A doença de Stargardt, também conhecida como Stargardt 1 (STGD1), é uma forma autossômica recessiva de distrofia retiniana que geralmente é caracterizada por uma perda progressiva da visão central associada a manchas irregulares de fundo amarelo-branco maculares e perimaculares e uma chamada lesão macular central atrófica de bronze batido.
Introdução
O que você precisa saber de cara
A doença de Stargardt, também conhecida como Stargardt 1 (STGD1), é uma forma autossômica recessiva de distrofia retiniana que geralmente é caracterizada por uma perda progressiva da visão central associada a manchas irregulares de fundo amarelo-branco maculares e perimaculares e uma chamada lesão macular central atrófica de bronze batido.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 14 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 50 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
9 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine (N-Ret-PE) from the lumen to the cytoplasmic leaflet of photoreceptor outer segment disk membranes, where 11-cis-retinylidene-phosphatidylethanolamine is then isomerized to its all-trans isomer and reduced by RDH8 to produce all-trans-retinol. This transport activity ensures that all-trans-retinal generated fr
MembraneEndoplasmic reticulumCytoplasmic vesicleCell projection, cilium, photoreceptor outer segment
Stargardt disease 1
An autosomal recessive form of Stargardt disease, a retinal degenerative disease characterized by macular dystrophy, progressive bilateral atrophy of the foveal retinal pigment epithelium, and accumulation of fluorescent flecks around the macula and/or in the central and near-peripheral areas of the retina. STGD1 patients typically lose central vision in their first or second decade of life.
Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore (PubMed:16116091). Essential for the production of 11-cis retinal for both rod and cone photoreceptors (PubMed:17848510). Also capable of catalyzing the isomerizati
CytoplasmCell membraneMicrosome membrane
Leber congenital amaurosis 2
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Involved in the maintenance of both rod and cone photoreceptor cells (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as photoreceptor-specific localization of proximal CC proteins at the distal CC (By similarity). Maintenance of protein localization at the photoreceptor-specific distal CC is essential for normal microtubule stability and to prevent photoreceptor degeneration (By similarity)
Cytoplasm, cytoskeleton, cilium axonemeCytoplasm, cytoskeleton, cilium basal bodyCytoplasm, cytoskeletonCell projection, cilium, photoreceptor outer segment
Leber congenital amaurosis 3
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Involved in intraflagellar protein (IFT) transport in photoreceptor cilia. Plays a role in the ciliary transport of photoreceptors outer segment proteins
Cytoplasm, cytoskeletonCytoplasm, cytoskeleton, cilium axonemeCytoplasm, cytoskeleton, cilium basal bodyCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCell projection, cilium
Leber congenital amaurosis 5
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters (PubMed:9920938). Retinyl esters are storage forms of vitamin A (Probable). LRAT plays a critical role in vision (Probable). It provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into 11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol is oxidized and conver
Endoplasmic reticulum membraneRough endoplasmic reticulumEndosome, multivesicular bodyCytoplasm, perinuclear region
Leber congenital amaurosis 14
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
May play a role in cell differentiation, proliferation and apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner (P
Apical cell membraneCell projection, microvillus membraneCell projection, cilium, photoreceptor outer segmentEndoplasmic reticulumEndoplasmic reticulum-Golgi intermediate compartment
Retinitis pigmentosa 41
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Pore-forming subunit of the cone cyclic nucleotide-gated channel. Mediates cone photoresponses at bright light converting transient changes in intracellular cGMP levels into electrical signals. In the dark, cGMP levels are high and keep the channel open enabling a steady inward current carried by Na(+) and Ca(2+) ions that leads to membrane depolarization and neurotransmitter release from synaptic terminals. Upon photon absorption cGMP levels decline leading to channel closure and membrane hyper
Cell membrane
Stargardt disease 1
An autosomal recessive form of Stargardt disease, a retinal degenerative disease characterized by macular dystrophy, progressive bilateral atrophy of the foveal retinal pigment epithelium, and accumulation of fluorescent flecks around the macula and/or in the central and near-peripheral areas of the retina. STGD1 patients typically lose central vision in their first or second decade of life.
Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity). Required for the maintenance of retinal outer nuclear layer thickness (By similarity). Required for the correct development and organization of the photoreceptor inner segment (By similarity)
MembraneCell projection, cilium, photoreceptor outer segmentPhotoreceptor inner segment
Retinitis pigmentosa 7
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that catalyzes the synthesis of very long chain saturated (VLC-SFA) and polyunsaturated (PUFA) fatty acids that are involved in multiple biological processes as precursors of membrane lipids and
Endoplasmic reticulum membrane
Stargardt disease 3
A form of Stargardt disease, a common hereditary macular degeneration characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD3 is an autosomal dominant form with onset most commonly in the second decade of life.
Medicamentos e terapias
Mecanismo: Retinoid isomerohydrolase inhibitor
Mecanismo: Mitochondrial complex I (NADH dehydrogenase) inhibitor
Variantes genéticas (ClinVar)
2,358 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 497 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
7 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença de Stargardt
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 820
Automated Quantification of Decreased Fundus Autofluorescence in Stargardt Disease Using Starguage: Validation against Manual Grading Standards.
To evaluate the repeatability and reproducibility of Starguage, a novel automated method, compared with manual segmentation for measuring decreased autofluorescence (DAF) and definitely decreased autofluorescence (DDAF) in fundus autofluorescence (FAF) images of patients with Stargardt disease. A cross-sectional reproducibility and agreement study. A total of 316 eyes from 158 genetically confirmed Stargardt patients were analyzed. For intragrader repeatability, 114 FAF images were reassessed in a masked, repeated-measures design. Decreased autofluorescence and DDAF lesion areas were independently quantified by five certified graders using either manual delineation with Heidelberg RegionFinder or a threshold-based automated algorithm, with automated quantification and cross-method agreement analyses restricted to a prespecified central 6-mm fovea-centered region. Agreement and repeatability were assessed using intraclass correlation coefficients (ICCs), standard error of measurement (SEM), minimal detectable change (MDC), Lin's concordance correlation coefficient (CCC), Bland-Altman plots, and Passing-Bablok regression. Both raw and square-root-transformed lesion areas were evaluated. Repeatability (intragrader ICC, SEM, and MDC), reproducibility (intergrader ICC), and agreement (CCC and bias in regression analysis) between and within manual and automated methods. The automated method achieved excellent intragrader repeatability for both DAF and DDAF (ICCs ≥0.988, SEM ≤0.71 mm2, MDC ≤1.98 mm2), with minimal operator influence. Manual measurements showed variable repeatability (DAF ICCs 0.909-0.974; DDAF ICCs as low as 0.837), with square-root transformation reducing SEM and MDC. Intergrader reproducibility was highest for automated methods (ICC = 0.988-0.992), whereas manual methods ranged from 0.764-0.939 (raw) and 0.867-0.922 (transformed). Cross-method agreement was strong (CCC = 0.91-0.96), though minor proportional and constant bias was observed in raw DAF data. The automated approach provides near-perfect repeatability and high agreement with manual grading, offering a scalable, objective alternative for quantifying hypo-auto-fluorescent lesions in Stargardt disease. Manual methods are generally reliable but more variable, especially for DDAF, and benefit from square-root transformation. Findings reflect a pediatric/adolescent single-trial predominantly Asian cohort. The authors have no proprietary or commercial interest in any materials discussed in this article.
Precise CRISPR/Cas9 and Cas12 Correction Using Lipoplexes in Retinal Models Derived from Patients with Inherited Retinal Dystrophies.
Gene editing, particularly CRISPR/Cas technology, represents a promising approach for the treatment of rare genetic diseases, including inherited retinal dystrophies, for which effective therapies are largely unavailable. Despite extensive research investigating gene editing across a wide range of cell types, transient delivery of CRISPR/Cas components and efficient homology-directed repair (HDR) in differentiated cells remain challenging. In this study, we employed hiPSCs derived from patients with Stargardt disease or Best disease, carrying pathogenic variants in ABCA4 or BEST1, respectively, to explore gene editing in human models. CRISPR/Cas9 and Cas12 nucleases were delivered into hiPS-derived retinal pigment epithelium (RPE) and retinal organoids using lipoplexes and compared with electroporation. We evaluated transfection efficiency, sgRNA-mediated DNA cleavage, and HDR-based correction. Precise repair of the pathogenic BEST1 variant was successfully achieved in hiPS-derived RPE cells using both nucleases, with Cas12 yielding the highest efficiency, exceeding 10% of HDR correction. Edited RPE cells preserved normal morphology and expressed specific maturity markers. In contrast, retinal organoids exhibited moderate transfection efficiency but showed no detectable CRISPR/Cas-induced DNA cleavage, highlighting the need for further optimization of gene editing in more complex cellular tissues. This study demonstrates, for the first time, precise correction of a single-nucleotide mutation in patient-derived RPE using CRISPR/Cas9 and Cas12 delivered using lipoplexes. These findings underscore the therapeutic potential of CRISPR/Cas-based strategies for inherited retinal dystrophies and provide a proof of concept for future clinical approximations.
Longitudinal Changes of Fundus Autofluorescence and Correlation With Visual Acuity in ABCA4-Associated Stargardt Disease.
To assess cross-sectional and longitudinal relationships between fundus autofluorescence (FAF) and visual acuity (VA) in ABCA4-associated Stargardt disease (STGD1). Secondary analysis used data from 301 STGD1 participants (566 study eyes) enrolled in the international ProgStar studies. The study reading center graded the FAF images qualitatively and quantitatively, including areas of atrophy reflected as definitely decreased autofluorescence (DDAF) and questionably decreased autofluorescence (QDAF). Linear models estimated cross-sectional and longitudinal associations between the growth of DDAF area and total DAF area (i.e., sum of DDAF and QDAF areas) and change in VA. At the first visit, the median age was 30 years (range, 7-69); 55% were women. Mean ± SD VA was 0.73 ± 0.36 logMAR; mean total DAF area was 3.4 ± 3.8 mm2; and 42% of eyes had no DDAF. Cross-sectionally, increasing age and duration of symptoms, younger age of symptom onset, and larger QDAF area were significantly associated with worse VA (P < 0.05). Mean follow-up was 3.3 years (range, 0.5-10.3). There was no statistically significant relationship between growth of total DAF or DDAF areas and change in VA (P > 0.05). Characteristics other than DAF area (e.g., flecks presence) may influence VA. Some patients remained DDAF free longitudinally and thus would be excluded in STGD1 trials that use DDAF as the primary endpoint. The cross-sectional relationship between DAF and VA confirmed the association of VA with retinal pigment epithelium (RPE) structure. The lack of a significant association between growth in DAF areas with change in VA over follow-up points to challenges resulting from slow progression and large VA variability. Exploring outcome measures from other modalities is warranted for designing STGD1 trials.
Advanced therapeutic approaches for inherited retinal diseases: an umbrella review.
To evaluate the efficacy and safety of advanced therapeutic approaches for inherited retinal disease (IRD) using evidence from systematic reviews and meta-analyses. Umbrella review. We searched for Epistemonikos, PubMed, Scopus, PsycInfo, Google Scholar, Joanna Briggs Institute Evidence Synthesis, the Cochrane Database of Systematic Reviews and Database of Abstracts of Reviews of Effects from inception to November 2024. This included English-language systematic review and meta-analysis assessing advanced therapies in patients with IRD (including congenital retinal dystrophies, retinal dystrophies, retinitis pigmentosa (RP), Stargardt disease, X linked RP, achromatopsia, cone-rod dystrophy, choroideraemia and X linked retinoschisis). Reviews that did not meet the methodological quality threshold were excluded. Two reviewers independently screened and extracted the data, with disagreements resolved by consensus. Findings were synthesised narratively due to the substantial overlap of primary studies. Six systematic reviews and meta-analyses published from 2020 onwards were included, comprising between 6 and 21 primary studies per review. The therapies evaluated included gene therapy, cell-based therapy and stem cell-based interventions. Reported effect estimates showed modest to clinically meaningful improvements in best-corrected visual acuity and retinal structural outcomes in selected IRD subtypes, although effect sizes varied widely across interventions and conditions. The GRADE certainty of evidence ranged from moderate to low, reflecting bias, imprecision and heterogeneity risks. Substantial overlap of primary studies was observed (corrected covered area = 28.9%), precluding quantitative pooling across reviews. The findings suggest notable improvements in visual acuity, retinal structure and other critical outcomes, with therapies such as cell therapy, gene therapy and stem cell therapy showing promising results in enhancing treatment efficacy. Although there are examples of successes with supportive evidence, the overall evidence is not sufficiently strong to make general recommendations, as studies still need to be evaluated on a case-by-case basis. Further high-quality, large-scale randomised controlled trials are needed to better confirm their efficacy and safety.
Wnt signaling dysregulation drives Stargardt disease pathogenesis.
Stargardt disease, the most common inherited juvenile macular degeneration, is primarily caused by ABCA4 mutations, yet the cellular origin of pathology remains debated. Here, we identify a critical role for Wnt signaling dysregulation, specifically non-canonical Wnt pathway suppression, in driving retinal pigment epithelium (RPE) dysfunction as a central mechanism of disease. Using patient-derived iPSC-RPE harboring distinct ABCA4 mutations, we demonstrate that ABCA4 loss disrupts RPE hexagonal morphology, reduces pigmentation, and aberrantly activates neural retinal differentiation. Mechanistically, transcriptomic and functional analyses revealed pronounced downregulation of non-canonical Wnt signaling (e.g., Wnt5a), which correlated with epithelial disorganization and ectopic neurogenesis. Notably, while canonical Wnt activation failed to rescue these pathological defects, pharmacological stimulation of non-canonical Wnt signaling restored RPE integrity and suppressed neural transdifferentiation in a mutation-dependent manner. These findings not only redefine ABCA4 as a regulator of epithelial Wnt crosstalk but also unveil a divergence in Wnt pathway vulnerability among patients. Our work positions non-canonical Wnt agonism as a therapeutic strategy for Stargardt and underscores the broader imperative for mutation-tailored interventions in inherited retinal diseases. By revealing phenotypic convergence on Wnt signaling dysregulation in ABCA4-deficient RPE, this study provides a framework for understanding epithelial-pathway-driven degeneration, with implications for AMD, fibrosis, and developmental disorders characterized by polarity loss.
Publicações recentes
Uncovering mitochondrial defects in photoreceptors opens therapeutic opportunities for Stargardt disease.
Integrated transcriptomic and metabolomic analyses reveal distinct energy metabolic signatures and functional properties of RPE cells under two culture conditions.
Crop-OCT: a Fully Integrated Imageomics Pipeline to Identify Regional and Focal Retinopathy in Murine Models.
Retinal gene therapies for inherited ocular diseases: Translational delivery strategies from bench to bedside.
Nutritional supplements: current evidence for retinitis pigmentosa and Stargardt disease.
📚 EuropePMC578 artigos no totalmostrando 197
Crop-OCT: a Fully Integrated Imageomics Pipeline to Identify Regional and Focal Retinopathy in Murine Models.
bioRxiv : the preprint server for biologyRetinal gene therapies for inherited ocular diseases: Translational delivery strategies from bench to bedside.
Journal of controlled release : official journal of the Controlled Release SocietyNutritional supplements: current evidence for retinitis pigmentosa and Stargardt disease.
Current opinion in ophthalmologyAutomated Quantification of Decreased Fundus Autofluorescence in Stargardt Disease Using Starguage: Validation against Manual Grading Standards.
Ophthalmology sciencePhenotype-integrated reinterpretation of laboratory-reported ABCA4 gene sequencing results improves molecular diagnostic rate in Black/non-White patients and those with late-onset Stargardt macular dystrophy.
Ophthalmic geneticsThe Liver-Eye Axis of Dietary Vitamin A Homeostasis: A Review of Mechanisms, Receptors, and Visual Outcomes.
NutrientsPrecise CRISPR/Cas9 and Cas12 Correction Using Lipoplexes in Retinal Models Derived from Patients with Inherited Retinal Dystrophies.
CellsRetinal vasoproliferative tumors in pediatric retinal dystrophies.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusLongitudinal Changes of Fundus Autofluorescence and Correlation With Visual Acuity in ABCA4-Associated Stargardt Disease.
Investigative ophthalmology & visual scienceAdvanced therapeutic approaches for inherited retinal diseases: an umbrella review.
BMJ openAcid sphingomyelinase inhibition restores RPE homeostasis and photoreceptor function in preclinical Stargardt macular degeneration models.
bioRxiv : the preprint server for biologyMental health outcomes in patients with inherited retinal diseases: a systematic review and meta-analysis.
International journal of retina and vitreousWnt signaling dysregulation drives Stargardt disease pathogenesis.
Science China. Life sciencesGenetic Correlates of Phenotypic Variability in c.5882G>A p.(Gly1961Glu)-Associated Stargardt Disease.
Investigative ophthalmology & visual scienceFerroptosis in retinal pigment epithelial cells: Current status and future developments.
Indian journal of ophthalmologyMore insights from Abca4-/- mouse models of recessive Stargardt disease.
The Journal of biological chemistryMesopic microperimetry in Stargardt disease: Application and reliability.
Acta ophthalmologica[Clinical and genetic aspects of inherited retinal dystrophies : Phenotypic and molecular characterization of 1000 IRD patients in a German tertiary referral center].
Die OphthalmologieA Comparison of Randomizing Either One Eye or Both Eyes in Clinical Trials for Stargardt Disease Type 1.
Ophthalmology scienceABCA4-associated retinopathy complicated by didanosine-associated retinal toxicity.
American journal of ophthalmology case reportsEffects of Gastric Acid Suppression, Cytochrome P4503A Inhibition and Induction, and Food on the Pharmacokinetics of Tinlarebant in Healthy Adults.
Clinical pharmacology in drug developmentUsing RNA-targeting CRISPR-Cas13 and engineered U1 systems to target ABCA4 splice variants in Stargardt disease.
Molecular therapy. Nucleic acidsStructure-Function Correlation Using a Targeted Image-Guided Microperimetry Approach for Retinal Atrophic Diseases: A Methods Study.
Translational vision science & technologyHomozygous initiation codon-altering complex variant causes rapid-onset chorioretinopathy phenotype in ABCA4 disease.
Documenta ophthalmologica. Advances in ophthalmologyA novel modifier gene therapy to treat Stargardt disease: Phase 1 GARDian1 Trial Insights.
Eye (London, England)Inherited retinal disorders in Scotland: A 5 year assessment.
Eye (London, England)Benchmarking AlphaMissense against ClinVar for Diagnostic Interpretation of Missense Variants in Inherited Retinal Diseases.
Ophthalmology scienceNovel developments in retinal regeneration: Advances and future outlooks in stem cell therapy.
World journal of stem cellsMechanisms and Functions of Chromophore Regeneration in the Classical Visual Cycle: Implications for Retinal Disease Pathogenesis and Therapy.
BiomoleculesAtypical Retinitis Pigmentosa With Macular Sparing in a Patient With Compound Heterozygous ABCA4 Variants: A Case Report and Diagnostic Challenge.
Clinical case reportsStem cell therapy for inherited retinal diseases: Trends and insights from 2000 to 2024.
Cell transplantationA self-supervised learning method for detection of retinitis pigmentosa and Stargardt disease.
Scientific reportsEvaluating the clinical utility of multimodal large language models in rare maculopathy.
Scientific reportsDiscrete Wavelet Transform Analysis of PERG Signal Energies for Differentiating Retinal Pathologies.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International ConferenceApplication of Machine Learning to Discriminate Photoreceptor Cell Species in Xenotransplanted Chimeric Retinas.
Clinical and translational sciencePostmortem Retinal Structural and Metabolic Analysis After Human Embryonic Stem Cell-derived Retinal Pigment Epithelium Transplantation in a Patient With Stargardt Disease.
Journal of vitreoretinal diseasesActivation of GSDME by all-trans-retinal increases sensitivity to photoreceptor ferroptosis.
International journal of biological sciencesLoss of retinal stem cell reserve and lipofuscin accumulation accelerates cone-rod degeneration and replicates Stargardt disease in abca4b null zebrafish.
Scientific reportsHyperreflective Choroidal Foci: A Comprehensive Review.
Journal of ophthalmic & vision researchIncidental Finding of Stargardt Disease in a Healthy Control.
JAMA ophthalmologyCOMPARING THE ABILITY OF GENETIC TESTING TO PROVIDE A DEFINITIVE DIAGNOSIS IN PATIENTS WITH PERIPHERAL AND MACULAR INHERITED RETINAL DISEASE.
Retina (Philadelphia, Pa.)Contribution of genetic test results to patient management in ophthalmology: results from a Turkish Stargardt disease cohort.
Turkish journal of medical sciencesLarge Choroidal Excavation in Stargardt Disease.
JAMA ophthalmologyDysregulated DNA Methylation in Abca4-/- Retinal Pigment Epithelium: Insights into Early Stage of Stargardt Disease.
International journal of molecular sciencesBisretinoids as a Source of Early Photoreceptor Pathology in Stargardt Disease.
Ophthalmic researchFactors impacting experience of genetic testing among adults with inherited retinal diseases.
Journal of genetic counselingFerrostatin-1, a ferroptosis inhibitor, mitigates all-trans-retinal-induced retinal pigment epithelium degeneration in mice.
Journal of translational medicine[Clinical and genetic analysis of a child with Stargardt disease type 1 caused by novel compound heterozygous variants of the ABCA4 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsEarly-Onset Stargardt Disease Caused by Homozygosity of a Complex ABCA4 Allele from Eastern Africa: Two Case Reports.
Case reports in ophthalmologyABCA4-mutant human retinal organoids sequencing reveals organoids application in inherited retinal diseases.
Experimental eye researchSingle-Cell Transcriptomics in Inherited Retinal Dystrophies: Current Findings and Emerging Perspectives.
GenesDecoding pediatric inherited retinal dystrophies: Bridging genetic complexity and clinical heterogeneity.
Progress in retinal and eye researchAlterations in the foveal avascular zone and surrounding capillary network as important indicators of visual prognosis for hereditary macular dystrophy.
Taiwan journal of ophthalmologyFACTORS INFLUENCING THE DELAYED DIAGNOSIS OF STARGARDT DISEASE AND IMPACT ON THERAPEUTIC OPPORTUNITIES.
Retina (Philadelphia, Pa.)Corrigendum to "Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework".
Human mutationStargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt Disease.
Translational vision science & technologyHyperreflective Outer Nuclear Layer as a Biomarker of Early Stargardt Disease. A Case Report.
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnostiSubtle retinal degeneration in pigmented Abca4-/-Rdh8-/- mice.
Experimental eye researchCortical response to transient and long-term visual field loss.
Cerebral cortex (New York, N.Y. : 1991)Impact of Dietary Antioxidant Supplements on Atrophic Lesion Progression in Stargardt Disease: A Retrospective Observational Study.
Journal of ophthalmologyRescue of the Stargardt Disease Phenotype in Abca4 Knockout Mice Through Dietary Modulation of the Vitamin A Receptor RBPR2.
FASEB bioAdvancesBidirectional Hypoxic Extracellular Vesicle Signaling Between Müller Glia and Retinal Pigment Epithelium Regulates Retinal Metabolism and Barrier Function.
BiologyInherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.
BMC medical genomicsLateral Geniculate Nucleus Volume Assessed by 7 Tesla MRI 3D MT-Weighted SILENT Protocol in Patients with STARGARDT Disease-Pilot Study.
Journal of clinical medicineRetinal Pigment Epithelium Transplantation in Retinal Disease: Clinical Trial Development, Challenges, and Future Directions.
BiomoleculesSafety and efficacy of MCO-010 optogenetic therapy in patients with Stargardt disease in USA (STARLIGHT): an open-label multi-center Ph2 trial.
EClinicalMedicineEvaluating the Progression of Retinal Sensitivity Loss in Geographic Atrophy Using Machine-Learning-Based Structure-Function Correlation (OMEGA 2).
Investigative ophthalmology & visual scienceVisual cycle and LC3-associated phagocytosis in retina: regulatory mechanisms and therapeutic potential.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieFlavoprotein Fluorescence Imaging in Stargardt Disease: Linking Metabolic Stress to Structural Damage.
Investigative ophthalmology & visual scienceRationally Designed, Short-Acting RPE65 Inhibitors for Visual Cycle-Associated Retinopathies.
Journal of medicinal chemistryInactivation of cellular retinol-binding protein 1 protects against bis-retinoid accumulation and light-induced retinal degeneration in mice.
The Journal of biological chemistryKidney-shaped maculopathy in Stargardt disease.
Journal francais d'ophtalmologieAdvances in Precision Therapeutics and Gene Therapy Applications for Retinal Diseases: Impact and Future Directions.
GenesStargardt's Disease: Molecular Pathogenesis and Current Therapeutic Landscape.
International journal of molecular sciencesAmbispective study on the phenotypic progression of patients with Stargardt disease associated with ABCA4 gene mutations.
Archivos de la Sociedad Espanola de OftalmologiaDiagnostic Accuracy of AI Models in Detecting Different Inherited Retinal Diseases: A Systematic Review and Meta-Analysis.
Translational vision science & technologyThe Visual Acuity Course in Stargardt Disease.
American journal of ophthalmologyFundus Autofluorescence in Inherited Retinal Disease: A Review.
CellsNanovesicular Drug Delivery Systems for Rare Ocular Diseases: Advances, Challenges, and Future Directions.
AAPS PharmSciTech[Inherited retinal disorders: Current therapeutic options and future perspectives].
Klinische Monatsblatter fur AugenheilkundeUncovering the Characteristics of Pupil Cycle Time (PCT) in Neuropathies and Retinopathies.
Vision (Basel, Switzerland)Advances in machine learning for ABCA4-related retinopathy: segmentation and phenotyping.
International ophthalmologyStargardt disease due to ABCA4 mutation in a young adult: Case report and current alternatives for optical and medical treatments.
Archivos de la Sociedad Espanola de OftalmologiaStructure-Function Correlation Using a Targeted Image- Guided Microperimetry Approach for Retinal Atrophic Diseases: A Methods Study.
medRxiv : the preprint server for health sciencesABCA4-associated disease in childhood and adolescence- a phenotype study.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie[Clinical manifestations and genetic variation analysis in six Chinese pedigrees affected with Stargardt disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsIdentification and functional characterization of ABCA4 gene variants in three patients with Stargardt disease or retinitis pigmentosa.
Frontiers in geneticsA deep learning model for diagnosis of inherited retinal diseases.
Scientific reportsStargardt Disease: Clinical Features and Genotypes in an Indian Cohort.
Clinical geneticsChoroidal Hyperreflective Foci Represent a Common Finding Across Different Types of Macular Atrophy.
Investigative ophthalmology & visual scienceDark Adaptometry as a Diagnostic Tool in Retinal Diseases: Mechanisms and Clinical Utility.
Journal of clinical medicinePathonign variants in recessive disorders: How extremely hypomorphic variants can be pathogenic and benign depending on the allele in trans.
Intractable & rare diseases researchMotion Processing in Visual Cortex of Maculopathy Patients.
The Journal of neuroscience : the official journal of the Society for NeuroscienceLongitudinal scRNA-seq of retinal organoids derived from Stargardt disease patient with ABCA4 mutation.
Scientific dataStem cell therapy as treatment for Stargardt disease.
Therapeutic advances in ophthalmologyPhotorefractive keratectomy in a patient with Stargardt disease: Case report.
SAGE open medical case reportsOCT Findings in a Patient with Mild ABCA4 Stargardt Disease.
Ophthalmology. RetinaRekindling Vision: Innovative Strategies for Treating Retinal Degeneration.
International journal of molecular sciencesMultimodal imaging in autosomal recessive Stargardt's disease.
BMJ case reportsEthnic disparities in inherited retinal degenerations.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieHigh Resolution Imaging and Fixation Analysis of Eccentric Preferred Retinal Loci in Macular Diseases.
Investigative ophthalmology & visual scienceProgression of Atrophy as a Function of ABCA4 Variants and Age of Onset in Stargardt Disease.
Investigative ophthalmology & visual scienceAdvances and therapeutic opportunities in visual cycle modulation.
Progress in retinal and eye researchGeneration of a compound heterozygous ABCA4 rat model with pathological features of STGD1.
Human molecular geneticsClinical and Genetic Characteristics of 18 Patients from Southeast China with ABCA4-Associated Stargardt Disease.
International journal of molecular sciencesSpontaneous release of an epiretinal membrane in an adult patient with Stargardt disease - A case report.
Retinal cases & brief reportsFounder Variants in the Mexican Population: A Systematic Review.
Archives of medical researchMultidimensional Functional Phenotyping Based on Photoreceptor-Directed Temporal Contrast Sensitivity Defects in Inherited Retinal Diseases.
Investigative ophthalmology & visual scienceDelivery of Human iPSC-Derived RPE Cells in Healthy Minipig Retina Results in Interaction Between Photoreceptors and Transplanted Cells.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models.
Science advances[Pharmacotherapy of ABCA4-associated Retinal Dystrophies].
Klinische Monatsblatter fur AugenheilkundeInherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study.
Ophthalmic geneticsHealth state utilities associated with X-linked retinitis pigmentosa (XLRP).
The European journal of health economics : HEPAC : health economics in prevention and careQuantifying the Progression of Stargardt Disease in Double-Null ABCA4 Carriers Using Fundus Autofluorescence Imaging.
Translational vision science & technologyRescue of the disease-associated phenotype in CRISPR-corrected hiPSCs as a therapeutic approach for inherited retinal dystrophies.
Molecular therapy. Nucleic acidsCarrier Frequency of Autosomal Recessive Diseases in a Population Attending a Human Fertility Institute in Colombia.
JBRA assisted reproductionRetinal Detachment Accompanied by a Macular Hole in a Patient With ABCA4 and BEST1 Genetic Mutations.
CureusDark choroid sign in Stargardt disease.
Eye (London, England)Retinal thickness and visual acuity in early-onset Stargardt disease follow a non-linear progression curve: implications for clinical trials.
Ophthalmic geneticsPediatric Eye Screening: Current Standards and Gaps in Care.
Ophthalmic surgery, lasers & imaging retinaIntersection of Stargardt Dystrophy and AIDS: A Case Report.
CureusUnravelling genotype-phenotype correlations in Stargardt disease using patient-derived retinal organoids.
Cell death & diseaseWDR19-associated retinopathy presenting with adult-onset Stargardt-like phenotype.
Ophthalmic geneticsImproving personalised genetic counselling for ABCA4 -associated retinopathy: Updated recurrence risk estimates.
Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.VProposing Zebrafish as a Model for Stargardt Disease.
Advances in experimental medicine and biologyFrequency and Pattern of Gene Therapy Clinical Trials for Inherited Retinal Diseases.
Advances in experimental medicine and biologyAssessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.
Advances in experimental medicine and biologyABCA4 c.5461-6T>C Causes Stargardt Disease Through Exon Skipping.
Advances in experimental medicine and biologyLooking outside the box with a pathology aware AI approach for analyzing OCT retinal images in Stargardt disease.
Scientific reportsSuperotemporal predisposition to traumatic subretinal fibrosis in Stargardt disease: A case report.
American journal of ophthalmology case reportsABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype.
Investigative ophthalmology & visual scienceClinical perspective on pluripotent stem cells derived cell therapies for the treatment of neurodegenerative diseases.
Advanced drug delivery reviewsRevealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.
Clinical geneticsAdvancing Insights into Pediatric Macular Diseases: A Comprehensive Review.
Journal of clinical medicineGenotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.
Scientific reportsPreclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease.
Communications medicineDifferential Diagnosis of Age-Related Macular Degeneration.
Klinische Monatsblatter fur AugenheilkundeModifiers and their impact on inherited retinal diseases: a review.
Ophthalmic geneticsHigh-efficiency base editing in the retina in primates and human tissues.
Nature medicineQuercetin Alleviates All-Trans-Retinal-Induced Photoreceptor Apoptosis and Retinal Degeneration by Inhibiting the ER Stress-Related PERK Signaling.
International journal of molecular sciencesRescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic ABCA4 Allele.
Genes12-year cumulative incidence rate of rare retinal diseases: a nationwide study in Korea.
Eye (London, England)Heart-retina time analysis using electrocardiogram-coupled time-resolved dynamic optical coherence tomography.
Scientific reportsMaculopathies: A Systematic Literature Review on Pathophysiology, Public Health, and Treatment.
CureusInterruption of the visual cycle in a novel animal model induces progressive vision loss resembling Stargardts Disease.
Scientific reportsCHOROIDAL HYPERREFLECTIVE FOCI AS BIOMARKERS OF SEVERITY IN STARGARDT DISEASE.
Retina (Philadelphia, Pa.)Inhibition of JNK signaling attenuates photoreceptor ferroptosis caused by all-trans-retinal.
Free radical biology & medicineEvaluation of mesenchymal stem cells as an in vitro model for inherited retinal diseases.
Frontiers in cell and developmental biologyAbca4, mutated in Stargardt disease, is required for structural integrity of cone outer segments.
Disease models & mechanismsCharacterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease.
medRxiv : the preprint server for health sciencesDistinguishing ABCA4 from PRPH2-related disease: qualitative analysis of examination and imaging features.
Ophthalmic geneticsIdentification of a novel mutation in the PROM1 gene associated with autosomal dominant Stargardt disease.
Asian journal of surgeryPRPH2-ASSOCIATED RETINAL DISEASES: A SYSTEMATIC REVIEW OF PHENOTYPIC FINDINGS.
American journal of ophthalmologyLipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in ABCA4.
Molecular therapy. Nucleic acidsA comparative study of choroidal structural features in eyes with central macular atrophy related to Stargardt disease and non-exudative age-related macular degeneration.
Indian journal of ophthalmologyStrabismus in an Adolescent With Stargardt Disease: An Atypical Presentation.
CureusAdaptive optics scanning laser ophthalmoscopy in a heterogenous cohort with Stargardt disease.
Scientific reportsCensoring the Floor Effect in Long-Term Stargardt Disease Microperimetry Data Produces a Faster Rate of Decline.
Ophthalmology scienceAn uncommon case of retinitis pigmentosa patients based on clinical and genetic study.
The Medical journal of MalaysiaEmerging Therapeutic Approaches and Genetic Insights in Stargardt Disease: A Comprehensive Review.
International journal of molecular sciencesProgression Rate of Macular Retinal Pigment Epithelium Atrophy in Geographic Atrophy and Selected Inherited Retinal Dystrophies. A Systematic Review and Meta-Analysis.
American journal of ophthalmologyLongitudinal imaging of 8-year progression in a teenager with Stargardt disease.
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)Presentation and Clinical Features of Stargardt Disease in a Series of Nigerian Patients.
Annals of African medicineStructural and functional characterization of the nucleotide-binding domains of ABCA4 and their role in Stargardt disease.
The Journal of biological chemistryAberrant lipid accumulation and retinal pigment epithelium dysfunction in PRCD-deficient mice.
Experimental eye researchThe Surviving, Not Thriving, Photoreceptors in Patients with ABCA4 Stargardt Disease.
Diagnostics (Basel, Switzerland)The ABCs of Stargardt disease: the latest advances in precision medicine.
Cell & bioscienceNovel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance.
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur AugenheilkundeSafety of intravitreally delivered AAV2 vector-mediated multi-characteristic opsin genetic construct in wild type beagle dogs.
The journal of gene medicineThe Progression of Stargardt Disease as Determined by Spectral-Domain Optical Coherence Tomography over a 24-Month Period (ProgStar Report No. 18).
Ophthalmic researchMultimodal in-vivo maps as a tool to characterize retinal structural biomarkers for progression in adult-onset Stargardt disease.
Frontiers in ophthalmologyClinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes.
Stem cell research & therapyRecent advancements and applications of ophthalmic gene therapy strategies: A breakthrough in ocular therapeutics.
Experimental eye researchGenetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
GenesNovel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy.
International journal of molecular sciencesGeneration and characterization of a Stargardt's disease-specific induced pluripotent stem cell line (LVPEIi008-A) with a homozygous nonsense mutation in exon 44 of ABCA4.
Stem cell researchImpaired cathepsin D in retinal pigment epithelium cells mediates Stargardt disease pathogenesis.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyTime-Resolved Dynamic Optical Coherence Tomography for Retinal Blood Flow Analysis.
Investigative ophthalmology & visual scienceClinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
JAMA network openAntisense Oligonucleotide-Based Rescue of Complex Intronic Splicing Defects in ABCA4.
Nucleic acid therapeuticsRetinoic acid related orphan receptor α is a genetic modifier that rescues retinal degeneration in a mouse model of Stargardt disease and Dry AMD.
Gene therapyNationwide Prevalence of Inherited Retinal Diseases in the Israeli Population.
JAMA ophthalmologyABCA4-related retinopathies in Lebanon.
HeliyonArtificial Intelligence (AI) for Early Diagnosis of Retinal Diseases.
Medicina (Kaunas, Lithuania)A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants.
International journal of molecular sciencesMetabolomics facilitates differential diagnosis in common inherited retinal degenerations by exploring their profiles of serum metabolites.
Nature communicationsGeneration of two induced pluripotent stem cell lines (LVPEIi007-B, LVPEIi008-B) from patients harboring homozygous mutation in ABCA4 (c.6088C>T) using non-integrative Sendai virus-based approach.
Stem cell researchPreclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease.
CellsRepresentation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
JAMA ophthalmologyNationwide epidemiologic survey on incidence of macular dystrophy in Japan.
Japanese journal of ophthalmologyLONGITUDINAL ADAPTIVE OPTICS SCANNING LASER OPHTHALMOSCOPY REVEALS REGIONAL VARIATION IN CONE AND ROD PHOTORECEPTOR LOSS IN STARGARDT DISEASE.
Retina (Philadelphia, Pa.)Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253+43G>A Underlying Stargardt Disease.
Nucleic acid therapeuticsIntravitreal Delivery of PEGylated-ECO Plasmid DNA Nanoparticles for Gene Therapy of Stargardt Disease.
Pharmaceutical researchTHE PERIPAPILLARY RETINA: A COMMON JUNCTURE IN STARGARDT DISEASE AND IDIOPATHIC INTRACRANIAL HYPERTENSION.
Retinal cases & brief reportsAutomated identification of fleck lesions in Stargardt disease using deep learning enhances lesion detection sensitivity and enables morphometric analysis of flecks.
The British journal of ophthalmologyRecurrent and Concurrent Prediction of Longitudinal Progression of Stargardt Atrophy and Geographic Atrophy.
medRxiv : the preprint server for health sciencesABCA4 variant screening in a Turkish cohort with Stargardt disease.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Automated Quantification of Decreased Fundus Autofluorescence in Stargardt Disease Using Starguage: Validation against Manual Grading Standards.
- Precise CRISPR/Cas9 and Cas12 Correction Using Lipoplexes in Retinal Models Derived from Patients with Inherited Retinal Dystrophies.
- Longitudinal Changes of Fundus Autofluorescence and Correlation With Visual Acuity in ABCA4-Associated Stargardt Disease.
- Advanced therapeutic approaches for inherited retinal diseases: an umbrella review.
- Wnt signaling dysregulation drives Stargardt disease pathogenesis.
- Uncovering mitochondrial defects in photoreceptors opens therapeutic opportunities for Stargardt disease.
- Integrated transcriptomic and metabolomic analyses reveal distinct energy metabolic signatures and functional properties of RPE cells under two culture conditions.
- Crop-OCT: a Fully Integrated Imageomics Pipeline to Identify Regional and Focal Retinopathy in Murine Models.
- Retinal gene therapies for inherited ocular diseases: Translational delivery strategies from bench to bedside.
- Nutritional supplements: current evidence for retinitis pigmentosa and Stargardt disease.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:827(Orphanet)
- MONDO:0019353(MONDO)
- GARD:181(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
