Acromatopsia (ACHM) é uma doença rara da retina, de herança autossômica recessiva, caracterizada pela incapacidade de enxergar cores, movimentos involuntários dos olhos (nistagmo), sensibilidade intensa à luz (fotofobia) e visão muito baixa. Essas características surgem devido à ausência ou ao mau funcionamento das células cones na retina.
Introdução
O que você precisa saber de cara
Acromatopsia (ACHM) é uma doença rara da retina, de herança autossômica recessiva, caracterizada pela incapacidade de enxergar cores, movimentos involuntários dos olhos (nistagmo), sensibilidade intensa à luz (fotofobia) e visão muito baixa. Essas características surgem devido à ausência ou ao mau funcionamento das células cones na retina.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 16 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 45 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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 recessive.
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase
Cell projection, cilium, photoreceptor outer segmentPhotoreceptor inner segment
Achromatopsia 4
An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus.
Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal
Cell membrane
Colorblindness, partial, deutan series
An X-linked color vision defect characterized by a dichromasy in which red and green are confused, without loss of luminance or shift or shortening of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia.
Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal
Membrane
Colorblindness, partial, protan series
An X-linked color vision defect characterized by a dichromasy in which red and green are confused, with loss of luminance and shift of brightness and hue curves toward the short wave end of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia.
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
Achromatopsia 2
An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus.
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.
Acts as a guanine-nucleotide releasing factor (GEF) for RAB8A and RAB37 by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP (PubMed:20631154). GEF activity towards RAB8A may facilitate ciliary trafficking by modulating ciliary intracellular localization of RAB8A (PubMed:20631154). GEF activity towards RAB37 maintains autophagic homeostasis and retinal function (By similarity). Involved in photoreceptor integrity (By similarity). May control cilia formation by regulating ac
Cytoplasm, cytoskeleton, flagellum axonemeGolgi apparatusCell projection, ciliumCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, cilium basal bodyCytoplasm, cytoskeleton, cilium axoneme
Retinitis pigmentosa 3
An X-linked 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. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe retinitis pigmentosa. Heterozygous women can manifest a form of choroidoretinal degeneration which is distinguished from other types by the absence of visual defects in the presence of a brilliant, scintillating, golden-hued, patchy appearance most striking around the macula, called a tapetal-like retinal reflex.
Precursor of the transcription factor form (Processed cyclic AMP-dependent transcription factor ATF-6 alpha), which is embedded in the endoplasmic reticulum membrane (PubMed:10564271, PubMed:11158310, PubMed:11779464). Endoplasmic reticulum stress promotes processing of this form, releasing the transcription factor form that translocates into the nucleus, where it activates transcription of genes involved in the unfolded protein response (UPR) (PubMed:10564271, PubMed:11158310, PubMed:11779464)
Endoplasmic reticulum membraneGolgi apparatus membraneNucleus
Achromatopsia 7
A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus.
As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP
Cell membrane
Cone dystrophy 4
An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.
Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones
Achromatopsia 6
An autosomal recessive form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by colorblindness, low visual acuity, photophobia and nystagmus. ACHM6 patients have incomplete loss of color vision, and non-progressive reduced visual acuity.
Variantes genéticas (ClinVar)
605 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 907 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
12 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 — Acromatopsia
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
13 ensaios clínicos encontrados, 5 ativos.
Publicações mais relevantes
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.
Crop-OCT: a Fully Integrated Imageomics Pipeline to Identify Regional and Focal Retinopathy in Murine Models.
Imageomics uses machine learning to accelerate our understanding of biological traits and human disease processes. Some of the earliest imageomics applications used deep learning to assess human diseases. For example, retinal fundus images were analyzed to diagnose diabetic retinopathy. The imaging modality optical coherence tomography (OCT) is widely used to diagnose and monitor the progression of retinopathy in patients and preclinical models. The standardized instrumentation and image format of OCT lends itself to imageomics, but generalizable, automated pipelines for segmentation and quantitation of large numbers of OCT images are still in early development. Here, we present the automated, end-to-end pipeline Crop-OCT that extracts features from thousands of OCT images, while preserving their location within the eye. We used the Crop-OCT pipeline on a diverse dataset, including 13 genetic models of retinopathy, with more than 20,000 OCT images, which allowed us to analyze nearly 6 million measured features. The pipeline was generalized on an independent dataset that was analyzed in a blinded manner. The pipeline enabled us to monitor ocular changes associated with aging and progression of diseases, such as retinitis pigmentosa, Leber congenital amaurosis, achromatopsia, Stargardt disease, diabetic retinopathy, and age-related macular degeneration. We also characterized heterogeneity across animals and identified regional and focal lesions. Our pipeline will unify feature extraction for preclinical models of retinal disease and serve as a foundation for future multimodal data integration for artificial intelligence applications based on imageomics.
Deletion involving exon 18 of RPGRIP1 is a major cause of achromatopsia.
To evaluate the prevalence of achromatopsia (ACHM) associated with variants of RPGRIP1 , especially c.2710+374_2895+78del ( RPGRIP1 -ex18-DEL), and to confirm that these phenotypes were consistent with ACHM in Japanese patients. This retrospective observational study involved a review of medical records from 52 patients across 47 Japanese families; all clinically diagnosed with ACHM. Causative variants for ACHM were identified in 39 families via whole-exome sequencing, whole-genome sequencing, or polymerase chain reaction: PDE6C (13 families), RPGRIP1 -ex18-DEL (11 families), CNGA3 (11 families), CNGB3 (2 families), and GNAT2 (2 families). Patients with ACHM associated with RPGRIP1 -ex18-DEL variants did not exhibit significant difference in phenotype, including spherical equivalent refractive error, best-corrected visual acuity (BCVA), fundus appearance, ellipsoid zone grading of optical coherence tomography, and fundus autofluorescence pattern, compared to those with variants in CNGA3 or PDE6C at baseline (all, P > 0.05). For five ACHM patients with RPGRIP1 -ex18-DEL variants, no change in BCVA or ellipsoid zone grading was noted over a follow-up period of >10 years (all, P > 0.05). Variants in RPGRIP1 -ex18-DEL are unique hotspots with a high prevalence among Japanese patients with ACHM. Clinical findings in these patients are consistent with those in patients with ACHM from other causative genes.
CNGA3-Related Achromatopsia: A 10-Year Follow-Up.
Purpose: To describe long-term structural retinal changes in CNGA3-related achromatopsia using spectral-domain optical coherence tomography (SD-OCT) over a 10-year follow-up period. Methods: A single case was reviewed. Results: A 16-year-old girl with genetically confirmed CNGA3 mutations underwent annual SD-OCT imaging with concurrent assessment of best-corrected visual acuity (BCVA). Over the 10-year follow-up, BCVA remained stable; however, progressive foveal structural deterioration was observed. These included early external limiting membrane (ELM) hyperreflectivity and ellipsoid zone (EZ) disruption, followed by the development and enlargement of optically empty spaces, choroidal hypertransmission defects, and increasing hyperreflective foci. These findings were consistent with progression through a previously proposed OCT-based staging system for achromatopsia. Conclusions: This case demonstrates that CNGA3-related achromatopsia can exhibit clear structural progression on SD-OCT despite stable visual acuity, challenging the traditional view of the disease as stationary. SD-OCT is essential for detecting subtle but progressive foveal degeneration, and hyperreflective foci may represent an early marker of photoreceptor or retinal pigment epithelium compromise. These findings support further refinement and validation of OCT-based staging systems in CNGA3-related achromatopsia.
Evaluation of Structural and Functional Retinal Changes in the Achromatopsia Spectrum with Multimodal Imaging.
Achromatopsia (ACHM) is a rare hereditary retinal disorder characterized by low vision, photophobia, and nystagmus. Due to its rarity, the relevant literature is limited. This study aimed to evaluate the structural and functional retinal changes observed in the ACHM spectrum using multimodal imaging. In this prospective cross-sectional study, 62 eyes of 31 patients within the ACHM spectrum who applied to the Low Vision Rehabilitation Unit of Ankara University Faculty of Medicine were evaluated. Assessments included macular pigment optical density (MPOD), microperimetry, contrast sensitivity (CS), fundus autofluorescence (FAF), and optical coherence tomography (OCT). Eyes were classified into five stages based on photoreceptor layer damage. The mean best-corrected visual acuity (BCVA) was 0.85 ± 0.18 logMAR. Fundus examination showed normal findings in 42%, irregular retinal pigment epithelium (RPE) in 48%, and atrophic RPE in 10%. Mean MPOD was 1.32 ± 2.27 dB, retinal sensitivity 20.85 ± 4.61 dB, and central macular thickness (CMT) 124.88 ± 59.15 µm. Fixation was extrafoveal in 92% and unstable in 83%. Photoreceptor damage was present in 72% of eyes: stage 1 (28%), stage 2 (13%), stage 3 (14%), stage 4 (19%), and stage 5 (26%). The ellipsoid zone was absent in 59%, foveal hypoplasia in 52%, and hypoautofluorescence in 57%. Significant correlations were observed between ellipsoid zone integrity and age, CMT, and FAF pattern (p = 0.044, p = 0.005, p < 0.001). This study highlights reduced MPOD, photoreceptor damage (72%), ellipsoid zone loss (59%), and foveal hypoplasia (52%) within the ACHM spectrum. The findings of this study may contribute to the literature on structural and functional retinal changes observed in cases within the ACHM spectrum and may be useful in the design of future clinical studies.
Publicações recentes
Epidemiology of Inherited Retinal Diseases in the United States: IRIS(®) Registry (Intelligent Research in Sight) Analysis.
Achromatopsia and infantile nystagmus syndrome (INS): Outcome after eye muscle surgery.
Crop-OCT: a Fully Integrated Imageomics Pipeline to Identify Regional and Focal Retinopathy in Murine Models.
Genetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.
Advanced therapeutic approaches for inherited retinal diseases: an umbrella review.
📚 EuropePMC370 artigos no totalmostrando 195
Crop-OCT: a Fully Integrated Imageomics Pipeline to Identify Regional and Focal Retinopathy in Murine Models.
bioRxiv : the preprint server for biologyGenetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.
Molecular visionAdvanced therapeutic approaches for inherited retinal diseases: an umbrella review.
BMJ openDeletion involving exon 18 of RPGRIP1 is a major cause of achromatopsia.
Retina (Philadelphia, Pa.)CNGA3-Related Achromatopsia: A 10-Year Follow-Up.
Journal of vitreoretinal diseasesMultimodal imaging of congenital achromatopsia associated with dome-shaped macula.
Journal francais d'ophtalmologieEvaluation of Structural and Functional Retinal Changes in the Achromatopsia Spectrum with Multimodal Imaging.
Current eye researchEarly Onset Inherited Retinal Diseases: Characterizing Clinical Manifestations and Common Involved Genes.
Retina (Philadelphia, Pa.)Discovery of rare and novel variants in inherited retinal disorders: Exome sequencing analysis of six Iranian families.
Journal of investigative medicine : the official publication of the American Federation for Clinical ResearchMeasuring Rod- and Cone-Photoreceptor-Specific Vision in Inherited Retinal Diseases Using a Commercial Perimeter.
Investigative ophthalmology & visual scienceVisual and Cognitive Disorders Associated With Isolated Lingual Gyrus Infarctions.
The Journal of neuropsychiatry and clinical neurosciencesOne down but many more to go: the state of gene therapy for inherited retinal disease.
Regenerative medicineSingle-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 researchClinical Research for Inherited Retinal Disease Related Pediatric Blindness: A Preliminary Descriptive Analysis Based on ClinicalTrials.gov.
Journal of multidisciplinary healthcareConcurrent inheritance of achromatopsia and MMAT syndrome in a pedigree: Genetic and clinical insights.
European journal of medical geneticsIdentification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing.
Molecular genetics & genomic medicineSelective Impairment of Rod-Driven Vision in Vitamin A Deficiency: Insights From Examining the Effect of Desensitizing Backgrounds.
Investigative ophthalmology & visual scienceNatural course of refractive errors in early onset inherited retinal diseases.
Eye (London, England)Exploring touch-colour associations in achromatopsia: A case study.
Cortex; a journal devoted to the study of the nervous system and behaviorWhole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes.
PloS oneBlue Cone Monochromatism.
Advances in experimental medicine and biologyTrends and Disparities in the Incidence and Prevalence of Inherited Retinal Diseases in the United States.
American journal of ophthalmologyExpanding the genetic spectrum of achromatopsia: novel CNGA3 and CNGB3 variants.
International ophthalmologyPathogenic Deep Intronic Variant in CNGB3 Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia.
Case reports in geneticsStructure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination.
Orphanet journal of rare diseasesDiscrepancies Between Autofluorescence Imaging Modalities in CNGB3-Associated Achromatopsia and Correlation With Ellipsoid Zone Continuity.
Translational vision science & technologyTransient vision loss and achromatopsia associated with use of minoxidil.
BMJ case reportsComprehensive functional splicing analysis of non-canonical CNGB3 variants using in vitro minigene splice assays.
The Journal of pathologyLongitudinal Imaging of the Parafoveal Cone Mosaic in Congenital Achromatopsia.
Ophthalmology scienceClinical and genetic features of CNGA3 achromatopsia in preschool children: novel insights into retinal architecture and therapeutic window for clinical trials.
Frontiers in medicineClinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.
Investigative ophthalmology & visual science[Genetic defects in Braunvieh cattle of Switzerland - an overview].
Schweizer Archiv fur TierheilkundeDysregulation of Retinal and Photoreceptor Structural Integrity Genes in ATF6-/- Retinal Organoids.
Advances in experimental medicine and biologyFrequency and Pattern of Gene Therapy Clinical Trials for Inherited Retinal Diseases.
Advances in experimental medicine and biologyVisual Tract Integrity Before and After Gene Therapy in Congenital Achromatopsia.
Translational vision science & technologyA deafness-blindness syndrome results from ATF6-based disruption of the unfolded protein response.
The Journal of clinical investigationNon-visual colour: A qualitative study of how the totally blind and an achromatope navigate colour in the sighted world.
Acta psychologicaCerebral achromatopsia secondary to cerebral amyloid angiopathy.
American journal of ophthalmology case reportsCase Report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family.
Frontiers in geneticsA homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD.
Genetics in medicine openOnset and Progression of Disease in Nonhuman Primates With PDE6C Cone Disorder.
Investigative ophthalmology & visual scienceInfantile Nystagmus Syndrome-Associated Inherited Retinal Diseases: Perspectives from Gene Therapy Clinical Trials.
Life (Basel, Switzerland)Mutations in unfolded protein response regulator ATF6 cause hearing and vision loss syndrome.
The Journal of clinical investigationCharacterization of anti-AAV2 neutralizing antibody levels in sheep prior to and following intravitreal AAV2.7m8 injection.
Gene therapyMicroperimetry Sensitivity Correlates to Structural Macular Changes in Adolescents with Achromatopsia Unlike Other Visual Function Tests.
Journal of clinical medicineIntact high-level visual functions in congenital rod-monochromacy.
Frontiers in neuroscienceLongitudinal Imaging of the Foveal Cone Mosaic in CNGA3-Associated Achromatopsia.
Investigative ophthalmology & visual scienceGENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.
Retina (Philadelphia, Pa.)Gene Therapy for Achromatopsia.
International journal of molecular sciences[Genetic analysis of a Chinese pedigree affected with Achromatopsia due to variants of CNGA3 gene and a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsPromotion of endoplasmic reticulum retrotranslocation by overexpression of E3 ubiquitin-protein ligase synoviolin 1 reduces endoplasmic reticulum stress and preserves cone photoreceptors in cyclic nucleotide-gated channel deficiency.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyFrequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Investigative ophthalmology & visual scienceTHE GENETIC BASIS OF CLINICALLY SUSPECTED ACHROMATOPSIA IN THE UNITED ARAB EMIRATES.
Retina (Philadelphia, Pa.)fMRI and gene therapy in adults with CNGB3 mutation.
Brain research bulletinClinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.
BMC medical genomicsMolecular Mechanisms Governing Sight Loss in Inherited Cone Disorders.
GenesVision-related quality of life, photoaversion, and optical rehabilitation in achromatopsia.
Optometry and vision science : official publication of the American Academy of OptometryS-cone contribution to oscillatory potentials in patients with blue cone monochromacy.
Documenta ophthalmologica. Advances in ophthalmologyChromatic Pupillometry as a Putative Screening Tool for Heritable Retinal Disease in Rhesus Macaques.
Translational vision science & technologyPre-Descemet's endothelial keratoplasty with glued intraocular lens implantation with pinhole pupilloplasty in a case of ocular comorbidity in achromatopsia.
Taiwan journal of ophthalmologyThe construction of genetics teaching resources related to colour blindness and their application in genetics teaching.
Yi chuan = HereditasLongitudinal Assessment of OCT-Based Measures of Foveal Cone Structure in Achromatopsia.
Investigative ophthalmology & visual scienceElectroretinography in congenital nystagmus patients with a normal fundus examination.
Japanese journal of ophthalmologyStatistical Evaluation of ERG Responses: A New Method to Validate Cycle-by-Cycle Recordings in Advanced Retinal Degenerations.
Investigative ophthalmology & visual scienceNovel ATF6 homozygous variant in a Chinese patient with achromatopsia.
Ophthalmic geneticsPhenotypic characteristics of Danish patients with achromatopsia.
Acta ophthalmologicaDyschromatopsia: a comprehensive analysis of mechanisms and cutting-edge treatments for color vision deficiency.
Frontiers in neurosciencePhenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Progress in retinal and eye researchUnusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder.
Documenta ophthalmologica. Advances in ophthalmologyPhenotype and genotype of 15 Saudi patients with achromatopsia: A case series.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyHIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis.
Retina (Philadelphia, Pa.)The endoplasmic reticulum: Homeostasis and crosstalk in retinal health and disease.
Progress in retinal and eye researchApplication of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Stem cell research & therapySafety and Efficacy of Adeno-Associated Viral Gene Therapy in Patients With Retinal Degeneration: A Systematic Review and Meta-Analysis.
Translational vision science & technologySstr2 Defines the Cone Differentiation-Competent Late-Stage Retinal Progenitor Cells in the Developing Mouse Retina.
Stem cells translational medicineColors in the mind's eye.
Cortex; a journal devoted to the study of the nervous system and behaviorAchromatopsia: Long term visual performance and clinical characteristics.
European journal of ophthalmologyKeratoconus, Dry Eye Syndrome, Overnight Orthokeratology, Achromatopsia and Uveitis in Children.
Klinische Monatsblatter fur AugenheilkundeAchromatopsia-Visual Cortex Stability and Plasticity in the Absence of Functional Cones.
Investigative ophthalmology & visual scienceAchromatopsia Showing Compound Heterozygous Mutations in ATF6 by Whole Exome Sequencing: A Rare Case Report.
Journal of pediatric ophthalmology and strabismusAnalysis of Suspected Achromatopsia by Multimodal Diagnostic Testing.
Klinische Monatsblatter fur AugenheilkundeEndoplasmic reticulum stress: molecular mechanism and therapeutic targets.
Signal transduction and targeted therapyVision restoration: Little red booster.
Current biology : CBFunctional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia.
Genetics in medicine : official journal of the American College of Medical GeneticsAn early onset cone dystrophy due to CEP290 mutation: a case report.
Documenta ophthalmologica. Advances in ophthalmology[Achromatopsia : Clinical aspects, diagnostics, genes, brain and quality of life].
Die OphthalmologieCoats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
OphthalmologyMorphological and Functional Aspects and Quality of Life in Patients with Achromatopsia.
Journal of personalized medicineInhibition of Ryanodine Receptor 1 Reduces Endoplasmic Reticulum (ER) Stress and Promotes ER Protein Degradation in Cyclic Nucleotide-Gated Channel Deficiency.
Advances in experimental medicine and biologyCompensatory Cone-Mediated Mechanisms in Inherited Retinal Degeneration Mouse Models: A Functional and Gene Expression Analysis.
Advances in experimental medicine and biologyAAV Serotypes and Their Suitability for Retinal Gene Therapy.
Advances in experimental medicine and biologySeeing color following gene augmentation therapy in achromatopsia.
Current biology : CBPrenylation is essential for the enrichment of cone phosphodiesterase-6 (PDE6) in outer segments and efficient cone phototransduction.
Human molecular geneticsMolecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.
GenesThe VA-CAL Test Quantifies Improvement of Visual Acuity in Achromatopsia by Means of Short-Wave Cutoff Filter Glasses in Daily Living Conditions.
Translational vision science & technologyIdiopathic hypertrophic pachymeningitis in a patient with a history of diffuse large B cell lymphoma.
BMJ case reportsCanine and Feline Models of Inherited Retinal Diseases.
Cold Spring Harbor perspectives in medicineFirst-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia.
American journal of ophthalmologyGenetic and Clinical Characterization of Danish Achromatopsia Patients.
GenesFoveal photoreceptor disruption in ocular diseases: An optical coherence tomography-based differential diagnosis.
Survey of ophthalmologyHigh-Efficiency CRISPR/Cas9-Mediated Correction of a Homozygous Mutation in Achromatopsia-Patient-Derived iPSCs.
International journal of molecular sciencesClinical and Genetic Features of Korean Patients with Achromatopsia.
GenesBiology, Pathobiology and Gene Therapy of CNG Channel-Related Retinopathies.
BiomedicinesSystematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing.
Scientific reportsMacular Pseudocoloboma in Achromatopsia.
OphthalmologyCentral retina plays a decisive role in the suppression of pupillary escape.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieColour perception deficits after posterior stroke: Not so rare after all?
Cortex; a journal devoted to the study of the nervous system and behaviorMitochondria and Endoplasmic Reticulum Stress in Retinal Organoids from Patients with Vision Loss.
The American journal of pathologyFrequency-dependent retinal responsiveness to sinusoidal electrical stimulation in achromatopsia.
Experimental eye researchStem cells for treating retinal degeneration.
Journal of perinatal medicineComparing Retinal Structure in Patients with Achromatopsia and Blue Cone Monochromacy Using OCT.
Ophthalmology scienceNew pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome.
BMC ophthalmologyA demonstration of cone function plasticity after gene therapy in achromatopsia.
Brain : a journal of neurologyVisual objects and their colors.
Handbook of clinical neurologyREPRODUCTIVE OPHTHALMOLOGY: The Intersection of Inherited Eye Diseases and Reproductive Technologies.
Retina (Philadelphia, Pa.)Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia.
Investigative ophthalmology & visual scienceIncreased H3K27 trimethylation contributes to cone survival in a mouse model of cone dystrophy.
Cellular and molecular life sciences : CMLSNewer therapeutic options for inherited retinal diseases: Gene and cell replacement therapy.
Indian journal of ophthalmologyAxial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.
Investigative ophthalmology & visual sciencePhenotypes and genotypes underlying paradoxical pupillary reaction in children.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusIdentification of the Transcriptional Biomarkers Panel Linked to Pathological Remodelling of the Eye Tissues in Various HD Mouse Models.
CellsQuantitative and qualitative characterization of retinal dystrophies in canine models of inherited retinal diseases using spectral domain optical coherence tomography (SD-OCT).
Experimental eye researchA Bioengineered In Vitro Model to Assess AAV-Based Gene Therapies for Cyclic GMP-Related Disorders.
International journal of molecular sciencesDelineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families.
GenesElectrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
GenesA new mutation in the PDE6C gene in achromatopsia.
European journal of ophthalmologyComprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Human mutationStructural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel.
Communications biologyGenotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
OphthalmologyTemporal dynamics of the neural representation of hue and luminance polarity.
Nature communicationsStructural changes to primary visual cortex in the congenital absence of cone input in achromatopsia.
NeuroImage. ClinicalThe safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review.
Genetics in medicine : official journal of the American College of Medical GeneticsOscillatory Potentials in Achromatopsia as a Tool for Understanding Cone Retinal Functions.
International journal of molecular sciencesAchromatopsia: Genetics and Gene Therapy.
Molecular diagnosis & therapyOuter retinal transduction by AAV2-7m8 following intravitreal injection in a sheep model of CNGA3 achromatopsia.
Gene therapyCNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle.
International journal of molecular sciencesTwo Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia.
Case reports in ophthalmologyStructural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia.
Frontiers in neuroscienceA deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.
Molecular visionGene Therapy Updates in Achromatopsia.
International ophthalmology clinicsATF6 is essential for human cone photoreceptor development.
Proceedings of the National Academy of Sciences of the United States of AmericaGene therapy for inherited retinal diseases.
Annals of translational medicineDisease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies.
Current issues in molecular biologySleep and circadian phenotype in people without cone-mediated vision: a case series of five CNGB3 and two CNGA3 patients.
Brain communicationsBlue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes.
International journal of molecular sciencesMouse Models of Achromatopsia in Addressing Temporal "Point of No Return" in Gene-Therapy.
International journal of molecular sciencesPaternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia.
International journal of molecular sciencesCortical Visual Mapping following Ocular Gene Augmentation Therapy for Achromatopsia.
The Journal of neuroscience : the official journal of the Society for NeuroscienceNon-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.
Molecular visionExamining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.
Translational vision science & technologyThree-year results of phase I retinal gene therapy trial for CNGA3-mutated achromatopsia: results of a non randomised controlled trial.
The British journal of ophthalmologyTackling the Challenges of Product Development Through a Collaborative Rare Disease Network: The Foundation Fighting Blindness Consortium.
Translational vision science & technologyPreservation of endoplasmic reticulum (ER) Ca2+ stores by deletion of inositol-1,4,5-trisphosphate receptor type 1 promotes ER retrotranslocation, proteostasis, and protein outer segment localization in cyclic nucleotide-gated channel-deficient cone photoreceptors.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyA Case of Acquired Cerebral Achromatopsia Secondary to Posterior Cerebral Artery Stroke.
CureusRetinal imaging in inherited retinal diseases.
Annals of eye scienceIdentification of Chemical and Pharmacological Chaperones for Correction of Trafficking-Deficient Mutant Cyclic Nucleotide-Gated A3 Channels.
Molecular pharmacologyErythropsia and Chromatopsia: Case Study and Brief Review.
Neuro-ophthalmology (Aeolus Press)Panel-based genetic testing for inherited retinal disease screening 176 genes.
Molecular genetics & genomic medicineComparison of confocal and non-confocal split-detection cone photoreceptor imaging.
Biomedical optics expressNovel AAV capsids for intravitreal gene therapy of photoreceptor disorders.
EMBO molecular medicineClinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.
International journal of molecular sciencesAmetropia and Emmetropization in CNGB3 Achromatopsia.
Investigative ophthalmology & visual scienceGene therapy in color vision deficiency: a review.
International ophthalmologyOptical Coherence Tomography Artifacts Are Associated With Adaptive Optics Scanning Light Ophthalmoscopy Success in Achromatopsia.
Translational vision science & technologySurgical Observations From the First 120 Cases of Subretinal Gene Therapy for Inherited Retinal Diseases.
Retina (Philadelphia, Pa.)The cGMP-Dependent Protein Kinase 2 Contributes to Cone Photoreceptor Degeneration in the Cnga3-Deficient Mouse Model of Achromatopsia.
International journal of molecular sciencesCurrent Clinical Applications of In Vivo Gene Therapy with AAVs.
Molecular therapy : the journal of the American Society of Gene TherapyNaturally-occurring myopia and loss of cone function in a sheep model of achromatopsia.
Scientific reportsNormal and abnormal foveal development.
The British journal of ophthalmologyUnilateral cone dysfunction with asymmetric maculopathy - Clinical features, multimodal imaging and genetic analysis of a novel phenotype.
Indian journal of ophthalmologyPDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
Investigative ophthalmology & visual scienceSensing through Non-Sensing Ocular Ion Channels.
International journal of molecular sciencesLong-Term Investigation of Retinal Function in Patients with Achromatopsia.
Investigative ophthalmology & visual scienceGeneration of Nonhuman Primate Model of Cone Dysfunction through In Situ AAV-Mediated CNGB3 Ablation.
Molecular therapy. Methods & clinical developmentGenotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.
Molecular visionPhenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization.
Investigative ophthalmology & visual scienceMolecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes.
International ophthalmologyPreservation of the Foveal Avascular Zone in Achromatopsia Despite the Absence of a Fully Formed Pit.
Investigative ophthalmology & visual scienceAutosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations.
Japanese journal of ophthalmologyIntraobserver Repeatability and Interobserver Reproducibility of Foveal Cone Density Measurements in CNGA3- and CNGB3-Associated Achromatopsia.
Translational vision science & technologyTwo novel PDE6C gene mutations in Chinese family with achromatopsia.
Ophthalmic geneticsGenetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.
Human mutationOptical Gap Biomarker in Cone-Dominant Retinal Dystrophy.
American journal of ophthalmologyCentral serous chorioretinopathy and achromatopsia: a case report.
Documenta ophthalmologica. Advances in ophthalmologySafety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial.
JAMA ophthalmologyNovel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia.
Iranian biomedical journalAAV-mediated human CNGB3 restores cone function in an all-cone mouse model of CNGB3 achromatopsia.
Journal of biomedical researchPrevalence of colour vision deficiency in the Republic of Ireland schoolchildren and associated socio-demographic factors.
Clinical & experimental optometryMultiexon deletion alleles of ATF6 linked to achromatopsia.
JCI insightLarge Animal Models of Inherited Retinal Degenerations: A Review.
CellsTargeting molecular pathways for the treatment of inherited retinal degeneration.
Neural regeneration researchPhotoreceptor Structure in GNAT2-Associated Achromatopsia.
Investigative ophthalmology & visual scienceImpact of gene therapy for canine monogenic diseases on the progress of preclinical studies.
Journal of applied geneticsPotential contribution of ryanodine receptor 2 upregulation to cGMP/PKG signaling-induced cone degeneration in cyclic nucleotide-gated channel deficiency.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Acromatopsia.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Acromatopsia
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Advanced therapeutic approaches for inherited retinal diseases: an umbrella review.
- Crop-OCT: a Fully Integrated Imageomics Pipeline to Identify Regional and Focal Retinopathy in Murine Models.
- Deletion involving exon 18 of RPGRIP1 is a major cause of achromatopsia.
- CNGA3-Related Achromatopsia: A 10-Year Follow-Up.
- Evaluation of Structural and Functional Retinal Changes in the Achromatopsia Spectrum with Multimodal Imaging.
- Epidemiology of Inherited Retinal Diseases in the United States: IRIS(®) Registry (Intelligent Research in Sight) Analysis.
- Achromatopsia and infantile nystagmus syndrome (INS): Outcome after eye muscle surgery.
- Genetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:49382(Orphanet)
- MONDO:0018852(MONDO)
- GARD:15015(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q432396(Wikidata)
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
