A síndrome de microcefalia-fenda palatina com pigmentação retiniana anormal é uma síndrome rara de fissura orofacial caracterizada por microcefalia, fissura do palato secundário e outras anormalidades variáveis, incluindo pigmentação retiniana anormal, dismorfismo facial com hipotelorismo e hipoplasia maxilar. Bócio, camptodactilia, dermatoglifia anormal e deficiência intelectual leve também podem estar associados. Não houve mais descrições na literatura desde 1983.
Introdução
O que você precisa saber de cara
A síndrome de microcefalia-fenda palatina com pigmentação retiniana anormal é uma síndrome rara de fissura orofacial caracterizada por microcefalia, fissura do palato secundário e outras anormalidades variáveis, incluindo pigmentação retiniana anormal, dismorfismo facial com hipotelorismo e hipoplasia maxilar. Bócio, camptodactilia, dermatoglifia anormal e deficiência intelectual leve também podem estar associados. Não houve mais descrições na literatura desde 1983.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 1 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 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
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 — Síndrome de microcefalia-fenda palatina-pigmentação da retina anormal
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Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
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Publicações mais relevantes
Evaluation of Melanin Changes in Acute Vogt-Koyanagi-Harada Disease Using Polarization-Sensitive Optical Coherence Tomography.
To examine melanin changes in the RPE and choroid during the acute phase of Vogt-Koyanagi-Harada (VKH) disease using polarization-sensitive optical coherence tomography (PS-OCT). This study included 15 eyes of 8 patients with new-onset VKH disease and 5 eyes of 3 patients with posterior scleritis. PS-OCT captured a 12 × 12 mm area centered on the fovea, and en face images were created for the RPE and choroid. Polarimetric entropy within a 6-mm diameter circle centered on the fovea was calculated and compared between groups. Choroidal polarimetric entropy was significantly lower in eyes with VKH disease than in those with posterior scleritis at baseline (0.296 ± 0.047 vs. 0.392 ± 0.050; P = 0.005; r = 0.64; 95% confidence interval, 0.42-0.74). One month after starting treatment, eyes with VKH disease showed a significant increase in choroidal polarimetric entropy (0.296 ± 0.047 to 0.350 ± 0.075; P = 0.001; r = 0.85; 95% confidence interval, 0.61-0.95), whereas no significant change was observed in eyes with posterior scleritis. RPE polarimetric entropy showed no significant changes between baseline and 1 month, with no differences between groups. PS-OCT revealed that choroidal melanin density decreased during the acute phase of VKH disease and significantly increased after treatment. PS-OCT provides a noninvasive method for observing melanin dynamics in VKH disease and aids in differentiating it from posterior scleritis. PS-OCT could offer valuable insights into the pathology of VKH disease and its potential implications for management.
Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.
Usher syndrome type 1B (USH1B) is a rare inherited disorder characterized by congenital deafness and progressive retinitis pigmentosa, caused by biallelic pathogenic variants in the MYO7A gene. We explored extracellular vesicles (EVs) from two sources: human tears and iPSC-derived RPE cells from USH1B patients and controls. Tear EVs were assessed as a non-invasive biomarker source, while RPE-derived EVs provided insights into disease mechanisms in a controlled, cell-type-specific context. Although RPE differentiation was successful and MYO7A expression levels were similar between patients and controls, Myosin VIIA was not detected by western blot in the patient-derived cells. We examined the EV cargo by small non-coding RNAs (sncRNAs) sequencing from iPSC-RPE apical site and tears to identify molecular signatures of retinal degeneration. Tear EVs showed higher load and diversity of miRNAs than RPE-derived EVs, reflecting a broader ocular origin. Comparative analysis revealed shared retinal sncRNAs (hsa-miR-204, hsa-miR-211, hsa-miR-181a-5p) and group-specific differences. Notably, when comparing to controls, hsa-miR-200a-3p and hsa-miR-194-5p were upregulated in patient tear EVs, while let-7i/c-5p and hsa-miR-320a/b, were downregulated in-patient RPE-derived EVs. Pathway analysis linked these sncRNAs to retinal structure and function, including cytoskeletal remodeling and junctional integrity. Our findings highlight the potential of tear EVs as a non-invasive source of biomarkers that capture retinal molecular alterations in USH1B, with applications for diagnosis, monitoring, and therapeutic development. Although this is a pilot study focused on uncovering promising biomarkers rather than establishing definitive cause-effect mechanisms, it provides a foundation for future research with larger cohorts to validate and expand these findings.
Congenital Optic Nerve Anomalies and Associated Systemic Conditions.
Congenital optic nerve anomalies represent a group of structural malformations that impair vision, increase the risk of ophthalmic complications, and are frequently associated with systemic conditions. We provide a review of major congenital optic disc anomalies, including optic nerve hypoplasia, morning glory disc anomaly, optic disc coloboma, peripapillary staphyloma, persistent fetal vasculature, myelinated nerve fibers, tilted disc syndrome, optic disc pit, papillorenal syndrome, optic disc drusen, and congenital optic disc pigmentation. We will review the definition, epidemiology, pathophysiology, clinical presentation, diagnostic workup, and associated systemic findings. An emphasis is placed on screening and multidisciplinary management aimed at correcting and preserving vision and preventing complications, such as retinal detachment, maculopathy, strabismus, amblyopia, and endocrine disorders. Diagnosis tools, including optical coherence tomography (OCT), B-scan ultrasonography, magnetic resonance imaging (MRI), and computed tomography (CT), are highlighted for their role in screening for these conditions. Many congenital optic nerve anomalies lack a definitive cure, and some conditions are extremely rare and do not have well-defined treatment protocols. However, routine ophthalmic examination, correction of refractive errors, visual surveillance for systemic conditions, and surgical intervention can optimize patient outcomes. Furthermore, multidisciplinary collaboration between ophthalmologists and other physicians, including pediatricians, endocrinologists, neurologists, and geneticists is often needed to facilitate care.
NON-INFECTIOUS POSTERIOR UVEITIDES - Atypicals, Variants, and Masquerades: the jungle of differential diagnosis.
Non-infectious posterior and panuveitides (NIPUs) comprise a heterogeneous group of inflammatory disorders of the outer retina and choroid, historically referred to as "white dot syndromes." Recent consensus efforts by the Multimodal Imaging in Uveitis (MUV) Task Force have established standardized diagnostic criteria for the major NIPUs, including multiple evanescent white dot syndrome (MEWDS), multifocal choroiditis and panuveitis/punctate inner choroiditis (MFCPU/PIC), acute posterior multifocal placoid pigment epitheliopathy (APMPPE), serpiginous choroiditis, and birdshot chorioretinopathy (BSCR). Nevertheless, a substantial proportion of cases deviate from classical presentations and fall into diagnostic "grey zones", blurring boundaries between diseases entities and complicating both differential diagnosis and management. This review aims to describe the broad spectrum of atypical, variant, and secondary forms of NIPUs as well as masquerade syndromes. Atypical MEWDS includes bilateral presentations or complicated courses, while MFCPU/PIC with outer retinal atrophy emerges as a notable entity with unclear therapeutic implications. Inflammatory reactions resembling both MEWDS and MFCPU/PIC may also occur as secondary phenomena, triggered by other chorioretinal disorders, most notably inherited retinal diseases (IRDs). Placoid chorioretinopathies, including APMPPE, persistent placoid maculopathy, serpiginous choroiditis, and relentless placoid chorioretinitis, are often distinguished only a posteriori based on disease course, but likely represent a continuum of disorders unified by choroidal ischemia. Atypical presentations of BSCR may feature extensive outer retinal damage, mimicking IRDs. Equally important is the consideration of masquerade syndromes in all suspected cases of NIPUs, as they can present with similar features yet require entirely different treatments. Infectious masquerades include tuberculosis-associated serpiginous-like choroiditis, acute syphilitic posterior placoid chorioretinopathy, and West Nile virus chorioretinitis, whereas vitreoretinal lymphoma is the most frequent neoplastic masquerade. In conclusion, integrating clinical context with high-quality multimodal imaging remains essential to navigate the jungle of differential diagnosis in NIPUs, while future studies should aim to link imaging phenotypes with immune and molecular biomarkers to refine classification and guide targeted therapies.
Paraneoplastic vitelliform retinopathy successfully treated with intravitreal dexamethasone implants.
To report a rare case of paraneoplastic vitelliform retinopathy, characterized by detachments of the retinal pigment epithelium and neurosensory retina manifesting as vitelliform lesions, successfully managed with a sustained-release intravitreal dexamethasone implant in a patient receiving systemic immunotherapy for metastatic cutaneous melanoma. A 79-year-old man presented with progressive bilateral visual loss and serous retinal detachment. Multimodal retinal imaging revealed bilateral vitelliform lesions, choroidal thickening, and subretinal fluid. Electroretinography demonstrated an electronegative waveform, supporting the diagnosis of a condition in the spectrum of MAR. Systemic evaluation revealed axillary melanoma metastasis confirmed by fine-needle aspiration. Despite treatment with systemic pembrolizumab and a trial of intravitreal anti-VEGF injections, visual symptoms and subretinal fluid persisted. Bilateral intravitreal dexamethasone implants led to marked anatomical and functional improvement within one month, with sustained benefits observed over a two-year follow-up. This case highlights the potential role of local corticosteroid therapy in paraneoplastic vitelliform lesions secondary to metastatic melanoma, particularly when systemic immunosuppression is contraindicated.
Publicações recentes
Noninfectious Uveitis Syndromes.
Spaceflight Associated Neuro-Ocular Syndrome as a Potential Variant of Venous Overload Choroidopathy.
Artificial Intelligence Deep Learning Models to Predict Spaceflight Associated Neuro-Ocular Syndrome.
Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.
Reabsorption of vitreomacular traction syndrome-related acquired vitelliform lesions after pars plana vitrectomy.
📚 EuropePMCmostrando 198
Congenital Optic Nerve Anomalies and Associated Systemic Conditions.
International ophthalmology clinicsNON-INFECTIOUS POSTERIOR UVEITIDES - Atypicals, Variants, and Masquerades: the jungle of differential diagnosis.
American journal of ophthalmologyParaneoplastic vitelliform retinopathy successfully treated with intravitreal dexamethasone implants.
American journal of ophthalmology case reportsMultimodal Imaging Features of Bilateral Diffuse Uveal Melanocytic Proliferation: A Systematic Review of 82 Patients.
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Cureus[Neovascular complications of choroidal osteoma: Diagnosis and treatment].
Journal francais d'ophtalmologieSplicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos.
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American journal of medical genetics. Part APhenotypic expansion of retinal abnormalities in folliculin (FLCN) variant-related pathology (Birt-Hogg-Dubé syndrome).
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International journal of ophthalmology[Clinical and genetic characteristics of 6 cases of congenital dyskeratosis in children].
Zhonghua er ke za zhi = Chinese journal of pediatricsBilateral ampiginous choroiditis after COVID-19: a report of two cases.
Romanian journal of ophthalmologyBilateral multiple evanescent white dot syndrome documented and followed by swept-source OCT angiography: a case report.
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American journal of ophthalmology case reportsNoninfectious Uveitis Syndromes.
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Journal of investigative medicine high impact case reports[Genetic analysis of a child with gastrointestinal hemorrhage and Cerebroretinal microangiopathy with calcifications and cysts and a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsStrabismus and nystagmus in oculocutaneous albinism: clinical perspectives, diagnosis, and role of neurotransmitters.
NeurogeneticsArtificial Intelligence Deep Learning Models to Predict Spaceflight Associated Neuro-Ocular Syndrome.
American journal of ophthalmologyClinical and Imaging Features Aiding the Differentiation of Acute Posterior Multifocal Placoid Pigmented Epitheliopathy from Other Placoid Diseases.
Ocular immunology and inflammationA Closer Look: Familial Adenomatous Polyposis Suspected Through Ophthalmological Findings in an Adolescent.
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AutophagySyndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.
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Ocular immunology and inflammationOptical Coherence Tomography Biomarkers in Acute Vogt-Koyanagi-Harada Disease: Clinical Significance of Hyperreflective Outer Nuclear Layer and Bacillary Layer Detachment.
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bioRxiv : the preprint server for biologyComparison of Fundus Autofluorescence and Indocyanine Green Angiography in Multiple Evanescent White Dot Syndrome.
Ophthalmology scienceRetinal Vasculitis in Familial Blau Syndrome.
Ocular immunology and inflammationAtypical Mid-Late Phase ICGA Hyperfluorescence in a Secondary MEWDS Case: A Distinct Disease or a Shift in Our Understanding of MEWDS?
Ocular immunology and inflammationA novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.
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Ocular immunology and inflammationMitochondrial DNA Pathogenic Variants in Ophthalmic Diseases: A Review.
Genes[VOGT-KOYANAGI-HARADA SYNDROME].
HarefuahH105A peptide eye drops promote photoreceptor survival in murine and human models of retinal degeneration.
Communications medicineDepigmentation of RPE Hypertrophy in Vogt-Koyanagi-Harada Syndrome.
JAMA ophthalmologyUnilateral choroidal detachment in an elderly patient with Vogt-Koyanagi-Harada disease: a case report and literature review.
Frontiers in immunologyPeripapillary alterations in Idiopathic Normal Pressure Hydrocephalus.
Retina (Philadelphia, Pa.)Vitrectomy Combined With Gas Tamponade for the Treatment of Morning Glory Syndrome With Rhegmatogenous Retinal Detachment: A Case Report.
CureusBilateral drusenoid deposits with subretinal fluid and cystoid macular edema in a serum anti-phospholipase A2 receptor antibody positive patient: A case report.
HeliyonSpatial characterization of RPE structure and lipids in the PEX1-p.Gly844Asp mouse model for Zellweger spectrum disorder.
Journal of lipid researchA novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.
Human molecular geneticsTIM8 Deficiency in Yeast Induces Endoplasmic Reticulum Stress and Shortens the Chronological Lifespan.
BiomoleculesCHOROIDAL NEOVASCULARIZATION IN A CHILD WITH DOWN SYNDROME.
Retinal cases & brief reportsIdiopathic Acute Exudative Polymorphous Vitelliform Maculopathy: A Case Report.
International medical case reports journalA Case of Concomitant Acute Zonal Occult Outer Retinopathy and Secondary Nonparaneoplastic Autoimmune Retinopathy.
Case reports in ophthalmologyReabsorption of vitreomacular traction syndrome-related acquired vitelliform lesions after pars plana vitrectomy.
International ophthalmologyCharacterisation of SLC38A8 and Its Role in Retinal Pathways and Disease.
Clinical & experimental ophthalmologyTorpedo maculopathy in a patient with DeSanto-Shinawi syndrome.
European journal of ophthalmologyChoroidal neovascularization secondary to angioid streaks in a patient with pseudoxanthoma elasticum: case report.
Romanian journal of ophthalmologyTwo Cases of ROSAH-Like Syndrome Restricted to the Ophthalmologic Presentation.
Ocular immunology and inflammationFamilial adenomatous polyposis family with clustering of psychiatric disorders.
Japanese journal of clinical oncologyPrecocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl.
BMJ case reportsPosterior segment findings in a patient with a CDHR1 biallelic pathogenic variant.
American journal of ophthalmology case reports[Peripapillary pachychoroid syndrome].
Vestnik oftalmologii[Retinopathy associated with thrombotic microangiopathy of mixed origin (case report)].
Vestnik oftalmologiiA case documenting distinct natural history of multizonal outer retinopathy and retinal pigment epitheliopathy (MORR) with longitudinal multi-modal documentation of progression.
American journal of ophthalmology case reportsStage 1 Extensive Macular Atrophy with Pseudodrusen-Like Appearance Complicated by Multiple Evanescent White Dot Syndrome-Like Reaction.
Ocular immunology and inflammationAn update of multimodal imaging in white dot syndrome.
Oman journal of ophthalmologyNodular Posterior Scleritis Mimicking Non-pigmented Choroidal Melanoma: A Case Report and Literature Review.
CureusCBL syndrome presenting with severe EBV infection and panuveitis masquerade.
European journal of ophthalmologyThe Ercc1-/Δ mouse model of XFE progeroid syndrome undergoes accelerated retinal degeneration.
Aging cellAsymmetric choroidal vascular pattern in tilted disc syndrome.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieA Rare Case of Combined Direct Retinal Involvement and Suspected Bing-Neel Syndrome in a Patient With Waldenstrom's Macroglobulinemia.
CureusBILATERAL MACULAR DYSPLASIA IN COFFIN-SIRIS SYNDROME.
Retinal cases & brief reportsRetinal Pigment Epithelial Proliferation Secondary to Retinal Ischemia: A Case Report and Literature Review.
Case reports in ophthalmologyBilateral asynchronous acute idiopathic maculopathy with disease recurrence.
American journal of ophthalmology case reportsMultiple Evanescent White Dot Syndrome (MEWDS) Secondary to Acute Retinal Pigment Epitheliitis: Possible Atypical Presentation of MEWDS?
Ocular immunology and inflammationSECONDARY MULTIPLE EVANESCENT WHITE DOT SYNDROME IN A PATIENT WITH NORTH CAROLINA MACULAR DYSTROPHY.
Retinal cases & brief reportsprominin-1-null Xenopus laevis develop subretinal drusenoid-like deposits, cone-rod dystrophy and RPE atrophy.
Journal of cell scienceMultimodal Evaluation and Management of Wagner Syndrome-Three Patients from an Affected Family.
GenesOverlapping clinical features of persistent fetal vasculature and combined hamartoma of the retina and retinal pigment epithelium.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusExpanding the mutational and phenotypical spectrum of FHONDA syndrome.
European journal of ophthalmologyOphthalmic findings in Alström syndrome.
Ophthalmic geneticsA novel large multi-gene deletion in syndromic choroideremia.
Ophthalmic geneticsA Case Report and Literature Review of Vogt-Koyanagi-Harada-Like Uveitis Secondary to Dabrafenib and Trametinib: 4-Year Follow-Up Using Retinal Multimodal Imaging.
Ocular immunology and inflammationClinical spectrum and possible pathogenesis of progressive outer retinal necrosis.
The British journal of ophthalmologyDescription and Characteristics of Ocular Tumor Lysis Syndrome.
Ocular oncology and pathologyAssociation Between Baseline Macular Morphologic Features on Optical Coherence Tomography and Visual Outcomes in Patients with Vogt-Koyanagi-Harada Disease.
Ocular immunology and inflammationAge-related retinal degeneration resulting from the deletion of Shp2 tyrosine phosphatase in photoreceptor neurons.
Cell death & diseaseMI-181 Modulates Cilia Length and Restores Cilia Length in Cells with Defective Shortened Cilia.
ACS chemical biologySECONDARY MULTIPLE EVANESCENT WHITE DOT SYNDROME AFTER BLUNT TRAUMA.
Retinal cases & brief reportsMFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity.
Frontiers in geneticsPREDNISOLONE EYE DROPS AS A POTENTIAL TREATMENT IN NONNEOVASCULAR PACHYCHOROID-RELATED DISEASES.
Retina (Philadelphia, Pa.)Characterization of Ocular Morphology in Col4a3-/- Mice as a Murine Model for Alport Syndrome.
Translational vision science & technologyNon-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study.
Documenta ophthalmologica. Advances in ophthalmologyOcular toxicity of psychotropic medications in a tertiary hospital in Lagos, Nigeria.
Romanian journal of ophthalmologyApplication of Ophthalmic Electrophysiology in Inflammatory Disorders of Retina and Optic Nerve.
Journal of clinical medicineMultimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights.
Scientific reportsA novel small deletion in CWC27 gene associated with CWC27-related spliceosomeopathy.
Ophthalmic geneticsDetailed phenotype and long-term follow-up of RAB28-associated cone-rod dystrophy.
Ophthalmic geneticsDynamic Changes of Fundus and Predictors of Visual Prognosis in New-Onset Vogt-Koyanagi-Harada Disease.
Ocular immunology and inflammationProminin-1 null Xenopus laevis develop subretinal drusenoid-like deposits, cone-rod dystrophy, and RPE atrophy.
bioRxiv : the preprint server for biologyCoexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes.
International journal of molecular sciencesOptical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologiePigmentary retinal dystrophy associated with peroxisome biogenesis disorder-Zellweger syndrome spectrum.
Oxford medical case reportsVogt-Koyanagi-Harada Disease: A Narrative Review.
CureusA novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome.
Molecular biology reportsSjögren: unique surname, two men, four syndromes and one disease.
Arquivos de neuro-psiquiatriaVitiligo as a First Sign of Vogt-Koyanagi-Harada Disease.
Acta dermatovenerologica Croatica : ADCRestoring retinal polyunsaturated fatty acid balance and retina function by targeting ceramide in AdipoR1-deficient mice.
The Journal of biological chemistryTrousseau's Syndrome With Severe Visual Loss As the Initial Symptom.
CureusEvaluation of clinical outcomes of raised intraocular pressure following intravitreal triamcinolone acetonide injection.
Romanian journal of ophthalmologyTraumatic terson syndrome with a peculiar mass lesion and tractional retinal detachment: a case report.
BMC ophthalmologyA case of secondary multiple evanescent white dot syndrome in a patient with preexisting wet age-related macular degeneration.
American journal of ophthalmology case reportsDiagnostic Challenges in Inflammatory Choroidal Neovascularization.
Medicina (Kaunas, Lithuania)Value and Significance of Hypofluorescent Lesions Seen on Late-Phase Indocyanine Green Angiography.
Ophthalmology scienceWhite Dot Syndromes: Report of Three Cases.
Case reports in ophthalmologyOcular Involvement in Systemic Sclerosis: Updated Review and New Insights on Microvascular Impairment.
Ocular immunology and inflammationCurrent understanding of acute zonal occult outer retinopathy (AZOOR).
Indian journal of ophthalmologyBilateral helicoid peri-papillary sub-retinal fibrosis due to a biallelic NR2E3 mutation: Describing variable expressivity of a mutation.
European journal of ophthalmologySUCCESSFUL TREATMENT OF CANCER-ASSOCIATED RETINOPATHY WITH INTRAVITREAL DEXAMETHASONE IMPLANT FOLLOWED BY A 0.18-MG FLUOCINOLONE IMPLANT WITHOUT SYSTEMIC IMMUNOSUPPRESSION.
Retinal cases & brief reportsPeripapillary retinal neovascularization and vitreous hemorrhage secondary to peripapillary pachychoroid syndrome.
American journal of ophthalmology case reportsEvaluation and comparison of microperimetry and optical coherence tomography findings in patients with Behçet uveitis.
International ophthalmologyGenetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.
Hereditasm6A-Mediated Upregulation of Imprinted in Prader-Willi Syndrome Induces Aberrant Apical-Basal Polarization and Oxidative Damage in RPE Cells.
Investigative ophthalmology & visual scienceRegeneration from three cellular sources and ectopic mini-retina formation upon neurotoxic retinal degeneration in Xenopus.
GliaGeneration of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome.
Stem cell researchUnilateral acute posterior multifocal placoid pigment epitheliopathy (APMPPE) with delayed contralateral eye involvement.
BMC ophthalmologyLong-term follow-up of torpedo maculopathy: a case series and mini-review.
BMC ophthalmology[Analysis of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferinemia cataract syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsCoronavirus Disease 2019-induced Acute Exudative Polymorphous Vitelliform Maculopathy.
Middle East African journal of ophthalmologyUveal effusion syndrome following COVID-19 vaccination.
American journal of ophthalmology case reportsUnique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyOcular manifestations in Koolen-de Vries syndrome: an international study.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologiePurple Corn Extract Improves Dry Eye Symptoms in Models Induced by Desiccating Stress and Extraorbital Lacrimal Gland Excision.
NutrientsManagement of Bilateral Diffuse Uveal Melanocytic Proliferation (BDUMP)-A Case Report.
Medicina (Kaunas, Lithuania)Pigmented paravenous retinochoroidal atrophy in an infant with unilateral macular involvement: case report and literature review.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieCLINICAL CHARACTERISTICS, TREATMENT MODALITIES, AND THEIR ASSOCIATION WITH LONG-TERM VISUAL OUTCOMES IN UVEAL EFFUSION SYNDROME.
Retina (Philadelphia, Pa.)A PEDF peptide mimetic effectively relieves dry eye in a diabetic murine model by restoring corneal nerve, barrier, and lacrimal gland function.
The ocular surfaceMultimodal photoacoustic microscopy, optical coherence tomography, and fluorescence imaging of USH2A knockout rabbits.
Scientific reportsDifferential diagnosis of myopic choroidal neovascularization (mCNV): insights from multimodal imaging and treatment implications.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieDeletion of IFT20 exclusively in the RPE ablates primary cilia and leads to retinal degeneration.
PLoS biologyTorpedo maculopathy in Costello syndrome.
Journal francais d'ophtalmologieCURRENT VIEW OF THE SPECTRUM OF PACHYCHOROID DISEASES. A REVIEW.
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnostiA 30-Year-Old Man with a Recent History of COVID-19 Requiring Treatment with Corticosteroids Who Developed Bilateral Central Serous Chorioretinopathy During 7-Month Follow-Up.
The American journal of case reportsFLOTCH Syndrome: A Case of Leukonychia Totalis and Multiple Pilar Cysts.
CutisSS OCT and OCT-A Findings in Convalescent Inactive Vogt-Koyanagi-Harada Disease.
Ocular immunology and inflammationEarly pigment spot segmentation and classification from iris cellular image analysis with explainable deep learning and multiclass support vector machine.
Biochemistry and cell biology = Biochimie et biologie cellulaire[Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsCohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy.
Case reports in ophthalmologyAn Update on Multimodal Ophthalmological Imaging of Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome.
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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.
- Evaluation of Melanin Changes in Acute Vogt-Koyanagi-Harada Disease Using Polarization-Sensitive Optical Coherence Tomography.
- Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.
- Congenital Optic Nerve Anomalies and Associated Systemic Conditions.
- NON-INFECTIOUS POSTERIOR UVEITIDES - Atypicals, Variants, and Masquerades: the jungle of differential diagnosis.
- Paraneoplastic vitelliform retinopathy successfully treated with intravitreal dexamethasone implants.
- Noninfectious Uveitis Syndromes.
- Spaceflight Associated Neuro-Ocular Syndrome as a Potential Variant of Venous Overload Choroidopathy.
- Artificial Intelligence Deep Learning Models to Predict Spaceflight Associated Neuro-Ocular Syndrome.
- Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.
- Reabsorption of vitreomacular traction syndrome-related acquired vitelliform lesions after pars plana vitrectomy.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2521(Orphanet)
- MONDO:0016750(MONDO)
- GARD:8623(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q5641058(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
