Albinismo oculocutâneo (AOC) descreve um grupo de doenças genéticas herdadas que afetam a produção de melanina. Ele é caracterizado por uma diminuição generalizada na pigmentação (cor) do cabelo, da pele e dos olhos, além de diferentes alterações nos olhos, como nistagmo (movimento involuntário dos olhos), visão reduzida e fotofobia (sensibilidade à luz). As variantes incluem AOC1A (a forma mais grave), AOC1B, AOC1-pigmento mínimo (AOC1-MP), AOC1-sensível à temperatura (AOC1-TS), AOC2, AOC3, AOC4, AOC5, AOC6 e AOC7.
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Albinismo oculocutâneo (AOC) descreve um grupo de doenças genéticas herdadas que afetam a produção de melanina. Ele é caracterizado por uma diminuição generalizada na pigmentação (cor) do cabelo, da pele e dos olhos, além de diferentes alterações nos olhos, como nistagmo (movimento involuntário dos olhos), visão reduzida e fotofobia (sensibilidade à luz). As variantes incluem AOC1A (a forma mais grave), AOC1B, AOC1-pigmento mínimo (AOC1-MP), AOC1-sensível à temperatura (AOC1-TS), AOC2, AOC3, AOC4, AOC5, AOC6 e AOC7.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 19 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 60 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
8 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Required for melanocyte differentiation
Albinism, oculocutaneous, 7
A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.
Plays a role in melanin biosynthesis (PubMed:33100333). Catalyzes the conversion of L-dopachrome into 5,6-dihydroxyindole-2-carboxylic acid (DHICA)
Melanosome membraneMelanosome
Albinism, oculocutaneous, 8
A form of oculocutaneous albinism, a disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. OCA8 is an autosomal recessive form characterized by mild hair and skin hypopigmentation, associated with ocular features including nystagmus, reduced visual acuity, iris transillumination, and hypopigmentation of the retina.
This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine (By similarity). In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone (PubMed:28661582)
Melanosome membraneMelanosome
Albinism, oculocutaneous, 1A
An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia.
Proton-associated glucose and sucrose transporter (By similarity). May be able to transport also fructose (By similarity). Expressed at a late melanosome maturation stage where functions as proton/glucose exporter which increase lumenal pH by decreasing glycolysis (PubMed:32966160, PubMed:35469906). Regulates melanogenesis by maintaining melanosome neutralization that is initially initiated by transient OCA2 and required for a proper function of the tyrosinase TYR (PubMed:32966160, PubMed:354699
Melanosome membrane
Albinism, oculocutaneous, 4
A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.
Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation (PubMed:11310796, PubMed:15262401, PubMed:22234890, PubMed:25513726). One of the components of the mammalian pigmentary system (PubMed:15262401, PubMed:18252222, PubMed:7601462). May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color (PubMe
Melanosome membrane
Albinism, oculocutaneous, 2
An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides.
Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+) (PubMed:18166528). Involved in pigmentation, possibly by participating in ion transport in melanosomes (PubMed:16357253, PubMed:18166528). Predominant sodium-calcium exchanger in melanocytes (PubMed:16357253, PubMed:18166528)
Golgi apparatus, trans-Golgi network membraneMelanosome
Albinism, oculocutaneous, 6
A disorder characterized by a reduction or complete loss of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus.
Plays a role in melanin biosynthesis (PubMed:16704458, PubMed:22556244, PubMed:23504663). Catalyzes the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid in the presence of bound Cu(2+) ions, but not in the presence of Zn(2+) (PubMed:28661582). May regulate or influence the type of melanin synthesized (PubMed:16704458, PubMed:22556244). Also to a lower extent, capable of hydroxylating tyrosine and producing melanin (By similarity)
Melanosome membrane
Albinism, oculocutaneous, 3
An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Tyrosinase activity is normal and patients have only moderate reduction of pigment. The eyes present red reflex on transillumination of the iris, dilution of color of iris, nystagmus and strabismus. Darker-skinned individuals have bright copper-red coloration of the skin and hair.
G protein-coupled receptor that binds melanocyte-stimulating hormones (alpha, beta, and gamma-MSH) and adrenocorticotropic hormone/ACTH, which are peptide products of the POMC precursor protein (PubMed:11442765, PubMed:11707265, PubMed:1325670, PubMed:1516719, PubMed:8463333). Upon activation, MC1R couples with the G(s) protein, stimulating adenylate cyclase and activating the cAMP-dependent signaling pathway. This activation promotes melanogenesis, resulting in the production of eumelanin (blac
Cell membrane
Melanoma, cutaneous malignant 5
A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but may also involve other sites.
Medicamentos e terapias
Mecanismo: DOPA decarboxylase inhibitor
Mecanismo: Dopamine D3 receptor agonist
Mecanismo: DOPA decarboxylase inhibitor
Variantes genéticas (ClinVar)
530 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 924 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 — Albinismo oculocutâneo
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Ensaios clínicos abertos e novidades científicas recentes
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Outros ensaios clínicos
20 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.
Oculocutaneous albinism (OCA) are genetically and clinically heterogeneous recessive disorders with at least 23 associated genes. Isolated OCA is characterized by hypopigmentation in the skin, hair, and eyes combined with ocular abnormalities. Hermansky Pudlak syndrome (HPS) and Chediak-Higaski syndrome are syndromic forms of OCA, distinguished by immunological and hematological symptoms in addition to hypopigmentation and ocular anomalies. Targeted clinical care is crucial for the patients and molecular genetic diagnosis is important for classification of patients. Current diagnostic yield is approximately 70%, and a high proportion of patients are heterozygous for pathogenic variants in OCA genes, suggesting the presence of disease-causing non-coding variants. We describe here next generation sequencing (NGS) analysis, including copy number variant (CNV) analysis, of 28 consanguineous families, comprising a total of 136 individuals presenting with OCA. We provide a molecular genetic diagnosis in all 28 families. Noteworthy, five families (18%) had pathogenic variants in a gene associated with HPS, showing the importance of an in-depth molecular genetic investigation, which should be offered to persons with albinism. Furthermore, we report the first deep intron variant in TYR causing OCA and show by minigene analysis that the variant causes inclusion of a pseudoexon.
Insights from Computational Dynamic Active Site Mapping into Substrate Recognition and Mutation-Induced Dysfunction in Human Tyrosinase.
The ability of enzymes to recognize and process structurally diverse substrates is fundamental to metabolic flexibility and biological regulation. In melanin biosynthesis, human tyrosinase (Tyr) catalyzes the oxidation of several chemically distinct intermediates, including L-tyrosine, L-DOPA, DHICA, and DHI. Although its catalytic chemistry is well established, the structural basis of substrate selectivity and how it is altered by disease-associated mutations remains unclear. Using molecular docking and molecular dynamics simulations, we mapped the Tyr active site and identified 23 evolutionarily conserved residues that mediate multi-substrate recognition and binding. Across all substrates, binding induces coordinated conformational responses, particularly within an anchoring region (334-347) that provides electrostatic and hydrophobic steering, and a flexible gating loop (374-386) that modulates access and stabilizes bound intermediates. The OCA1B-associated P406L mutation, although distant from the catalytic core, disrupts long-range dynamic coupling and impairs loop flexibility, while 25 ClinVar-listed genetic variants at substrate-interacting residues weaken active-site organization, underscoring the sensitivity of Tyr's dynamic network to perturbation. Integrating these findings, we propose an ordered multi-substrate binding mechanism in which substrates are first guided by the anchoring region, then aligned by the universal triad, and finally refined through loop-mediated, substrate-specific contacts. Our work suggests a dynamic framework that could be useful for understanding human tyrosinase catalysis, genetic mutation impact, and future engineering strategies.
A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling.
To investigate the clinical characteristics of autosomal dominant oculocutaneous albinism (OCA) and functionally validate the heterozygous SLC45A2(W74R) variant using a zebrafish model. Three members of a Korean family with OCA underwent comprehensive clinical examinations. Targeted panel and genome sequencing were performed on the proband, and Sanger sequencing was performed on all affected family members. To assess the pathogenicity of the genetic variant, a slc45a2 knockout (KO) zebrafish model was generated using CRISPR technology. All three affected patients exhibited hair and iris hypopigmentation, with variable foveal hypoplasia and nystagmus. A heterozygous c.220T>C:p.(W74R) variant in SLC45A2 was identified and was absent in gnomAD v4.1. Multiple in silico predictions supported its pathogenicity (AlphaMissense: 0.993, CADD: 29.6, REVEL: 0.951). Genome sequencing revealed no additional pathogenic or common hypomorphic variants in other known OCA-related genes. The slc45a2 KO zebrafish exhibited a typical albino phenotype, which was rescued by melanocyte-specific expression of normal SLC45A2 but not by the SLC45A2(W74R) variant. Furthermore, the SLC45A2(W74R) variant suppressed pigmentation in heterozygous KO, but not in wild-type zebrafish, indicating a dominant-negative effect in a dosage-dependent manner. This study demonstrated that a heterozygous c.220T>C:p.(W74R) variant in SLC45A2 causes variable expressivity of OCA in a dominant inherited manner, and this variant interferes with melanogenesis in zebrafish. This study expands the mode of inheritance in OCA and provides crucial functional validation that is important for genetic counseling.
Correction of Abnormal Head Position in Pediatric Nystagmus Using Yoked Low-Value Prism Glasses: A Retrospective Study.
Nystagmus involves abnormal head positions (AHPs) toward the null point for improving visual acuity. While surgical interventions are the standard therapy, the use of yoked prisms is a possibility not often used. Our team used low-value prisms in children to mitigate AHP. Yoked prisms were tailored to the direction of head turn. Thirty-one children were reviewed. Outcomes were binocular best-corrected visual acuity (BBCVA) and AHP measures with and without prisms. Of the 31 patients aged 10.3 ± 3.6 years (16 male), 19 were diagnosed with idiopathic infantile nystagmus syndrome, 6 with oculocutaneous albinism, and 6 with other secondary nystagmus. Prism's average prescription was 3.9 ± 1.25 diopters. BBCVA for distance averaged 0.44 ± 0.22 logMAR, improving to 0.41 ± 0.23 logMAR (P = 0.001, small size effect). AHP reduced from 16.9° ± 9.9° to 4.6° ± 5.8° for distance vision (P < 0.0001) and 12.7° ± 12.9° to 3.8° ± 6.2° for near vision (P < 0.0001), both with large size effects. The angle of the prisms most frequently prescribed was 180° (26 cases), as well as 2 cases at 135°, 1 case at 30°, and 2 cases at 90°. Our study found an improvement in AHP using low-value prisms in a pediatric population with nystagmus. Allowing the use of primary gaze position, prisms may be a therapeutic option to reduce the physical and social difficulties from AHP in these cases. This study provides the first quantitative assessment of the minimal prism values required to significantly reduce abnormal head posture in nystagmus, offering a valuable adjunctive treatment option for these patients.
Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting.
To present a case of type II oculocutaneous albinism (OCA2) diagnosed in infancy following the finding of nystagmus, and to review the diagnostic process and the management of this disorder. A 4-month-old female presented with subtle, roving eyes that were initially attributed to normal development. A subsequent evaluation by a pediatric ophthalmologist, prompted by a high index of suspicion, confirmed the findings of nystagmus, mild foveal hypoplasia, and astigmatism. Genetic testing confirmed the presence of pathological variants of the OCA2 gene, leading to a diagnosis of oculocutaneous albinism. This case highlights the importance of a meticulous ophthalmologic examination and a high index of suspicion in pediatric care. The early finding of nystagmus can be the key to a timely diagnosis of OCA2. This allows for early intervention to optimize visual development and allows for multidisciplinary management and genetic counseling for the family. This case underscores the need for ongoing education in enhancing the early detection of OCA.
Publicações recentes
Hermansky-Pudlak Syndrome Type 3 Complicated by Schizophrenia and Crohn's-Like Colitis.
Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.
Quantifying functional vision in a mouse model of oculocutaneous albinism type 1.
The impact of stigma on people with albinism in Africa: a narrative review.
Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.
📚 EuropePMC618 artigos no totalmostrando 195
Quantifying functional vision in a mouse model of oculocutaneous albinism type 1.
Scientific reportsThe impact of stigma on people with albinism in Africa: a narrative review.
Journal of community geneticsOculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.
European journal of human genetics : EJHGCommon dominant-negative spectrum of SLC45A2 mutations in OCA4 defined by endoplasmic reticulum retention.
Biochemical and biophysical research communicationsInsights from Computational Dynamic Active Site Mapping into Substrate Recognition and Mutation-Induced Dysfunction in Human Tyrosinase.
International journal of molecular sciencesA Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling.
Translational vision science & technologyCataract surgery with implantation of small aperture acrylic hydrophobic IOL to reduce photophobia in a patient affected by oculocutaneous albinism.
American journal of ophthalmology case reportsSuccessful treatment of invasive squamous cell carcinoma and diffuse actinic keratoses by sequential ALA-PDT combined with surgery in a patient with oculocutaneous albinism.
European journal of dermatology : EJDAggressive Amelanotic Melanoma in a Patient with Oculocutaneous Albinism Type 1A: A Case with Limited Response to Targeted and Immunotherapy.
Clinical and experimental dermatologySentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting.
Case reports in pediatricsFirst Report of Oculocutaneous Albinism Type I Among Baka Pygmies From Cameroon.
Pigment cell & melanoma researchGriscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications.
MedicineConcentric macular rings and OCT corrugations in foveal hypoplasia: proof of concept for an optical interference mechanism.
International journal of retina and vitreousResolving Complex Retinal Alleles via Long-Read Sequencing.
JAMA ophthalmologyGeneration and ophthalmological characterization of oculocutaneous albinism type 1 pig models by selection-free genome editing.
Scientific reportsOCA2 deficiency enhances TPC2 channel activity to reduce melanosomal pH and pigment production.
The Journal of investigative dermatologyThe prevalence of epidermal skin malignancies in people living with oculocutaneous albinism attending the Universitas Academic Hospital, Bloemfontein, South Africa.
Dermatology reportsUpdated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants.
Pigment cell & melanoma researchAmpyrone (4-Aminoantipyrine) is a Direct Agonist of Human Tyrosinase and Potential Therapeutic for Oculocutaneous Albinism and Disorders of Hypopigmentation.
bioRxiv : the preprint server for biologyAnalysis of multi-trait evolution across independently evolved cavefish populations reveals shared and independent evolution of suites of cave-associated traits.
bioRxiv : the preprint server for biologyA novel homozygous HPS4 mutation in Hermansky-Pudlak syndrome: case report and literature review.
Therapeutic advances in respiratory diseaseFatal Chronic Varicella-Zoster Viral Infection in a Young Man With Chediak-Higashi Syndrome.
Pediatric dermatologyA novel HPS3 pathogenic nonsense variant associated with Hermansky-Pudlak syndrome type 3 and a platelet dysfunction.
Molecular biology reportsGenetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.
The Journal of dermatologyRetinal Pigment Epithelium-Targeting Gene Therapy Corrects Ocular Symptoms in Mouse and Rat Models of Oculocutaneous Albinism Type I.
MedCommHermansky-Pudlak Syndrome.
Clinics in chest medicineA recessive coat color dilution in Dexter cattle attributed to a missense mutation in SLC45A2.
Animal geneticsAlterations of Photoreceptor Synaptic Ribbons in the Retina of a Human Patient With Oculocutaneous Albinism Type 1 (OCA1).
Investigative ophthalmology & visual scienceReduced gene expression and missense mutations in the transporter protein SLC45A2 in a hypopigmented Egyptian rousette fruit bat (Rousettus aegyptiacus).
The Journal of heredityIdentification of a RAB32-LRMDA-Commander membrane trafficking complex reveals the molecular mechanism of human oculocutaneous albinism type 7.
Nature communicationsTYROSINASE-Deficient Human Retinal Pigment Epithelium Exhibits Melanosome Maturation Defects.
Investigative ophthalmology & visual scienceHermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation.
Oxford medical case reportsSpontaneous mutant in threespine stickleback connects endosome trafficking disorders and inflammatory bowel diseases via changes in the gut microbiome.
bioRxiv : the preprint server for biologyFrom paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.
PLoS geneticsClinical characteristics and prognostic factors of Hermansky-Pudlak syndrome with or without pulmonary fibrosis: a systematic review.
Therapeutic advances in respiratory diseaseRare phenotypes of white coat color in Simmental calves: genetic causes of syndromic forms of albinism and depigmentation.
Molecular genetics and genomics : MGGRapid Diagnosis and Subtyping of Hermansky-Pudlak Syndrome With Flow Cytometry Analysis.
Pigment cell & melanoma researchGeneration of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8.
Stem cell researchGenetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant.
Clinical case reportsLine-Field Confocal Optical Coherence Tomography (LC-OCT) of Amelanotic Melanoma in a Patient With Oculocutaneous Albinism.
International journal of dermatologyOculocutaneous albinism in a patient with an OCA2 variant: molecular and clinical insights.
Asian biomedicine : research, reviews and newsContribution of Cytology to the Diagnosis of Chediak-Higashi Syndrome.
CureusRefractory Colitis in Hermansky-Pudlak Syndrome: A Surgical Case Report.
CureusGriscelli Syndrome: A Case Report from Pakistan, A Review of the Literature, and an Approach to Hematological Disorders Associated With Albinism.
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Protein science : a publication of the Protein SocietyKidney melanosis associated with a novel HSP-1 Hermansky-Pudlak oculocutaneous albinism mutation: a case report.
BMC nephrologyNon-melanoma skin cancer and HPV in persons with albinism: a call for research investment.
British journal of cancerGenetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.
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bioRxiv : the preprint server for biologyStrabismus and nystagmus in oculocutaneous albinism: clinical perspectives, diagnosis, and role of neurotransmitters.
NeurogeneticsDifferences in Visual Acuity Among Hermansky-Pudlak Syndrome Subtypes.
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Pigment cell & melanoma researchAmelanotic Melanoma in Oculocutaneous Albinism: Clinical Presentation and Diagnostic Pitfalls with Dermoscopic-Histopathological Correlation.
Dermatology practical & conceptualHermansky-Pudlak Syndrome: From Molecular Pathogenesis to Targeted Therapies.
IUBMB lifeA novel 5bp deletion in HPS4 gene associates with Hermansky-Pudlak Syndrome.
Ophthalmic genetics[Analysis of TYR gene variant in a patient with Oculocutaneous albinism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsCompound heterozygosity in type-II oculocutaneous albinism.
Indian journal of dermatology, venereology and leprologyClinico-pathologic profile of skin cancers in oculocutaneous albinism at Universitas Academic Hospital.
Health SA = SA GesondheidAge-related neutrophil activation in Hermansky-Pudlak Syndrome Type-1.
Orphanet journal of rare diseasesMolecular Characterization of Oculocutaneous Albinism in Consanguineous Pakistani Families: Unraveling Disease-Causing Pathogenic Variants in OCA2 and TYR Genes for Precision Diagnosis.
Biochemical geneticsPlatelet secretion defects and increased CD63 expression in Hermansky-Pudlak syndrome: a case report.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisCase Report: Genetic analysis of oculocutaneous albinism type 2 caused by a new mutation in the OCA2.
Frontiers in pediatricsTrichilemmal Carcinoma in a Patient With Oculocutaneous Albinism.
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Journal of dermatological sciencePrediction of Skin Color Using Forensic DNA Phenotyping in Asian Populations: A Focus on Thailand.
BiomoleculesMultiplexed Assays of Variant Effect and Reclassification of TYR Variants in Chinese Patients with Oculocutaneous Albinism.
The Journal of investigative dermatologyHermansky-Pudlak syndrome (HPS): a rare genetic interstitial lung disease.
BMJ case reportsChediak-Higashi Syndrome: a Comprehensive Case Report and Literature Review.
Clinical laboratoryUnusual Autosomal Dominant Inheritance of Oculocutaneous Albinism Type 4 (OCA-4): Clinical and Functional Features From A Chinese Family.
Pigment cell & melanoma researchCase report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3.
Frontiers in geneticsAlbinism research in a Southern African setting: unique findings.
Journal of community geneticsArcuate pattern of retinal ganglion cell axons in oculocutaneous albinism has implications for axon pathfinding.
BMJ case reportsHypopigmented malignant melanoma in a patient with oculocutaneous albinism type 4.
The Journal of dermatologyHermansky-Pudlak Syndrome Type 1 Presenting with Interstitial Lung Disease: A Report of a Rare Case from Saudi Arabia.
The American journal of case reportsMolecular insights into genodermatoses: Genetic findings from 43 patients.
Archives of dermatological researchScreening of Clinical Data of Patients with Abnormal Head Posture and Investigation of Abnormal Head Posture Change After Treatment.
Turkish journal of ophthalmologySynonymous but Significant: New Findings of Pathological Variants in Hermansky-Pudlak Syndrome.
Pigment cell & melanoma researchManagement of an advanced case of basal cell carcinoma in a patient with albinism: Considerations for working in low- and middle-income countries.
JAAD case reportsChiasmal Decussation in Oculo-Cutaneous Albinism Type 8.
Investigative ophthalmology & visual scienceA Recessive oca2 Mutation Underlies Albinism in Xiphophorus fish.
bioRxiv : the preprint server for biologyAdvancing Insights into Pediatric Macular Diseases: A Comprehensive Review.
Journal of clinical medicineHuman recombinant tyrosinase destabilization caused by the double mutation R217Q/R402Q.
Protein science : a publication of the Protein SocietyGriscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase.
The Turkish journal of pediatricsRole of Morphology in the Diagnosis of an Unsuspected Case of Chediak-Higashi Syndrome: A Case Report.
CureusEfficient genome editing in medaka (Oryzias latipes) using a codon-optimized SaCas9 system.
Journal of Zhejiang University. Science. BGenotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature.
Journal of medical case reportsSyndromic Association of Depigmentation With Congenital Hearing Loss: A Review of Three Children With Auditory Pigmentary Disorders.
Ear, nose, & throat journalCuration of OCA2 Variants of Uncertain Significance From Chinese Oculocutaneous Albinism Patients Based on Multiplex Assays.
Pigment cell & melanoma researchChedíak-Higashi Syndrome: Hair-to-toe spectrum.
Seminars in pediatric neurologyApplication of Forced Oscillation Technique in Assessing Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.
Advances in respiratory medicineAncestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia.
PloS oneA 65 kilobase deletion of the upstream TYR gene region in a family with oculocutaneous albinism type 1.
GeneGranulomatous Colitis Due to Hermansky-Pudlak Syndrome.
ACG case reports journalEarly diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyCommon Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.
BiomedicinesModulating OCA2 Expression as a Promising Approach to Enhance Skin Brightness and Reduce Dark Spots.
BiomoleculesAcute Angle Closure Glaucoma Attack in a Patient With Hermansky-Pudlak Syndrome: A Case Report.
CureusAlbinism and Blood Cell Profile: The Peculiar Case of Asinara Donkeys.
Animals : an open access journal from MDPITyrp1 is the mendelian determinant of the Axolotl (Ambystoma mexicanum) copper mutant.
Scientific reportsBiallelic TYR and TKFC variants in Egyptian patients with OCA1 and new expanded TKFC features.
BMC genomicsThe degradation of TYR variants derived from Chinese OCA families is mediated by the ERAD and ERLAD pathway.
GeneAltered Functional Responses of the Retina in B6 Albino Tyrc/c Mice.
Investigative ophthalmology & visual scienceA novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9).
BMC genomicsHermansky-Pudlak Syndrome Type 2: A Case Report on an Ultra-Rare Disorder.
CureusHermansky-Pudlak Syndrome: A Rare Congenital Disorder With Interstitial Lung Disease.
CureusMutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families.
BMC ophthalmologyA case of metastasis of giant basal cell carcinoma in oculocutaneous albinism.
The Journal of dermatologyIdentifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India.
Molecular biology reportsAfter an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.
Molecular genetics & genomic medicineGenetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report.
International journal of molecular sciencesFunctional analysis of two mutation sites in the OCA2 gene.
Scientific reportsGenetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population.
Clinica chimica acta; international journal of clinical chemistryNystagmus and Foveal Hypoplasia in a Carrier of Oculocutaneous Albinism.
Ophthalmic surgery, lasers & imaging retinaSuccessful treatment of retinopathy of prematurity in oculocutaneous albinism with OCA2 variants: a case report and review of literature.
BMC pediatricsTwo-pore channel 2 is required for soluble adenylyl cyclase-dependent regulation of melanosomal pH and melanin synthesis.
Pigment cell & melanoma researchA patient with albinism and retinitis pigmentosa, a case report.
American journal of ophthalmology case reportsGenotypic spectrum of albinism in Mali.
Pigment cell & melanoma researchHermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone.
Internal medicine (Tokyo, Japan)[Correlation between refraction and axial length in Albinos].
Journal francais d'ophtalmologieCataract surgery and artificial iris implantation in patient with oculocutaneous albinism: a case report.
Arquivos brasileiros de oftalmologiaClinical and mutational characteristics of oculocutaneous albinism type 7.
Scientific reportsRuns of Homozygosity Detection and Selection Signature Analysis for Local Goat Breeds in Yunnan, China.
GenesSodium fluorescein dye as an adjunct in vitrectomy for rhegmatogenous retinal detachment in oculocutaneous albinism.
Oman journal of ophthalmologyGenetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF.
Pigment cell & melanoma researchAmelanotic melanoma in oculocutaneous albinism type 4 detected using violet-light dermoscopy.
The Journal of dermatologyUnsuccessful transscleral cyclophotocoagulation in oculocutaneous albinism.
American journal of ophthalmology case reportsIdentification of Candidate Genes for Red-Eyed (Albinism) Domestic Guppies Using Genomic and Transcriptomic Analyses.
International journal of molecular sciences[A case for the inclusion of oculocutaneous albinism as a skin-related Neglected Tropical Disease].
Medecine tropicale et sante internationaleOculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case.
Molecular genetics & genomic medicineGenetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.
HereditasGeneration and characterization of retinal pigment epithelium from patient iPSC line to model oculocutaneous albinism (OCA)1A disease.
Journal of biosciencesSegmental hypopigmentation and unilateral fibrous patches: an unusual presentation of tuberous sclerosis complex with a novel TSC2 mutation.
International journal of dermatologyVisual acuity improvement in children with albinism beyond the first decade of life.
PloS oneIntegrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans.
Nature geneticsTYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations.
Experimental eye researchDoes Foveal Hypoplasia Affect Emmetropization in Patients with Albinism?
Children (Basel, Switzerland)Genetic landscape of forensic DNA phenotyping markers among Mediterranean populations.
Forensic science internationalIntegrated sun protection advice for the South African population.
International journal of dermatologyClusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge.
Genetics and molecular biologyManagement of Severe Neutropenia in a Child With Chediak-Higashi Syndrome Using Granulocyte-Colony Stimulating Factor (G-CSF): A Case Report.
CureusUnraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants.
Ophthalmic geneticsNovel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants.
Ophthalmic researchReduction of lens size in PAX6-related aniridia.
Experimental eye researchThe molecular landscape of oculocutaneous albinism in India and its therapeutic implications.
European journal of human genetics : EJHGComparative transcriptome analysis reveals growth and molecular pathway of body color regulation in turbot (Scophthalmus maximus) exposed to different light spectrum.
Comparative biochemistry and physiology. Part D, Genomics & proteomicsDaylight photodynamic therapy as a treatment for actinic field change in patients diagnosed with oculocutaneous albinism in sub-Saharan Africa.
Clinical and experimental dermatologyThe Impact of WhatsApp as a Health Education Tool in Albinism: Interventional Study.
JMIR dermatologyUnveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.
GeneHermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease.
Cureus[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 geneticsNovel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Molecular genetics & genomic medicineGenetic and dermoscopic findings in a case series of children with oculocutaneous albinism.
Pediatric dermatologyUltra-widefield fundus image of an oculocutaneous albinism patient with rhegmatogenous retinal detachment.
Journal francais d'ophtalmologieOculocutaneous albinism in a Puerto Rican patient.
JAAD case reportsFoveal Hypoplasia in a Child With Tyrosinase-Positive Albinism.
CureusSpectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
Journal of medical geneticsPeriocular hypopigmentation of the elderly (POHE): A case series.
Journal of the European Academy of Dermatology and Venereology : JEADVStacked implantation of two prosthetic iris devices for patients with iris defects: A modified surgical technique.
American journal of ophthalmology case reportsOphthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.
Investigative ophthalmology & visual scienceEvaluating the Cysteine-Rich and Catalytic Subdomains of Human Tyrosinase and OCA1-Related Mutants Using 1 μs Molecular Dynamics Simulation.
International journal of molecular sciencesVision-Related Quality of Life in Danish Patients with Albinism and the Impact of an Updated Optical Rehabilitation.
Journal of clinical medicineUnsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
Pigment cell & melanoma researchForensic DNA Phenotyping: Genes and Genetic Variants for Eye Color Prediction.
GenesBlack Piedra in an Amerindian Girl with Oculocutaneous Albinism Type 2.
Dermatology practical & conceptualImpaired Direction Selectivity in the Nucleus of the Optic Tract of Albino Mice.
Investigative ophthalmology & visual scienceGenetic variants in melanogenesis proteins TYRP1 and TYR are associated with the golden rhesus macaque phenotype.
G3 (Bethesda, Md.)Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism.
Alternative therapies in health and medicineDetermining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review.
Investigative ophthalmology & visual scienceStructural insights into pink-eyed dilution protein (Oca2).
Bioscience reportsIdentification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1.
Pigment cell & melanoma researchRecent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan.
The Keio journal of medicineTilted disc in eyes with fovea plana.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieHaplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.
American journal of human geneticsFOVEA PLANA AND FUNDUS HYPOPIGMENTATION IN PRADER-WILLI SYNDROME.
Retinal cases & brief reportsChediak-Higashi syndrome.
Current opinion in hematologyA review of treatment of port-wine stains with pulsed dye laser in fitzpatrick skin type IV-VI.
Archives of dermatological researchAnnular Erythematous Plaques With Central Hypopigmentation on Sun-Exposed Skin.
CutisEvolving red papule in a patient with oculocutaneous albinism.
Pediatric dermatologyHermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression.
European journal of medical geneticsOculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective.
European journal of pediatricsAssociation between Variants in the OCA2-HERC2 Region and Blue Eye Colour in HERC2 rs12913832 AA and AG Individuals.
GenesLow-vision intervention for oculocutaneous albinism in a Tertiary Eye Care Hospital in India.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietycDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
Frontiers in geneticsIdentification of novel variations of oculocutaneous albinism type 2 with Prader-Willi syndrome/Angelman syndrome in two Chinese families.
Frontiers in geneticsAbstracts from the 2022 European Association for Vision and Eye Research Festival, 13-15 October 2022, Valencia.
Acta ophthalmologica[Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature review].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesReport of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.
GenesDiagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population.
GenesIn Vitro Reconstitution of the Melanin Pathway's Catalytic Activities Using Tyrosinase Nanoparticles.
International journal of molecular sciencesOculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
GenesA homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
Human geneticsAssociações
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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.
- Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.
- Insights from Computational Dynamic Active Site Mapping into Substrate Recognition and Mutation-Induced Dysfunction in Human Tyrosinase.
- A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling.
- Correction of Abnormal Head Position in Pediatric Nystagmus Using Yoked Low-Value Prism Glasses: A Retrospective Study.
- Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting.
- Hermansky-Pudlak Syndrome Type 3 Complicated by Schizophrenia and Crohn's-Like Colitis.
- Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.
- Quantifying functional vision in a mouse model of oculocutaneous albinism type 1.
- The impact of stigma on people with albinism in Africa: a narrative review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:55(Orphanet)
- MONDO:0018910(MONDO)
- GARD:10958(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q2017741(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
