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Hearing Loss, SensorineuralDeafnessAlbinismAlbinism, OculocutaneousHypoparathyroidismSyndromePedigreeHearing Loss, BilateralBulbar Palsy, ProgressiveJervell-Lange Nielsen SyndromeAtaxiaGenes, RecessiveEar, InnerHearing LossAbnormalities, MultipleCochleaConsanguinityVestibular DiseasesNephritis, HereditaryAnemia, MegaloblasticHearing Loss, SuddenWaardenburg SyndromeMutationConnexinsMonophenol MonooxygenaseGenetic LinkageAudiometry, Pure-TonePhenotypeMutation, MissenseGenes, DominantAudiometryHermanski-Pudlak SyndromeDNA Mutational AnalysisIntellectual DisabilityChromosome MappingThiamineEvoked Potentials, Auditory, Brain StemNystagmus, PathologicLod ScoreChromosomes, Human, Pair 1Membrane Transport ProteinsHearing TestsHypopigmentationFolkloreHeterozygoteMelanosomesAuditory ThresholdDNA, MitochondrialHearing Loss, UnilateralHearing Loss, ConductiveLabyrinth DiseasesSpiral GanglionNystagmus, CongenitalCochlear NerveGenetic MarkersMolecular Sequence DataVestibular AqueductHearingTemporal BoneEyeHearing AidsOcular HypertensionBase SequenceHair Cells, AuditoryInfant, NewbornHearing Loss, High-FrequencyElectronystagmographyEye ColorCochlear ImplantsCochlear ImplantationHearing DisordersOrgan of CortiMelanocytesPigmentation DisordersStria VascularisPigmentationHearing Loss, CentralRound Window, EarIchthyosisAlbinism, OcularMelaninsPiebaldismToxoplasmosis, OcularTinnitusOtosclerosisUsher SyndromesHomozygoteCochlear DuctBone ConductionOtoacoustic Emissions, SpontaneousMeniere DiseasePresbycusisAudiometry, Evoked ResponseEvoked Potentials, VisualEye ProteinsHair ColorSpeech PerceptionWolfram SyndromePhotophobiaSkin Pigmentation

Onset sensorineural deafnessOculocutaneousPhenotypeSyndromeAutosomal recessiveCongenital60,000 malesAffects the eyesFindingsNystagmusAbnormalitiesMutationsGeneHeterochromiaInvolvementTypeHearing lossHairEyesForms

Onset sensorineural deafness2

• Ocular albinism late onset sensorineural deafness (OASD) is a rare, X-linked recessive disease characterized by intense visual impairments, reduced retinal pigments, translucent pale-blue irises and moderately severe hearing loss from adolescence to middle-age. (wikipedia.org)
• Patients with OA1 may have late-onset sensorineural deafness. (msdmanuals.com)

Oculocutaneous3

• Oculocutaneous albinism is an inherited defect in melanin formation that causes diffuse hypopigmentation of the skin, hair, and eyes. (msdmanuals.com)
• Diagnosis of oculocutaneous albinism is usually obvious from the skin examination, but ocular evaluation is necessary. (msdmanuals.com)
• Oculocutaneous albinism (OCA) is a group of rare inherited disorders in which a normal number of melanocytes are present but melanin production is absent or greatly decreased. (msdmanuals.com)

Phenotype2

• Mutations in GNA13 (17q24.1), activated by OA1, have also been reported to cause the ocular albinism phenotype. (wikipedia.org)
• OBJECTIVE OR PURPOSE: We aimed to characterize the ocular phenotype of patients with ROSAH (Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis, and Headache) syndrome and their response to therapy. (bvsalud.org)

Syndrome4

• Waardenburg syndrome type I (WS1) is an auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin along with dystopia canthorum (lateral displacement of the inner canthi). (nih.gov)
• Waardenburg syndrome is a rare disease characterized by deafness in association with pigmentary anomalies and defects of neural crest-derived tissues. (medscape.com)
• The frequency of Waardenburg syndrome is estimated to be 1 case per 212,000 persons in the general population of the Netherlands, but owing to a low penetrance of about 20%, the frequency of the entire syndrome (with or without deafness) is probably approximately 1 case per 42,000 persons. (medscape.com)
• CONCLUSIONS: Leveraging insights from the largest single center ROSAH cohort described to date, this study identifies three main factors as contributing to changes in visual function of patients with ROSAH syndrome: optic nerve involvement, intra-ocular inflammation including cystoid macular edema, and retinal degeneration. (bvsalud.org)

Autosomal recessive1

• Autosomal inheritance, on the other hand, includes OCA3 (autosomal recessive OA) and OA with sensorineural deafness. (wikipedia.org)

Congenital2

• The deafness was sensorineural and congenital. (symptoma.com)
• The hearing loss in WS1, observed in approximately 60% of affected individuals, is congenital, typically non-progressive, either unilateral or bilateral, and sensorineural. (nih.gov)

60,000 males2

• OA1 is the most common form of ocular albinism, affecting at least 1/60,000 males. (wikipedia.org)
• The most common form of this disorder, ocular albinism type 1, affects at least 1 in 60,000 males. (medlineplus.gov)

Affects the eyes2

• Ocular albinism is a genetic condition that primarily affects the eyes. (medlineplus.gov)
• Ocular albinism affects the eyes and usually not the skin. (msdmanuals.com)

Findings2

• Findings in ocular involvement include abnormal optic tract development manifested by foveal hypoplasia with decreased photoreceptors and misrouting of optic chiasmal fibers. (msdmanuals.com)
• Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. (beds.ac.uk)

Nystagmus1

• Ocular involvement causes strabismus, nystagmus, and decreased vision. (msdmanuals.com)

Abnormalities3

• Researchers have ambiguous interpretations on how these macromelanosomes have correlation to vision loss and other eye abnormalities in patients suffering ocular albinism. (wikipedia.org)
• Researchers are uncertain how these giant melanosomes are related to vision loss and other eye abnormalities in people with ocular albinism. (medlineplus.gov)
• In 1947, Klein reported a case of a 10-year-old girl with deafmutism, partial albinism of the skin and hair, hypochromia iridis, blepharophimosis with hypertelorism and absence of the nasofrontal angle, hypertrichosis of the eyebrows, and multiple associated abnormalities (myo-osteo-articulare dysplasia). (medscape.com)

Mutations2

• Ocular albinism type 1 results from mutations in the GPR143 gene. (medlineplus.gov)
• Rare cases of ocular albinism are not caused by mutations in the GPR143 gene. (medlineplus.gov)

Gene3

• Due to the presence of several forms of X-linked hearing loss, the gene responsible for sensorineural deafness could also map to the same region. (wikipedia.org)
• In males (who have only one X chromosome), one altered copy of the GPR143 gene in each cell is sufficient to cause the characteristic features of ocular albinism. (medlineplus.gov)
• Cortese K, Giordano F, Surace EM, Venturi C, Ballabio A, Tacchetti C, Marigo V. The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. (medlineplus.gov)

Heterochromia1

• Hammerschlag, in 1907, and Urbantschitsch, in 1910, both mentioned heterochromia iridium and partial albinism as occurring as complications of deafmutism. (medscape.com)

Involvement1

• Cutaneous and ocular pathologies (ocular involvement) are both present. (msdmanuals.com)

Type3

• It is a subtype of Ocular Albinism (OA) that is linked to Ocular albinism type I (OA1). (wikipedia.org)
• The most common form of ocular albinism is known as the Nettleship-Falls type or type 1. (medlineplus.gov)
• Ocular albinism type 1 is inherited in an X-linked pattern. (medlineplus.gov)

Hearing loss1

• Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss. (medlineplus.gov)

Hair1

• Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. (medlineplus.gov)

Eyes1

• Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). (medlineplus.gov)

Forms1

• and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by Read and Newton, 1997 and Pingault et al. (nih.gov)