Orphanet: Ocular albinism with late onset sensorineural deafness

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Ocular albinism with late-onset sensorineural deafness

Disease definition

Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.

ORPHA:1000

Classification level: Disorder

Synonym(s):
- Ocular albinism with late-onset sensorineural hearing loss
Prevalence: <1 / 1 000 000
Inheritance: X-linked recessive
Age of onset: Adult
ICD-10: E70.3
OMIM: 300650
UMLS: C1845069
MeSH: C537043
GARD: 592
MedDRA: -

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Ocular albinism with late-onset sensorineural deafness

ORPHA:1000

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