ocular albinism with late-onset sensorineural deafness
Findings
No curated finding names ocular albinism with late-onset sensorineural deafness yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.
Definition from the Mondo Disease Ontology (MONDO:0010390), read 2026-09-29. CC BY 4.0.
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- Ocular albinismHPOHP:0001107
- Very frequent (80% to 99% of cases)
- PhotophobiaHPOHP:0000613
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
Where it sits
- A kind of