This 48 year old woman began wearing hearing aids at age 6. As a young child, her best corrected visual acuity was completely normal. She had no difficulties with her vision until her late 20's when she began having some difficulties in dim light and some reduction of her peripheral vision.
Refraction OD: | +0.75 +1.00 x 36 (pseudophakic) |
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Refraction OS: | 0.25 +1.00 x 142 (pseudophakic) |
The clinical features supporting the diagnosis of type 2 Usher syndrome in this patient include: childhood onset hearing loss correctable with hearing aids; night blindness and constricted visual fields as her earliest visual symptoms; bone-spicule-like pigmentation and narrowed arterioles on fundus examination; loss of outer retinal structures on OCT; and, normally sighted parents.
Age at visit: 48 years |
Age at visit: 49 years |
Age at visit: 50 years |
Age at visit: 53 years |
Age at visit: 55 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Type 2 Usher Syndrome | USH2A | Asn346His AAT>CAT | Gly1734Cys GGT>TGT | AR |