Age at visit: 53 years | |
OD | OS |
---|---|
This 53 year old woman has had poorer night vision than her friends for her entire life. At age 15, her worsening night vision caused her to seek medical attention.
The clinical features supporting the diagnosis of autosomal dominant retinitis pigmentosa in this patient include: adult onset; night blindness as her earliest symptom; bone-spicule-like pigmentation and narrowed arterioles on fundus examination; progressive visual field constriction; loss of outer retinal structures on OCT; and, several affected relatives in three different generations with clear male to male transmission.
Age at visit: 49 years |
Age at visit: 51 years |
Age at visit: 53 years |
Age at visit: 54 years |
Age at visit: 56 years |
OD | OS | ||
---|---|---|---|
OD | OS | ||
---|---|---|---|
Age at visit: 57 years |
OS | |||
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Age at visit: 57 years (Visit 2) |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
AD Retinitis Pigmentosa | RHO | Pro347Ala CCG>GCG | AD |