SR1006

AR Retinitis Pigmentosa (IA1aiii)

Female

Female

SR1006

AR Retinitis Pigmentosa (IA1aiii)

Female

Female

Highlighted Images

Age at visit: 43 years
OD OS

History

This 43 year old woman has had poor peripheral vision and poor night vision since childhood. She recalls sometimes having to back-up to find something she dropped on the floor. She first came to ophthalmologic attention at age 10 when there was concern for cataract formation associated with high doses of oral steroids she was receiving for asthma.

Pedigree

Age at visit: 43 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Retinitis Pigmentosa TMEM216 -69u G>T -69u G>T AR
Gene:
Allele 1:
-69u G>T
Allele 2:
-69u G>T
Inheritance:
AR
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