SR207

AD Retinitis Pigmentosa (IA1aii)

Male

Male

SR207

AD Retinitis Pigmentosa (IA1aii)

Male

Male

Highlighted Images

Age at visit: 58 years
OD OS

History

This 58 year old completely asymptomatic man had pigmentary changes on his last retinal exam.

Pedigree

Age at visit: 58 years
Age at visit: 61 years
Age at visit: 63 years
Age at visit: 66 years
Age at visit: 68 years
Age at visit: 72 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa RHO Gly3Asp GGC>GAC   AD
Gene:
Allele 1:
Gly3Asp GGC>GAC
Allele 2:
 
Inheritance:
AD
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