SR143

AD Retinitis Pigmentosa (IA1aii)

Male

Male

SR143

AD Retinitis Pigmentosa (IA1aii)

Male

Male

Highlighted Images

Age at visit: 42 years
OD OS

Pedigree

Age at visit: 42 years
Age at visit: 43 years
Age at visit: 45 years
Age at visit: 50 years
Age at visit: 54 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa RHO Leu59His CTC>CAC   AD
Gene:
Allele 1:
Leu59His CTC>CAC
Allele 2:
 
Inheritance:
AD
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