SR1892

AD Retinitis Pigmentosa (IA1aii)

Male

Male

SR1892

AD Retinitis Pigmentosa (IA1aii)

Male

Male

Highlighted Images

Age at visit: 45 years
OD OS

History

This 45 year old man first noticed some blurry vision in his left eye 3 years ago. He and a brother, sister, father and paternal uncle who are affected with muscular dystrophy.

Pedigree

Age at visit: 45 years
Age at visit: 47 years
Age at visit: 49 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa RHO Asp190Asn GAC>AAC   AD
Gene:
Allele 1:
Asp190Asn GAC>AAC
Allele 2:
 
Inheritance:
AD
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