SR1665

AR Retinitis Pigmentosa (IA1aiii)

Female

Female

SR1665

AR Retinitis Pigmentosa (IA1aiii)

Female

Female

Highlighted Images

Age at visit: 39 years
OD OS

Pedigree

Age at visit: 39 years
Age at visit: 51 years
Age at visit: 53 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Retinitis Pigmentosa USH2A Cys759Phe TGC>TTC Cys759Phe TGC>TTC / Pro2870Leu CCA>CTA AR
Gene:
Allele 1:
Cys759Phe TGC>TTC
Allele 2:
Cys759Phe TGC>TTC / Pro2870Leu CCA>CTA
Inheritance:
AR
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