SR631

AD Retinitis Pigmentosa (IA1aii)

Female

Female

SR631

AD Retinitis Pigmentosa (IA1aii)

Female

Female

Highlighted Images

Age at visit: 40 years
OD OS

Pedigree

Age at visit: 29 years
Age at visit: 30 years
Age at visit: 32 years
Age at visit: 33 years
Age at visit: 40 years
Age at visit: 42 years
Age at visit: 43 years
Age at visit: 43 years (Visit 2)
Age at visit: 44 years
Age at visit: 45 years
Age at visit: 46 years
Age at visit: 46 years (Visit 2)
Age at visit: 46 years (Visit 3)
Age at visit: 46 years (Visit 4)
Age at visit: 47 years
Age at visit: 47 years (Visit 2)
Age at visit: 50 years
Age at visit: 51 years
Age at visit: 53 years
Age at visit: 56 years
Age at visit: 58 years
Age at visit: 58 years (Visit 2)

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa PRPF3 Thr494Met ACG>ATG   AD
Gene:
Allele 1:
Thr494Met ACG>ATG
Allele 2:
 
Inheritance:
AD
Cite this case