Log in Register Terms of Use
Join Teaching Session Search
StoneRounds Disease Atlas SR1063

SR1063

Grid View Download View

AD Retinitis Pigmentosa (IA1aii)

Male

Male

SR1063

Grid View Download View

AD Retinitis Pigmentosa (IA1aii)

Male

Male

Highlighted Images

Age at visit: 26 years
OD OS
20/25 -2
20/25 -1

Pedigree

Age at visit: 26 years
Age at visit: 28 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa PRPF31 IVS5-1G>A   AD
Disease:
AD Retinitis Pigmentosa
Gene:
PRPF31
Allele 1:
IVS5-1G>A
Allele 2:
 
Inheritance:
AD
Cite this case