Case
SR1061
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR1061
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Pedigree
| Age at visit: 18 years |
| OD | |||
|---|---|---|---|
| Age at visit: 42 years |
| Age at visit: 43 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | EYS | IVS35-1G>C | Deletion Exon 32 | AR |
Disease:
Gene:
Allele 1:
IVS35-1G>C
Allele 2:
Deletion Exon 32
Inheritance:
AR