SR166
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
SR166
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
History
This 56 year old man first noticed some constriction of his peripheral vision at age 21. His sister became completely blind before age 30. This patient was started on vitamin A therapy, which he used for 20 years and believed it really helped. 56 2015
Pedigree
| Age at visit: 56 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | DHDDS | Lys42Glu AAG>GAG | Lys42Glu AAG>GAG | AR |
Disease:
Gene:
Allele 1:
Lys42Glu AAG>GAG
Allele 2:
Lys42Glu AAG>GAG
Inheritance:
AR