Case
SR1892
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Male
Male
Hidden
SR1892
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Male
Male
History
This 45 year old man first noticed some blurry vision in his left eye 3 years ago. He and a brother, sister, father and paternal uncle who are affected with muscular dystrophy.
Pedigree
| Age at visit: 45 years |
| Age at visit: 47 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Retinitis Pigmentosa | RHO | Asp190Asn GAC>AAC | AD |