Case
SR118
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR118
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
History
This 32 year old woman has worn glasses since age 3 and first had difficulty seeing at night as a child. Her current glasses prescription is +15.00 OU.
Pedigree
| Age at visit: 32 years |
| Age at visit: 33 years |
| Age at visit: 34 years |
| Age at visit: 36 years |
| Age at visit: 37 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | MFRP | Tyr164 ins1taC | Tyr164 del1taC | AR |
Disease:
Gene:
Allele 1:
Tyr164 ins1taC
Allele 2:
Tyr164 del1taC
Inheritance:
AR