Case
SR121
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR121
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Highlighted Images
| Age at visit: 37 years | OD | OS |
|---|---|
History
This 37 year old man has had poor night vision his entire life. At age 7 he visited a cave with his family and could not see anything and cried the entire time, even though his brothers could see fine.
Pedigree
| Age at visit: 32 years |
| Age at visit: 37 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 39 years |
| Age at visit: 41 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | CNGB1 | Gly847 ins1atcG | Asn986Ile AAC>ATC | AR |
Disease:
Gene:
Allele 1:
Gly847 ins1atcG
Allele 2:
Asn986Ile AAC>ATC
Inheritance:
AR