Case
SR682
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR682
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
History
This 15 year old male was 7 weeks premature and spent 3 weeks in the hospital. He had 3 diopters of anisometropia at age 3. He was correctable to 20/30 OU at age 5. He manifested some difficulty seeing in dim light when he was 9 years old.
Pedigree
| Age at visit: 19 years |
| Age at visit: 22 years |
| Age at visit: 26 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RPGR | Gly893 del2gaaGG | XL |