SR1377
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
SR1377
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
Visit at age: 69 years
Fundus Photography - Right - unknown
Exemplar
Fundus Photography - Left - unknown
Exemplar
Visit at age: 77 years
Fundus Photography - Right - 20/200
Exemplar
Fundus Photography - Left - 20/300
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Cone and Cone Rod Dystrophy | RPGR | Glu1031 del2gaGG | XL |
Disease:
Gene:
Allele 1:
Glu1031 del2gaGG
Allele 2:
Inheritance:
XL