Case
SR1984
Student Mode
Norrie Disease (IIIE2a)
Male
Male
Hidden
SR1984
Student Mode
Norrie Disease (IIIE2a)
Male
Male
Visit at age: 32 years
Fundus Photography - Right - 20/30 +2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Norrie Disease | NDP | Gly112Glu GGG>GAG | XL |