Case
SR1984
Student Mode
Norrie Disease (IIIE2a)
Male
Male
Hidden
SR1984
Student Mode
Norrie Disease (IIIE2a)
Male
Male
Highlighted Images
| OD | |
|---|---|
| Age at visit: 32 years | |
History
This 32 year old man had a vitrectomy in his left eye at age 13 which was unsuccessful at repairing his retinal detachment.
Pedigree
| Age at visit: 32 years |
| OD | |||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Norrie Disease | NDP | Gly112Glu GGG>GAG | XL |