Case
SR64
Student Mode
Norrie Disease (IIIE2a)
Male
Male
Hidden
SR64
Student Mode
Norrie Disease (IIIE2a)
Male
Male
Highlighted Images
| Age at visit: 15 years | OD | OS |
|---|---|
History
This 16 year old male had an untreatable retinal detachment discovered in his right eye at age 3. A year later he developed a retinal detachment in his left eye which was successfully repaired with a combination vitrectomy and scleral buckle. The visual acuity gradually improved to 20/30 following surgery.
Pedigree
| Age at visit: 35 months |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 4 years |
| Age at visit: 4 years (Visit 2) |
| OS | |||
|---|---|---|---|
| Age at visit: 19 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Norrie Disease | NDP | Gly112Glu GGG>GAG | XL |