Case
SR2603
Student Mode
Foveal Hypoplasia (IIIG)
Male
Male
Hidden
SR2603
Student Mode
Foveal Hypoplasia (IIIG)
Male
Male
History
This 22 year old male had nystagmus noted shortly after birth. The pupillary sphincter of both irides is hypoplastic.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Foveal Hypoplasia | PAX6 | Pro76Leu CCG>CTG | AD |