Case
SR1070
Student Mode
Foveal Hypoplasia (IIIG)
Female
Female
Hidden
SR1070
Student Mode
Foveal Hypoplasia (IIIG)
Female
Female
History
This 31 year old woman has had nystagmus and stable but reduced acuity her whole life.
| Color Vision: | Correctly identified 14/14 Ishihara pseudoisochromatic plates OU. |
|---|---|
| Refraction OD: | -13.50 +0.50 x 175 |
| Refraction OS: | -13.25 +0.50 x 005 |
Pedigree
Teaching Points
The clinical features favoring the diagnosis of PAX6-associated isolated foveal hypoplasia include: nystagmus noted shortly after birth; stable reduced acuity her whole life; brown hair and irides; and, the absence of a foveal depression on OCT.
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Foveal Hypoplasia | PAX6 | Val126Asp GTT>GAT | AD |