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. |
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Refraction OD: | -13.50 +0.50 x 175 |
Refraction OS: | -13.25 +0.50 x 005 |
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.
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
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Foveal Hypoplasia | PAX6 | Val126Asp GTT>GAT | AD |