SR1070

Foveal Hypoplasia (IIIG)

Female

Female

SR1070

Foveal Hypoplasia (IIIG)

Female

Female

Highlighted Images

Age at visit: 31 years
OD OS

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.

Age at visit: 31 years
Age at visit: 41 years
*Acuities for this visit are inferred from other visits in this case.

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Foveal Hypoplasia PAX6 Val126Asp GTT>GAT   AD
Gene:
Allele 1:
Val126Asp GTT>GAT
Allele 2:
 
Inheritance:
AD
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