College of Medicine | Department of Ophthalmology and Vision Science
Foveal Hypoplasia
Clinical Characteristics
Ocular Features
This is a poorly defined syndrome with features overlapping aniridia, hereditary keratitis, ocular albinism, and iris anomalies as in Peters anomaly. However, presenile cataracts seem to be unique to this disorder. The foveal hypoplasia may occur without other anomalies although the fundus is usually lightly pigmented. As expected, acuity is subnormal from birth, in the range of 20/50, and dyschromatopsia may be present. Some patients have nystagmus. Weak iris transillumination has been reported and a small limbal pannus may be present. Lens opacities may become visually significant in the third to fourth decade of life. OCT has shown abnormal foveal thickness with multiple inner retinal layers somewhat similar to the situation in oculocutaneous albinism (203100) and it has been suggested that 'foveal dysplasia' is a better description than 'foveal hypoplasia'.
Systemic Features
No systemic disease is present.
Genetics
This disorder is associated with mutations in the PAX6 gene (11p13) and inherited as an autosomal dominant.
Treatment Options
Cataract surgery is indicated when lens opacities become visually significant.
References
Recchia FM, Carvalho-Recchia CA, Trese MT. Optical coherence tomography in the diagnosis of foveal hypoplasia. Arch Ophthalmol. 2002 Nov;120(11):1587-8.
PubMed ID:
12427081 Azuma N, Nishina S, Yanagisawa H, Okuyama T, Yamada M. PAX6 missense mutation in isolated foveal hypoplasia. Nat Genet. 1996 Jun;13(2):141-2.
PubMed ID:
8640214 O'Donnell FE Jr, Pappas HR. Autosomal dominant foveal hypoplasia and presenile cataracts. A new syndrome. Arch Ophthalmol. 1982 Feb;100(2):279-81.
PubMed ID:
7065945 
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