Aniridia ptosis intellectual deficit familial obesity

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S

Synonyms and keywords: Aniridia - ptosis - mental retardation - obesity familial type complex

Overview

The association of ocular abnormalities including partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, and foveal hypoplasia was reported only once, in a woman and her two children. All three family members had a visual acuity of 20/200. Several systemic abnormalities also were noted, including obesity and mental retardation in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. Family history indicated that the children's maternal grandmother also had similar ocular findings. This constellation of findings probably represents a rare, apparently dominant, variant of aniridia.

Epidemiology and Demographics

The prevalence is <1 in 1,000,000.

Pathophysiology

Genetics

Autosomal Dominant inheritance