Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Aniridia ptosis intellectual deficit familial obesity
Introduction
Synonyms and keywords: Aniridia – ptosis – mental retardation – obesity familial type complex
Overview
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.
Pathophysiology
Pathophysiology
Genetics
Autosomal Dominant inheritance
Epidemiology and Demographics
Epidemiology and Demographics
The prevalence is <1 in 1,000,000.
References
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S