Dome-shaped macula in oculocutaneous albinism
نویسندگان
چکیده
منابع مشابه
Oculocutaneous albinism
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A b...
متن کاملType 1 neovascularization with polypoidal lesions complicating dome shaped macula
Dome-shaped macula is described as an inward bulge of the macula within a posterior staphyloma in highly myopic eyes. Choroidal neovascularization is a known complication that can cause visual loss in dome-shaped macula. Herein, we describe a patient who presented with features of polypoidal choroidal neovascularization that developed on a background of high myopia with dome-shaped macula.
متن کاملOculocutaneous albinism type 2
Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular, and pilar pigmentation from the time of birth. Oculocutaneous albinism types I and II are the most common, with several other types described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous ...
متن کاملDistribution of oculocutaneous albinism in Zimbabwe.
A survey of 1.3 million schoolchildren in Zimbabwe identified a total of 278 pupils with oculocutaneous albinism (OCA), giving a prevalence of 1 in 4728. Pupils with OCA were identified in every province of the country, but the distribution was not even. In certain areas, notably the capital, Harare, and the eastern province of Manicaland, the frequency was significantly higher than in others. ...
متن کاملMacular Bruch’s membrane defect and dome-shaped macula in high myopia
PURPOSE To examine an association between macular Bruch's membrane defects (MBMD) and a dome-shaped appearance of the macula (DSM). DESIGN Retrospective, observational case series study. METHODS The study included highly myopic individuals who were consecutively examined between May 2014 and December 2015. The patients underwent swept-source optical coherence tomography (OCT) for visualizat...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2016
ISSN: 1757-790X
DOI: 10.1136/bcr-2016-215368