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Schnyder corneal dystrophy in a Saudi Arabian family with heterozygous UBIAD1 mutation (p.L121F)

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Author(s): Al-Ghadeer Huda | Mohamed Jawahir | Khan Arif

Journal: Middle East African Journal of Ophthalmology
ISSN 0974-9233

Volume: 18;
Issue: 1;
Start page: 61;
Date: 2011;
Original page

Keywords: Cholesterol | Saudi Arabia | Schnyder Corneal Dystrophy | UBIAD1

ABSTRACT
Schnyder corneal dystrophy is a rare dominant disorder mostly reported in Western and occasionally Asian populations. This report documents the condition in an affected family from the historically isolated Arabian Peninsula. A child and her mother had central crystalline keratopathy consistent with Schnyder corneal dystrophy. Diagnostic UB1AD1 testing revealed a known point mutation (c.361C>T, p.L121F) in both individuals. Available asymptomatic family members had normal ophthalmic examinations and did not have the mutation. Blood lipid profiles for the two patients revealed mildly elevated total cholesterol and low-density lipoproteins. This report documents Schnyder corneal dystrophy on the Arabian Peninsula and further confirms its relationship with heterozygous UB1AD1 missense mutation.
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