%0 Journal Article
%T Schnyder corneal dystrophy in a Saudi Arabian family with heterozygous UBIAD1 mutation (p.L121F)
%A Al-Ghadeer Huda
%A Mohamed Jawahir
%A Khan Arif
%J Middle East African Journal of Ophthalmology
%D 2011
%I Medknow Publications
%X 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.
%K Cholesterol
%K Saudi Arabia
%K Schnyder Corneal Dystrophy
%K UBIAD1
%U http://www.meajo.org/article.asp?issn=0974-9233;year=2011;volume=18;issue=1;spage=61;epage=64;aulast=Al-Ghadeer