Open AccessSchnyder corneal dystrophy in a Saudi Arabian family with heterozygous UBIAD1 mutation (p.L121F)
Author(s) -
Huda Al-Ghadeer,
Jawahir Y. Mohamed,
Arif O. Khan
Publication year - 2011
Publication title -
middle east african journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.357
H-Index - 25
eISSN - 0975-1599
pISSN - 0974-9233
DOI - 10.4103/0974-9233.75890
Subject(s) - medicine , missense mutation , corneal dystrophy , asymptomatic , mutation , ophthalmology , cornea , family history , dystrophy , point mutation , genetics , pathology , surgery , biology , gene
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.