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Middle East African Journal of Ophthalmology Middle East African Journal of Ophthalmology
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CASE REPORT
Year : 2011  |  Volume : 18  |  Issue : 1  |  Page : 61-64

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


1 King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
2 Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
3 King Khaled Eye Specialist Hospital and Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

Correspondence Address:
Arif O Khan
King Khaled Eye Specialist Hospital, PO Box 7191, Riyadh 11462
Saudi Arabia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-9233.75890

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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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