Schnyder corneal dystrophy in a Saudi Arabian family with heterozygous UBIAD1 mutation [p.L121F]
MEAJO-Middle East African Journal of Ophthalmology. 2011; 18 (1): 61-64
em Inglês
| IMEMR
| ID: emr-110934
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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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Colesterol
/
Mutação
Tipo de estudo:
Relato de Casos
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Middle East Afr. J. Ophthalmol.
Ano de publicação:
2011
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