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
Dans Anglais
| 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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Indice:
Méditerranée orientale
Sujet Principal:
Cholestérol
/
Mutation
Type d'étude:
Enquête cas-témoins / Études cas/témoins
Limites du sujet:
Femelle
/
Humains
langue:
Anglais
Texte intégral:
Middle East Afr. J. Ophthalmol.
Année:
2011
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