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Arif O Khan, Saleh Al-Mesfer, Shahira Al-Turkmani, S Amer Riazuddin; Ocular and extraocular features of Arabian children with Peters anomaly. Invest. Ophthalmol. Vis. Sci. 2014;55(13):4504.
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Peters anomaly, a spectrum of central posterior corneal abnormality with variable adhesion to the iris and/or lens, can be isolated or associated with different clinical findings. In the Middle East, where intrafamilial (consanguineous) and intratribal (endogamous) marriages are socially acceptable and practiced, phenotypic and genetic features may differ from what has been previously reported. Over the last 2 years we have prospectively enrolled families of children previously diagnosed with Peters anomaly at the King Khaled Eye Specialist Hospital in Riyadh, Saudi Arabia, to participate in a clinical-genetic study of the disorder in the region. This study describes phenotypes of our cohort to date.
Clinical history, ophthalmic examination, general physical examination with attention to facial features.
36 cases are enrolled to date. 23 were sporadic (simplex), of which 17 were bilateral. 13 were familial (multiplex) from 5 families, all of which were bilateral. Regarding the 5 multiplex families, 4 had inheritance compatible with autosomal recessive disease while the 5th had inheritance consistent with autosomal dominant disease. All cases were from consanguineous and/or endogamous families except for the individuals from the one apparently autosomal dominant family. Familial cases had ocular phenotypes of 2 types: (1) small central corneal opacity with lenticulocorneal adhesion and shallow anterior chamber or (2) large central corneal opacity with iridocorneal adhesion and deep anterior chamber. Regarding extraocular findings in our cohort, 17 cases had long philtrum (often with a thin upper lip), 5 had grossly abnormal ears, 2 had developmental delay, 1 had short stature, and 1 had congenital heart defect.
Peters anomaly is often bilateral in this population, even in simplex cases. Two distinct familial ocular phenotypes are recognizable. Long philtrum, often with a thin upper lip, is a typical extraocular feature. Recessive cause seems common but this needs to be confirmed with genetic study.
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