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Ophthalmic Paediatrics and Genetics Volume 2, 1983 - Issue 1
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Original Article

Hereditary macular coloboma

F. M. H. Pasman Department of Ophthalmology, University of Nijmegen, Nijmegen, The Netherlands
&
A. Pinckers Department of Ophthalmology, University of Nijmegen, Nijmegen, The Netherlands
Pages 67-72 | Published online: 08 Jul 2009
 
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Abstract

An autosomal dominant inherited macular coloboma, not combined with other dysmorphies, is reported. Because of a 'sporadic'unilateral macular coloboma in a distant relative, penetrance may be reduced and expression varying. In one patient the coloboma was complicated by bilateral retinal detachment.

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