Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P

DOI to cite this document:: 10.5283/epub.1976

Graw, Jochen

; Klopp, Norman ; Illig, Thomas ; Preising, Markus N. ; Lorenz, Birgit

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Date of publication of this fulltext: 05 Aug 2009 13:35

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Abstract

Background: An isolated form of congenital cataract associated with macular hypoplasia and a generally hypopigmented fundus in infancy was observed in a German family. To test the hypothesis that a de-novo mutation had occurred in one of the parental germ lines, a functional candidate gene approach was applied. Methods: The family was carefully examined by a senior paediatric ophthalmologist ...