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Retinal aplasia in association with macular coloboma, keratoconus and cataract
Author(s) -
Leighton D. A.,
Harris R.
Publication year - 1973
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1973.tb01154.x
Subject(s) - aplasia , medicine , ophthalmology , keratoconus , retinal , coloboma , anatomy , cornea
Two families are described in which macular autosomal recessive retinal aplasia was confirmed by electroretinography. In one family macular coloboma, not previously reported in retinal aplasia. was associated with near complete blindness. In another family there were two affected siblings and their parents were firat zuuains. In a malc sibling, retinal aplasia was associated with keratoconus and cataract, and in his affected sister the ocular fundi appeared nearly normal.