1.
Can J Ophthalmol
; 40(2): 195-9, 2005 Apr.
Article
in English
| MEDLINE
| ID: mdl-16049536
Subject(s)
Facial Bones/abnormalities , Mental Health , Microcephaly/complications , Retinal Degeneration/complications , Skull/abnormalities , Brain/anatomy & histology , Child , Color Vision Defects/complications , Color Vision Defects/physiopathology , Electroretinography , Humans , Male , Microcephaly/diagnosis , Microcephaly/physiopathology , Photoreceptor Cells, Vertebrate/physiology , Retinal Degeneration/physiopathology , Visual Field Tests , Visual Fields
2.
Am J Med Genet A
; 121A(1): 15-9, 2003 Aug 15.
Article
in English
| MEDLINE
| ID: mdl-12900895
ABSTRACT
Congenital cataracts are a common cause of preventable blindness in children. We studied autosomal dominant congenital cataracts in 38 families and examined linkage between cataract loci and the crystallin genes on chromosomes 2, 11, 17, 21, and 22. We used clinical information to group families with phenotypically similar cataracts and analyzed the genetic data in these groups. Although LOD scores > 3.0 were not obtained, we found some support for linkage to four of the chromosomal regions examined, namely 2q33-35, 17q11.2-12, 21q22.3, and 22q11.2.