title: DNA diagnosis in a family with autosomal dominant aniridia.
abstract: A large family with autosomal dominant aniridia is described. One of the family members presented with reduced visual acuity, nystagmus, slightly distorted macular reflex, but normal irides and clear media. Because of the high variability in expression of aniridia, even within family, a diagnosis of aniridia could not be excluded. However linkage analysis using tightly linked chromosome 11p13 markers flanking the aniridia locus (catalase, D11S151, and D11S325) made it highly unlikely that this patient inherited the aniridia gene from his affected mother.
authors.affiliation: Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam.
authors.forename: F D
authors.initials: FD
authors.lastname: Verbraak
authors.forename: M A
authors.initials: MA
authors.lastname: Mannens
authors.forename: E J
authors.initials: EJ
authors.lastname: Redeker
authors.forename: G F
authors.initials: GF
authors.lastname: Saunders
authors.forename: E M
authors.initials: EM
authors.lastname: Bleeker-Wagemakers
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015783:Aniridia / Q000175:diagnosis / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11; D004247:DNA / Q000032:analysis*; D005190:Family; D005260:Female; D015870:Gene Expression; D008040:Genetic Linkage / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D005901:Glaucoma / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009759:Nystagmus, Pathologic / Q000235:genetics; D010375:Pedigree; D014792:Visual Acuity
chemical_list: D004247:DNA