TY - JOUR
T1 - DNA diagnosis in a family with autosomal dominant aniridia
AU - Verbraak, F. D.
AU - Mannens, M. A.
AU - Redeker, E. J.
AU - Saunders, G. F.
AU - Bleeker-Wagemakers, E. M.
PY - 1991
Y1 - 1991
N2 - 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
AB - 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
U2 - https://doi.org/10.3109/13816819109025812
DO - https://doi.org/10.3109/13816819109025812
M3 - Article
C2 - 1815167
SN - 0167-6784
VL - 12
SP - 165
EP - 170
JO - Ophthalmic paediatrics and genetics
JF - Ophthalmic paediatrics and genetics
IS - 4
ER -