Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity.
Familial exudative vitreoretinopathy (FEVR) is a disorder characterised by peripheral retinal vascularisation with subsequent traction of retinal vessels and detachment. Recently, autosomal dominant FEVR (ad FEVR) has been mapped to 11q13 by linkage in four northern European families. We describe a large consanguineous Asian family in which the severity of the proband's eye disease suggested homozygosity for a disease allele. Thirty family members were assessed by ophthalmological examination and fluorescein angiography. Thirteen had unequivocal features of FEVR. A further two were classified as unknown. Two point linkage analysis for DIIS533 and FEVR generated a lod score of 5.55 at a recombination fraction of 0.00. This supports autosomal dominant inheritance and demonstrates genetic homogeneity for the ad FEVR disease locus. The severely affected proband was heterozygous for alleles at this closely linked locus. Other causes, including non-genetic factors, should be considered to explain the extreme variability characteristic of ad FEVR.
Price
S M
SM
Department of Clinical Genetics, Leicester Royal Infirmary, UK.
Periam
N
N
Humphries
A
A
Woodruff
G
G
Trembath
R C
RC
D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D001208:Asia; D002648:Child; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11; D003241:Consanguinity; D004247:DNA / Q000032:analysis; D005122:Exudates and Transudates; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics*; D014822:Vitreous Body / Q000473:pathology*
D004247:DNA