Human Molecular Genetics, Vol 8, 2031-2035, Copyright © 1999 by Oxford University Press
GC Black, R Perveen, R Bonshek, M Cahill, J Clayton-Smith, IC Lloyd and D McLeod
Coats' disease is characterized by abnormal retinal vascular development
(so-called 'retinal telangiectasis') which results in massive intraretinal
and subretinal lipid accumulation (exudative retinal detachment). The
classical form of Coats' disease is almost invariably isolated, unilateral
and seen in males. A female with a unilateral variant of Coats' disease
gave birth to a son affected by Norrie disease. Both carried a missense
mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of
the retinas of nine enucleated eyes from males with Coats' disease
demonstrated in one a somatic mutation in the NDP gene which was not
present within non- retinal tissue. We suggest that Coats' telangiectasis
is secondary to somatic mutation in the NDP gene which results in a
deficiency of norrin (the protein product of the NDP gene) within the
developing retina. This supports recent observations that the protein is
critical for normal retinal vasculogenesis.
ARTICLES
Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis
University Department of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester M13 OJH, UK,
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