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Arch Ophthalmol. 1997 Apr;115(4):517-9.

Norrie disease in a family with a manifesting female carrier.

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Developmental Neurogenetics Laboratories, Massachusetts General Hospital, Charlestown, USA.



To show that Norrie disease can occur in a girl and to describe her ophthalmologic and genetic features.


Amplification of DNA polymerase chain reaction and sequencing of asymmetric polymerase chain reaction for exon 3 were performed on the blood specimen obtained from a girl born with bilateral retinal detachments.


A female child with bilateral retinal detachment who had 2 uncles in whom Norrie disease had already been diagnosed.


The child had a mutation in the third exon (T776-->A; Ile 123-->Asn) identical to the mutation found in her uncles.


Norrie disease can occur in girls. The most likely explanation is nonrandom or unfavorable X inactivation, although timing of development of the peripheral retina and its blood supply could render it vulnerable to effects of the mutant allele at a critical developmental phase.

[Indexed for MEDLINE]

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