Norrie disease in a family with a manifesting female carrier

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.