Abstract
Norrie disease is a rare, X-linked recessive disorder characterized by congenital blindness due to malformed retinas. We describe a simplex patient who had leukokoria and whose clinical diagnosis was confirmed only after molecular genetics analysis. DNA analysis was also used to determine the carrier status of relatives of the proband.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Base Sequence
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Blindness / congenital
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Chromosome Deletion*
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DNA / analysis*
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DNA Mutational Analysis
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Eye Enucleation
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Genetic Linkage / genetics*
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Humans
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Infant, Newborn
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Male
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Molecular Sequence Data
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Pedigree
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Point Mutation
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Retina / abnormalities*
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Retina / pathology
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Retinal Degeneration / diagnosis*
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Retinal Degeneration / genetics
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Retinal Detachment / genetics
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Retinal Detachment / pathology
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Sex Chromosome Aberrations / diagnosis*
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Sex Chromosome Aberrations / genetics
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X Chromosome*