Phenotype-genotype correlations in XXXX caused by RHO, @entity71515 .

@entity1 @entity74 @entity71515 @entity6391
PURPOSE: To phenotype a family with RHO ( @entity71515 or @entity71515 ) @entity74 ( @entity6391 ) and to describe an approach to surveying affected families. METHODS: Four @entity1 from a family with a history of autosomal dominant @entity6391 had complete clinical examinations and underwent full-field electroretinography (ERG), fundus autofluorescence (AF) imaging, and genetic testing. One @entity1 had microperimetry (MP) mapping. RESULTS: The @entity1 ' ages ranged from 6 years to 47 years. The proband, the father, had fundoscopic findings typical of @entity6391 . A small hyperfluorescent ring centered at the fovea was apparent on AF. MP showed preservation of central 7 degrees of visual field within this ring. The three @entity1 were all asymptomatic with visual acuity of 20/15 in each eye. One @entity1 had mild retinal pigment epithelium migration on fundoscopy; the other two @entity1 had normal fundoscopic examinations. Two @entity1 showed increased parafoveal AF. In the two affected @entity1 , average ERG b-wave implicit times were delayed in scotopic conditions, and maximal ERG tracings had abnormal waveforms. Genetic analysis confirmed that two of three asymptomatic @entity1 carried the @entity71515 allele. CONCLUSIONS: @entity1 with RHO ( @entity71515 ) @entity6391 ( @entity6391 ) can show classic signs of @entity6391 on fundus examination and may be able to maintain good central visual acuity into adulthood. By combining clinical examination with AF imaging and electrophysiology, it is possible to offer presymptomatic clinical evaluation to families with this @entity6391 .
