Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene
R. Y. Kim, H. Dollfus, T. J. Keen, F. W. Fitzke, G. B. Arden, S. S. Bhattacharya and A. C. Bird
Institute of Ophthalmology and Moorfields Eye Hospital, London, England.
OBJECTIVE: To define the phenotype of a retinal dystrophy associated with a
4-base pair insertion at codon 140 of the peripherin/RDS gene. PATIENTS:
Six affected members spanning two generations of a single family were
examined. Five were studied in detail electrophysiologically and
psychophysically. METHODS: Psychophysical testing included color vision
testing, photopic and scotopic static threshold perimetry, and dark
adaptometry. Electrophysiological testing included flash and pattern
electroretinography, as well as electrooculography. RESULTS: Clinical
findings ranged from subtle pigmentary changes at the level of the retinal
pigment epithelium to more widespread pigmentary changes associated with
choroidal neovascularization. Those with severe fundus changes exhibited
greater abnormalities in psychophysical and electrophysiological testing
than those with minimal fundus changes. CONCLUSIONS: This particular
peripherin/RDS gene mutation is associated with dominantly inherited
pattern dystrophy of the retina. The phenotypic expression is variable in a
manner not explained by age.
