A retrospective study of registered retinitis pigmentosa patients in The Netherlands.
A retrospective study was performed of patients with retinitis pigmentosa (RP) registered at the Department of Ophthalmogenetics of the Netherlands Ophthalmic Research Institute. The aim was to establish the relative frequencies of the genetic modes and to attempt a clinical subclassification. Of the 575 RP patients, 10.4% were X-linked, 22.4% autosomal dominant, 30.1% autosomal recessive, and 37.1% simplex cases. Clinical classification was inconclusive, and consequently correlation of phenotype to genotype impossible in most cases. One exception was the occurrence of a tapetal reflex, which seemed to differentiate between RP2 and RP3. Gene defects have not been detected so far in Dutch families with either autosomal dominant or autosomal recessive RP. In the future, simplex cases will have to be classified according to their genetic defects. It is probable that results of DNA studies may prove a better basis for classification of RP than clinical data.
van den Born
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LI
The Netherlands Ophthalmic Research Institute, Department of Ophthalmogenetics, Amsterdam.
Bergen
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AA
Bleeker-Wagemakers
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EM
D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009426:Netherlands / Q000453:epidemiology; D010375:Pedigree; D012042:Registries; D012174:Retinitis Pigmentosa / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D012189:Retrospective Studies; D014960:X Chromosome