OBJECTIVE. To review recent advances in the molecular genetics of retinitis pigmentosa with emphasis on the development of genetic markers that aids diagnosis and prognosis.

DATA SOURCES AND EXTRACTION. Literature search of MEDLINE from 1988 to 2005 using the following key words: ‘retinitis pigmentosa’, ‘rhodopsin’, ‘RP1’, ‘RPGR’, and ‘genetic counseling’. References of two genes—RHO and RP1—causing retinitis pigmentosa in the Chinese population were reviewed.

STUDY SELECTION. Literature and data related to genetic markers for retinitis pigmentosa.

DATA SYNTHESIS. The genetics of retinitis pigmentosa is complex. It can be sporadic or familial, with heterogeneous transmission modes. Retinitis pigmentosa is associated with nearly 40 chromosomal loci, where 32 candidate genes have been identified. A large number of mutations are known to cause retinitis pigmentosa. But no single mutation alone accounts for more than 10% of unrelated retinitis pigmentosa patients. Genetic tests for retinitis pigmentosa require screening for a consort of mutations in a large number of genes. High throughput screening technology such as denaturing high performance liquid chromatography and automated DNA sequencing should make such tests feasible.

CONCLUSIONS. Rapid developments in the understanding of the genetics of retinitis pigmentosa have helped to establish genetic tests of clinical value. The complex mode of inheritance nonetheless makes genetic counselling difficult, even in the presence of positive genetic screening results.

Key words: Genetic counseling; Genetic heterogeneity; Retinitis pigmentosa

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