Genetic markers for retinitis pigmentosa.
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.


METHODS
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.


METHODS
Literature and data related to genetic markers for retinitis pigmentosa.


RESULTS
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.
Wang
D Y
DY
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 147K Argyle Street, Hong Kong.
Chan
W M
WM
Tam
P O S
PO
Chiang
S W Y
SW
Lam
D S C
DS
Chong
K K L
KK
Pang
C P
CP
D002874:Chromosome Mapping; D005136:Eye Proteins / Q000235:genetics; D005819:Genetic Markers; D005820:Genetic Testing; D006801:Humans; D008869:Microtubule-Associated Proteins; D009154:Mutation; D011379:Prognosis; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics* / Q000517:prevention & control; D020741:rho GTP-Binding Proteins / Q000235:genetics
D005136:Eye Proteins; D005819:Genetic Markers; D008869:Microtubule-Associated Proteins; C120042:RP1 protein, human; C099929:RPGR protein, human; D020741:rho GTP-Binding Proteins