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retinitis pigmentosa, X-linked with choroidal involvement

Genetics: - mutations in RPE65 gene Clinical manifestations: - loss of central vision - constriction of visual fields - night blindness - chorioretinal atrophy

Database Correlations

OMIM correlations

References

  1. Bowne SJ1, Humphries MM, Sullivan LS et al A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet. 2011 Oct;19(10):1074-81 PMID: 21654732