Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Retinitis pigmentosa 23

Retinitis pigmentosa 23 is an x-linked retinal dystrophy caused by mutations of the ODF1 gene.

Systematic

Retinitis pigmentosa
Retinitis pigmentosa 17
Retinitis pigmentosa 23
OFD1

References:

1.

Hardcastle AJ et. al. (2000) Evidence for a new locus for X-linked retinitis pigmentosa (RP23).

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2.

Webb TR et. al. (2012) Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

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3.

McGuire RE et. al. (1995) X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11.

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Update: Oct. 11, 2018