Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Retinitis pigmentosa

Retinitis pigmentosa is a hereditary retinal dystrophy which is characterized by a preogressive loss in photoreceptors. Variable forms of inheritanc are associated with this disease (dominant, recessive, X-linked, mitochondrial). It is a common symptom in various ciliopathies.


Hereditary ocular disease and visual impairment
Aplasia of lacrimal and salivary glands
Fish-eye disease
Hereditary glaucoma
IVIC syndrome
Knobloch syndrome 1
Lacrimoauriculodentodigital syndrome
Ligneous conjunctivitis
Macular degeneration
Manitoba oculotrichoanal syndrome
Papillorenal syndrome
Retinitis pigmentosa
Retinitis pigmentosa 17
Retinitis pigmentosa 23
Syndromic microphthalmia 6
Usher syndrome



Rebello G et. al. (2004) Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.


Yang Z et. al. (2005) Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.


Alvarez BV et. al. (2007) Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.


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


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).


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.


Bardien-Kruger S et. al. (1999) Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin.

Update: Oct. 11, 2018