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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.

Systematic

Hereditary ocular disease and visual impairment
Aplasia of lacrimal and salivary glands
Chediak-Higashi syndrome
Fish-eye disease
Hereditary glaucoma
IVIC syndrome
Knobloch syndrome 1
Lacrimoauriculodentodigital syndrome
Ligneous conjunctivitis
Macular degeneration
Manitoba oculotrichoanal syndrome
Papillorenal syndrome
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinitis pigmentosa
Retinitis pigmentosa 17
CA4
Retinitis pigmentosa 23
OFD1
Retinitis pigmentosa and erythrocytic microcytosis
TRNT1
Syndromic microphthalmia 6
Usher syndrome

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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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6.

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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7.

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.

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8.

Orphanet article

Orphanet ID 791 external link
9.

OMIM.ORG article

Omim 268000 external link
10.

Wikipedia article

Wikipedia EN (Retinitis_pigmentosa) external link
Update: Aug. 14, 2020
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