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Retinitis pigmentosa 26(RP26)

MedGen UID:
333996
Concept ID:
C1842127
Disease or Syndrome
Synonyms: RP 26; RP26
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): CERKL (2q31.3)
OMIM®: 608380

Disease characteristics

Excerpted from the GeneReview: Retinitis Pigmentosa Overview
Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition of Retinitis Pigmentosa  |  Causes  |  Evaluation Strategy  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Abigail T Fahim  |  Stephen P Daiger  |  Richard G Weleber   view full author information

Clinical features

Constriction of peripheral visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Optic disc pallor
MedGen UID:
482636
Concept ID:
C3281006
Finding
A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Limitation in visual functions.
Undetectable light- and dark-adapted electroretinogram
MedGen UID:
867212
Concept ID:
C4021570
Finding
Absence of the combined rod-and-code response on electroretinogram.
Rod-cone dystrophy
MedGen UID:
504473
Concept ID:
CN000477
Finding
Progressive rod photoreceptor dysfunction and loss that leads to night blindness and loss of peripheral visual field, either as the prevailing problem or occurring at least as severely as cone dysfunction. Occurs most often as retinitis pigmentosa (Hereditary degeneration and atrophy of the retina).
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Cai CX, Locke KG, Ramachandran R, Birch DG, Hood DC
Invest Ophthalmol Vis Sci 2014 Oct 23;55(11):7417-22. doi: 10.1167/iovs.14-15013. PMID: 25342618Free PMC Article
Makiyama Y, Oishi A, Otani A, Ogino K, Nakagawa S, Kurimoto M, Yoshimura N
Retina 2014 May;34(5):981-8. doi: 10.1097/IAE.0000000000000010. PMID: 24756036
Zhang X, Lai TY, Chiang SW, Tam PO, Liu DT, Chan CK, Pang CP, Zhao C, Chen LJ
Eye (Lond) 2013 Oct;27(10):1204-13. Epub 2013 Jul 26 doi: 10.1038/eye.2013.137. [Epub ahead of print] PMID: 23887765Free PMC Article
Bittner AK, Haythornthwaite JA, Diener-West M, Dagnelie G
Br J Ophthalmol 2013 Feb;97(2):145-8. Epub 2012 Dec 4 doi: 10.1136/bjophthalmol-2012-302116. [Epub ahead of print] PMID: 23212205Free PMC Article
Gedik S, Gonul S, Koktekir BE, Bakbak B
Saudi Med J 2012 Dec;33(12):1330-3. PMID: 23232682

Diagnosis

Sofi F, Sodi A, Franco F, Murro V, Biagini D, Miele A, Abbruzzese G, Mucciolo DP, Virgili G, Menchini U, Casini A, Rizzo S
BMC Ophthalmol 2016 Jan 22;16:13. doi: 10.1186/s12886-016-0187-3. [Epub ahead of print] PMID: 26801981Free PMC Article
Cai CX, Locke KG, Ramachandran R, Birch DG, Hood DC
Invest Ophthalmol Vis Sci 2014 Oct 23;55(11):7417-22. doi: 10.1167/iovs.14-15013. PMID: 25342618Free PMC Article
Makiyama Y, Oishi A, Otani A, Ogino K, Nakagawa S, Kurimoto M, Yoshimura N
Retina 2014 May;34(5):981-8. doi: 10.1097/IAE.0000000000000010. PMID: 24756036
Bhalla S, Joshi D, Bhullar S, Kasuga D, Park Y, Kay CN
Br J Ophthalmol 2013 Jul;97(7):895-9. Epub 2013 Apr 20 doi: 10.1136/bjophthalmol-2013-303084. [Epub ahead of print] PMID: 23603755
Bittner AK, Haythornthwaite JA, Diener-West M, Dagnelie G
Br J Ophthalmol 2013 Feb;97(2):145-8. Epub 2012 Dec 4 doi: 10.1136/bjophthalmol-2012-302116. [Epub ahead of print] PMID: 23212205Free PMC Article

Therapy

Sofi F, Sodi A, Franco F, Murro V, Biagini D, Miele A, Abbruzzese G, Mucciolo DP, Virgili G, Menchini U, Casini A, Rizzo S
BMC Ophthalmol 2016 Jan 22;16:13. doi: 10.1186/s12886-016-0187-3. [Epub ahead of print] PMID: 26801981Free PMC Article
Deng WT, Dyka FM, Dinculescu A, Li J, Zhu P, Chiodo VA, Boye SL, Conlon TJ, Erger K, Cossette T, Hauswirth WW
Hum Gene Ther 2015 Sep;26(9):593-602. Epub 2015 Jul 29 doi: 10.1089/hum.2015.035. [Epub ahead of print] PMID: 26076799Free PMC Article
Pozo MG, Bravo-Gil N, Méndez-Vidal C, Montero-de-Espinosa I, Millán JM, Dopazo J, Borrego S, Antiñolo G
Am J Med Genet A 2015 Jul;167(7):1597-600. Epub 2015 Mar 30 doi: 10.1002/ajmg.a.37003. [Epub ahead of print] PMID: 25823529
Cai CX, Locke KG, Ramachandran R, Birch DG, Hood DC
Invest Ophthalmol Vis Sci 2014 Oct 23;55(11):7417-22. doi: 10.1167/iovs.14-15013. PMID: 25342618Free PMC Article
Bhalla S, Joshi D, Bhullar S, Kasuga D, Park Y, Kay CN
Br J Ophthalmol 2013 Jul;97(7):895-9. Epub 2013 Apr 20 doi: 10.1136/bjophthalmol-2013-303084. [Epub ahead of print] PMID: 23603755

Prognosis

Cai CX, Locke KG, Ramachandran R, Birch DG, Hood DC
Invest Ophthalmol Vis Sci 2014 Oct 23;55(11):7417-22. doi: 10.1167/iovs.14-15013. PMID: 25342618Free PMC Article
Zhang X, Lai TY, Chiang SW, Tam PO, Liu DT, Chan CK, Pang CP, Zhao C, Chen LJ
Eye (Lond) 2013 Oct;27(10):1204-13. Epub 2013 Jul 26 doi: 10.1038/eye.2013.137. [Epub ahead of print] PMID: 23887765Free PMC Article
Bhalla S, Joshi D, Bhullar S, Kasuga D, Park Y, Kay CN
Br J Ophthalmol 2013 Jul;97(7):895-9. Epub 2013 Apr 20 doi: 10.1136/bjophthalmol-2013-303084. [Epub ahead of print] PMID: 23603755
Bittner AK, Haythornthwaite JA, Diener-West M, Dagnelie G
Br J Ophthalmol 2013 Feb;97(2):145-8. Epub 2012 Dec 4 doi: 10.1136/bjophthalmol-2012-302116. [Epub ahead of print] PMID: 23212205Free PMC Article
Xue K, Wang M, Chen J, Huang X, Xu G
Ophthalmologica 2013;229(1):38-42. Epub 2012 Oct 12 doi: 10.1159/000337227. [Epub ahead of print] PMID: 23075489

Clinical prediction guides

Makiyama Y, Oishi A, Otani A, Ogino K, Nakagawa S, Kurimoto M, Yoshimura N
Retina 2014 May;34(5):981-8. doi: 10.1097/IAE.0000000000000010. PMID: 24756036
Winkler PA, Ekenstedt KJ, Occelli LM, Frattaroli AV, Bartoe JT, Venta PJ, Petersen-Jones SM
PLoS One 2013;8(8):e72229. Epub 2013 Aug 19 doi: 10.1371/journal.pone.0072229. PMID: 23977260Free PMC Article
Zhang X, Lai TY, Chiang SW, Tam PO, Liu DT, Chan CK, Pang CP, Zhao C, Chen LJ
Eye (Lond) 2013 Oct;27(10):1204-13. Epub 2013 Jul 26 doi: 10.1038/eye.2013.137. [Epub ahead of print] PMID: 23887765Free PMC Article
Bhalla S, Joshi D, Bhullar S, Kasuga D, Park Y, Kay CN
Br J Ophthalmol 2013 Jul;97(7):895-9. Epub 2013 Apr 20 doi: 10.1136/bjophthalmol-2013-303084. [Epub ahead of print] PMID: 23603755
Iwanami M, Oshikawa M, Nishida T, Nakadomari S, Kato S
Invest Ophthalmol Vis Sci 2012 Feb 27;53(2):1033-40. doi: 10.1167/iovs.11-9048. PMID: 22302105

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