Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Retinitis pigmentosa 1(RP1)

MedGen UID:
67395
Concept ID:
C0220701
Disease or Syndrome
Synonyms: RP1
 
Gene: RP1
Cytogenetic location: 8q12.1
OMIM: 180100

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

Retinitis pigmentosa
MedGen UID:
504473
Concept ID:
CN000477
Finding
Hereditary degeneration and atrophy of the retina.
Night blindness
MedGen UID:
504543
Concept ID:
CN000623
Finding
Inability to see well at night or in poor light.
Absent rod-and cone-mediated responses on ERG
MedGen UID:
425929
Concept ID:
CN006741
Finding
Absence of the combined rod-and-code response on electroretinogram.
Bony spicule pigmentary retinopathy
MedGen UID:
446852
Concept ID:
CN006786
Finding
A term for the pigmented cells within the retina in retinitis pigmentosa because of their resemblance to the nucleated cells within the lacuna of bone.

Term Hierarchy

Recent clinical studies

Etiology

Ahn SJ, Cho SI, Ahn J, Park SS, Park KH, Woo SJ
Invest Ophthalmol Vis Sci 2013 Jul 18;54(7):4856-63. doi: 10.1167/iovs.13-11643. PMID: 23745001
Chen CJ, Scholl HP, Birch DG, Iwata T, Miller NR, Goldberg MF
Arch Ophthalmol 2012 Dec;130(12):1554-9. doi: 10.1001/archophthalmol.2012.2683. PMID: 23229695Free PMC Article
Kim C, Kim KJ, Bok J, Lee EJ, Kim DJ, Oh JH, Park SP, Shin JY, Lee JY, Yu HG
Mol Vis 2012;18:2398-410. Epub 2012 Sep 25 PMID: 23049240Free PMC Article
Xiang F, Yan M, Song G, Zheng F
Genetika 2012 Jan;48(1):125-9. PMID: 22567862
Gao J, Cheon K, Nusinowitz S, Liu Q, Bei D, Atkins K, Azimi A, Daiger SP, Farber DB, Heckenlively JR, Pierce EA, Sullivan LS, Zuo J
Proc Natl Acad Sci U S A 2002 Apr 16;99(8):5698-703. doi: 10.1073/pnas.042122399. PMID: 11960024Free PMC Article

Diagnosis

Takahashi H, Hayashi T, Tsuneoka H, Nakano T, Yamada H, Katagiri S, Fujino Y, Noda Y, Yoshimoto M, Kawashima H
Doc Ophthalmol 2014 Aug;129(1):49-56. Epub 2014 May 17 doi: 10.1007/s10633-014-9443-0. [Epub ahead of print] PMID: 24838559
Siemiatkowska AM, Astuti GD, Arimadyo K, den Hollander AI, Faradz SM, Cremers FP, Collin RW
Mol Vis 2012;18:2411-9. Epub 2012 Oct 3 PMID: 23077400Free PMC Article
Kim C, Kim KJ, Bok J, Lee EJ, Kim DJ, Oh JH, Park SP, Shin JY, Lee JY, Yu HG
Mol Vis 2012;18:2398-410. Epub 2012 Sep 25 PMID: 23049240Free PMC Article
Grøndahl J, Riise R, Heiberg A, Leren T, Christoffersen T, Bragadottir R
Acta Ophthalmol Scand 2007 May;85(3):287-97. doi: 10.1111/j.1600-0420.2006.00820.x. PMID: 17488458
Shields JA, Demirci H, Mashayekhi A, Shields CL
Ophthalmology 2004 Sep;111(9):1739-46. doi: 10.1016/j.ophtha.2004.02.016. PMID: 15350331

Therapy

Takahashi H, Hayashi T, Tsuneoka H, Nakano T, Yamada H, Katagiri S, Fujino Y, Noda Y, Yoshimoto M, Kawashima H
Doc Ophthalmol 2014 Aug;129(1):49-56. Epub 2014 May 17 doi: 10.1007/s10633-014-9443-0. [Epub ahead of print] PMID: 24838559
Chiang SW, Wang DY, Chan WM, Tam PO, Chong KK, Lam DS, Pang CP
Eye (Lond) 2006 May;20(5):602-5. doi: 10.1038/sj.eye.6701944. PMID: 15933747

Prognosis

Ahn SJ, Cho SI, Ahn J, Park SS, Park KH, Woo SJ
Invest Ophthalmol Vis Sci 2013 Jul 18;54(7):4856-63. doi: 10.1167/iovs.13-11643. PMID: 23745001
Zhang X, Chen LJ, Law JP, Lai TY, Chiang SW, Tam PO, Chu KY, Wang N, Zhang M, Pang CP
Mol Vis 2010 Jul 15;16:1353-60. PMID: 20664799Free PMC Article
Grøndahl J, Riise R, Heiberg A, Leren T, Christoffersen T, Bragadottir R
Acta Ophthalmol Scand 2007 May;85(3):287-97. doi: 10.1111/j.1600-0420.2006.00820.x. PMID: 17488458
Bowne SJ, Daiger SP, Malone KA, Heckenlively JR, Kennan A, Humphries P, Hughbanks-Wheaton D, Birch DG, Liu Q, Pierce EA, Zuo J, Huang Q, Donovan DD, Sullivan LS
Mol Vis 2003 Apr 24;9:129-37. PMID: 12724644Free PMC Article
Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C
Nat Genet 2000 Sep;26(1):51-5. doi: 10.1038/79171. PMID: 10973247

Clinical prediction guides

Ahn SJ, Cho SI, Ahn J, Park SS, Park KH, Woo SJ
Invest Ophthalmol Vis Sci 2013 Jul 18;54(7):4856-63. doi: 10.1167/iovs.13-11643. PMID: 23745001
Chen CJ, Scholl HP, Birch DG, Iwata T, Miller NR, Goldberg MF
Arch Ophthalmol 2012 Dec;130(12):1554-9. doi: 10.1001/archophthalmol.2012.2683. PMID: 23229695Free PMC Article
Xiang F, Yan M, Song G, Zheng F
Genetika 2012 Jan;48(1):125-9. PMID: 22567862
Omori Y, Chaya T, Katoh K, Kajimura N, Sato S, Muraoka K, Ueno S, Koyasu T, Kondo M, Furukawa T
Proc Natl Acad Sci U S A 2010 Dec 28;107(52):22671-6. Epub 2010 Dec 8 doi: 10.1073/pnas.1009437108. [Epub ahead of print] PMID: 21148103Free PMC Article
Bowne SJ, Daiger SP, Malone KA, Heckenlively JR, Kennan A, Humphries P, Hughbanks-Wheaton D, Birch DG, Liu Q, Pierce EA, Zuo J, Huang Q, Donovan DD, Sullivan LS
Mol Vis 2003 Apr 24;9:129-37. PMID: 12724644Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...