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Retinitis pigmentosa 18(RP18)

MedGen UID:
371314
Concept ID:
C1832378
Disease or Syndrome
Synonyms: PRPF 3-Related Retinitis Pigmentosa; RP 18; RP18
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: PRPF3
Cytogenetic location: 1q21.2
OMIM®: 601414

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

Scotoma
MedGen UID:
504504
Concept ID:
CN000540
Finding
Scotoma refers to an area or island of loss or impairment of visual acuity surrounded by a field of normal or relatively well-preserved vision.
Night blindness
MedGen UID:
504543
Concept ID:
CN000623
Finding
Inability to see well at night or in poor light.
Progressive visual field defects
MedGen UID:
429176
Concept ID:
CN007019
Finding
Retinal arteriolar constriction
MedGen UID:
425956
Concept ID:
CN007070
Finding
Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.
Retinal arteriolar constriction
MedGen UID:
425956
Concept ID:
CN007070
Finding
Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.

Term Hierarchy

Recent clinical studies

Etiology

Pilli S, Zawadzki RJ, Telander DG
Retina 2014 Jul;34(7):1384-90. doi: 10.1097/IAE.0000000000000064. PMID: 24368307
Masahara H, Nakazawa M, Kawamura E, Eguchi S
Ophthalmologica 2014;231(1):51-7. Epub 2013 Nov 9 doi: 10.1159/000355093. [Epub ahead of print] PMID: 24217333
Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E; LCA5 Study Group, Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CC, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B, Qamar R, Webster AR, Cremers FP, Moore AT, Koenekoop RK
Hum Mutat 2013 Nov;34(11):1537-46. Epub 2013 Sep 17 doi: 10.1002/humu.22398. [Epub ahead of print] PMID: 23946133
Ikeda Y, Yoshida N, Notomi S, Murakami Y, Hisatomi T, Enaida H, Ishibashi T
Br J Ophthalmol 2013 Sep;97(9):1187-91. Epub 2013 Jun 19 doi: 10.1136/bjophthalmol-2012-303005. [Epub ahead of print] PMID: 23782868
Rotenstreich Y, Belkin M, Sadetzki S, Chetrit A, Ferman-Attar G, Sher I, Harari A, Shaish A, Harats D
JAMA Ophthalmol 2013 Aug;131(8):985-92. doi: 10.1001/jamaophthalmol.2013.147. PMID: 23700011

Diagnosis

Pilli S, Zawadzki RJ, Telander DG
Retina 2014 Jul;34(7):1384-90. doi: 10.1097/IAE.0000000000000064. PMID: 24368307
Masahara H, Nakazawa M, Kawamura E, Eguchi S
Ophthalmologica 2014;231(1):51-7. Epub 2013 Nov 9 doi: 10.1159/000355093. [Epub ahead of print] PMID: 24217333
Wen R, Lam BL, Guan Z
J Lipid Res 2013 Dec;54(12):3516-22. Epub 2013 Sep 27 doi: 10.1194/jlr.M043232. [Epub ahead of print] PMID: 24078709Free PMC Article
Duncker T, Lee W, Tsang SH, Greenberg JP, Zernant J, Allikmets R, Sparrow JR
Invest Ophthalmol Vis Sci 2013 Oct 17;54(10):6820-6. doi: 10.1167/iovs.13-12895. PMID: 24071957Free PMC Article
Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E; LCA5 Study Group, Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CC, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B, Qamar R, Webster AR, Cremers FP, Moore AT, Koenekoop RK
Hum Mutat 2013 Nov;34(11):1537-46. Epub 2013 Sep 17 doi: 10.1002/humu.22398. [Epub ahead of print] PMID: 23946133

Therapy

Pilli S, Zawadzki RJ, Telander DG
Retina 2014 Jul;34(7):1384-90. doi: 10.1097/IAE.0000000000000064. PMID: 24368307
Ikeda Y, Yoshida N, Notomi S, Murakami Y, Hisatomi T, Enaida H, Ishibashi T
Br J Ophthalmol 2013 Sep;97(9):1187-91. Epub 2013 Jun 19 doi: 10.1136/bjophthalmol-2012-303005. [Epub ahead of print] PMID: 23782868
Rotenstreich Y, Belkin M, Sadetzki S, Chetrit A, Ferman-Attar G, Sher I, Harari A, Shaish A, Harats D
JAMA Ophthalmol 2013 Aug;131(8):985-92. doi: 10.1001/jamaophthalmol.2013.147. PMID: 23700011
Li Y, Tsai YT, Hsu CW, Erol D, Yang J, Wu WH, Davis RJ, Egli D, Tsang SH
Mol Med 2012 Dec 6;18:1312-9. doi: 10.2119/molmed.2012.00242. [Epub ahead of print] PMID: 22895806Free PMC Article
Schatz A, Röck T, Naycheva L, Willmann G, Wilhelm B, Peters T, Bartz-Schmidt KU, Zrenner E, Messias A, Gekeler F
Invest Ophthalmol Vis Sci 2011 Jun 23;52(7):4485-96. doi: 10.1167/iovs.10-6932. PMID: 21467183

Prognosis

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
Pan Z, Lu T, Zhang X, Dai H, Yan W, Bai F, Li Y
Mol Vis 2012;18:3013-20. Epub 2012 Dec 14 PMID: 23288993Free PMC Article
Falsini B, Galli-Resta L, Fadda A, Ziccardi L, Piccardi M, Iarossi G, Resta G
Invest Ophthalmol Vis Sci 2012 Nov 19;53(12):7701-9. doi: 10.1167/iovs.12-11017. PMID: 23111612
Hosono K, Ishigami C, Takahashi M, Park DH, Hirami Y, Nakanishi H, Ueno S, Yokoi T, Hikoya A, Fujita T, Zhao Y, Nishina S, Shin JP, Kim IT, Yamamoto S, Azuma N, Terasaki H, Sato M, Kondo M, Minoshima S, Hotta Y
PLoS One 2012;7(2):e31036. Epub 2012 Feb 17 doi: 10.1371/journal.pone.0031036. PMID: 22363543Free PMC Article
Schatz A, Röck T, Naycheva L, Willmann G, Wilhelm B, Peters T, Bartz-Schmidt KU, Zrenner E, Messias A, Gekeler F
Invest Ophthalmol Vis Sci 2011 Jun 23;52(7):4485-96. doi: 10.1167/iovs.10-6932. PMID: 21467183

Clinical prediction guides

Masahara H, Nakazawa M, Kawamura E, Eguchi S
Ophthalmologica 2014;231(1):51-7. Epub 2013 Nov 9 doi: 10.1159/000355093. [Epub ahead of print] PMID: 24217333
Wen R, Lam BL, Guan Z
J Lipid Res 2013 Dec;54(12):3516-22. Epub 2013 Sep 27 doi: 10.1194/jlr.M043232. [Epub ahead of print] PMID: 24078709Free 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
Rotenstreich Y, Belkin M, Sadetzki S, Chetrit A, Ferman-Attar G, Sher I, Harari A, Shaish A, Harats D
JAMA Ophthalmol 2013 Aug;131(8):985-92. doi: 10.1001/jamaophthalmol.2013.147. PMID: 23700011
Dikopf MS, Chow CC, Mieler WF, Tu EY
Am J Ophthalmol 2013 Jul;156(1):82-88.e2. Epub 2013 Apr 28 doi: 10.1016/j.ajo.2013.02.002. [Epub ahead of print] PMID: 23628349

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