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Retinitis pigmentosa 78(RP78)

MedGen UID:
1378790
•Concept ID:
C4479481
•
Disease or Syndrome
Synonym: RP78
 
Gene (location): ARHGEF18 (19p13.2)
 
Monarch Initiative: MONDO:0044314
OMIM®: 617433

Definition

Retinitis pigmentosa-78 (RP78) is an autosomal recessive retinal dystrophy that presents in the third to fourth decade with central visual disturbance, visual field defects, and nyctalopia. Fundus examination reveals optic disc pallor, attenuated retinal vessels, and irregular midperipheral intraretinal pigment migration (Arno et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

Clinical features

From HPO
Cystoid macular edema
MedGen UID:
7435
•Concept ID:
C0024440
•
Disease or Syndrome
Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al., 2015).
See: Feature record | Search on this feature
Night blindness
MedGen UID:
10349
•Concept ID:
C0028077
•
Disease or Syndrome
Inability to see well at night or in poor light.
See: Feature record | Search on this feature
Photopsia
MedGen UID:
43219
•Concept ID:
C0085635
•
Disease or Syndrome
Perceived flashes of light.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Optic disc pallor
MedGen UID:
108218
•Concept ID:
C0554970
•
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
See: Feature record | Search on this feature
Visual field defect
MedGen UID:
854603
•Concept ID:
C3887875
•
Finding
An absolute or relative reduction in the extent of the normal field of vision.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Optical coherence tomography angiography in primary eye care.
Coffey AM, Hutton EK, Combe L, Bhindi P, Gertig D, Constable PA
Clin Exp Optom 2021 Jan;104(1):3-13. doi: 10.1111/cxo.13068. PMID: 32285493
Management of Retinitis Pigmentosa via Platelet-Rich Plasma or Combination with Electromagnetic Stimulation: Retrospective Analysis of 1-Year Results.
Arslan U, Özmert E
Adv Ther 2020 May;37(5):2390-2412. Epub 2020 Apr 18 doi: 10.1007/s12325-020-01308-y. PMID: 32303913
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Molina-Ramírez LP, Lenassi E, Ellingford JM, Sergouniotis PI, Ramsden SC, Bruce IA, Black GCM
Otol Neurotol 2020 Apr;41(4):431-437. doi: 10.1097/MAO.0000000000002588. PMID: 32176120

Recent clinical studies

Etiology

Mitigating the pro-oxidant state and melanogenesis of Retinitis pigmentosa: by counteracting mitochondrial dysfunction.
Pagano G, Pallardó FV, Lyakhovich A, Tiano L, Trifuoggi M
Cell Mol Life Sci 2021 Dec;78(23):7491-7503. Epub 2021 Oct 31 doi: 10.1007/s00018-021-04007-1. PMID: 34718826Free PMC Article
Cataract surgery in retinitis pigmentosa.
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Regional differences in genes and variants causing retinitis pigmentosa in Japan.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Komori S, Gao D, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH
Jpn J Ophthalmol 2021 May;65(3):338-343. Epub 2021 Feb 25 doi: 10.1007/s10384-021-00824-w. PMID: 33629268
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443
Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.
Kellner U, Stöhr H, Weinitz S, Farmand G, Weber BHF
Ophthalmic Genet 2017 Jul-Aug;38(4):340-344. Epub 2017 Jan 17 doi: 10.1080/13816810.2016.1227459. PMID: 28095071

Diagnosis

Cataract surgery in retinitis pigmentosa.
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Regional differences in genes and variants causing retinitis pigmentosa in Japan.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Komori S, Gao D, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH
Jpn J Ophthalmol 2021 May;65(3):338-343. Epub 2021 Feb 25 doi: 10.1007/s10384-021-00824-w. PMID: 33629268
Optical coherence tomography angiography in primary eye care.
Coffey AM, Hutton EK, Combe L, Bhindi P, Gertig D, Constable PA
Clin Exp Optom 2021 Jan;104(1):3-13. doi: 10.1111/cxo.13068. PMID: 32285493
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443
Neonatal adrenoleukodystrophy.
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O
J Neurol Neurosurg Psychiatry 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. PMID: 2420940Free PMC Article

Therapy

Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.
Cehajic-Kapetanovic J, McClements ME, Whitfield J, Shanks M, Clouston P, MacLaren RE
JAMA Ophthalmol 2020 Nov 1;138(11):1151-1158. doi: 10.1001/jamaophthalmol.2020.3634. PMID: 32970112Free PMC Article
Bionic eye review - An update.
Nowik K, Langwińska-Wośko E, Skopiński P, Nowik KE, Szaflik JP
J Clin Neurosci 2020 Aug;78:8-19. Epub 2020 Jun 19 doi: 10.1016/j.jocn.2020.05.041. PMID: 32571603
A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa.
Zhou Y, Li S, Huang L, Yang Y, Zhang L, Yang M, Liu W, Ramasamy K, Jiang Z, Sundaresan P, Zhu X, Yang Z
Hum Mol Genet 2018 Jul 15;27(14):2563-2572. doi: 10.1093/hmg/ddy165. PMID: 29726989
Validation of a new static perimetric thresholding strategy (GATE).
Luithardt AF, Meisner C, Monhart M, Krapp E, Mast A, Schiefer U
Br J Ophthalmol 2015 Jan;99(1):11-5. Epub 2014 Jul 22 doi: 10.1136/bjophthalmol-2013-304535. PMID: 25053761
Retinal blood flow velocity measured by retinal function imaging in retinitis pigmentosa.
Beutelspacher SC, Serbecic N, Barash H, Burgansky-Eliash Z, Grinvald A, Krastel H, Jonas JB
Graefes Arch Clin Exp Ophthalmol 2011 Dec;249(12):1855-8. Epub 2011 Aug 27 doi: 10.1007/s00417-011-1757-y. PMID: 21874346

Prognosis

Prediction of visual impairment in retinitis pigmentosa using deep learning and multimodal fundus images.
Liu TYA, Ling C, Hahn L, Jones CK, Boon CJ, Singh MS
Br J Ophthalmol 2023 Oct;107(10):1484-1489. Epub 2022 Jul 27 doi: 10.1136/bjo-2021-320897. PMID: 35896367Free PMC Article
Cataract surgery in retinitis pigmentosa.
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.
Verdina T, Greenstein VC, Tsang SH, Murro V, Mucciolo DP, Passerini I, Mastropasqua R, Cavallini GM, Virgili G, Giansanti F, Sodi A
Mol Vis 2021;27:78-94. Epub 2021 Feb 5 PMID: 33688152Free PMC Article
Optical coherence tomography angiography in primary eye care.
Coffey AM, Hutton EK, Combe L, Bhindi P, Gertig D, Constable PA
Clin Exp Optom 2021 Jan;104(1):3-13. doi: 10.1111/cxo.13068. PMID: 32285493
Neonatal adrenoleukodystrophy.
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O
J Neurol Neurosurg Psychiatry 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. PMID: 2420940Free PMC Article

Clinical prediction guides

Prediction of visual impairment in retinitis pigmentosa using deep learning and multimodal fundus images.
Liu TYA, Ling C, Hahn L, Jones CK, Boon CJ, Singh MS
Br J Ophthalmol 2023 Oct;107(10):1484-1489. Epub 2022 Jul 27 doi: 10.1136/bjo-2021-320897. PMID: 35896367Free PMC Article
Cataract surgery in retinitis pigmentosa.
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Regional differences in genes and variants causing retinitis pigmentosa in Japan.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Komori S, Gao D, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH
Jpn J Ophthalmol 2021 May;65(3):338-343. Epub 2021 Feb 25 doi: 10.1007/s10384-021-00824-w. PMID: 33629268
RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features.
Nguyen XT, Talib M, van Schooneveld MJ, Brinks J, Ten Brink J, Florijn RJ, Wijnholds J, Verdijk RM, Bergen AA, Boon CJF
Int J Mol Sci 2020 Jan 28;21(3) doi: 10.3390/ijms21030835. PMID: 32012938Free PMC Article
Nephronophthisis.
Salomon R, Saunier S, Niaudet P
Pediatr Nephrol 2009 Dec;24(12):2333-44. Epub 2008 Jul 8 doi: 10.1007/s00467-008-0840-z. PMID: 18607645Free PMC Article

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      Clinical tests in GTR
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      Related records in OMIM
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      OMIM records containing genes associated with phenotypes registered in MedGen
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