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Macular degeneration, X-linked atrophic(RPGR)

MedGen UID:
463134
•Concept ID:
C3151784
•
Disease or Syndrome
Synonym: RPGR
 
Gene (location): RPGR (Xp11.4)
 
Monarch Initiative: MONDO:0010443
OMIM®: 300834

Clinical features

From HPO
Macular degeneration
MedGen UID:
7434
•Concept ID:
C0024437
•
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
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

Professional guidelines

PubMed

Topical Atropine for Childhood Myopia Control: The Atropine Treatment Long-Term Assessment Study.
Li Y, Yip M, Ning Y, Chung J, Toh A, Leow C, Liu N, Ting D, Schmetterer L, Saw SM, Jonas JB, Chia A, Ang M
JAMA Ophthalmol 2024 Jan 1;142(1):15-23. doi: 10.1001/jamaophthalmol.2023.5467. PMID: 38019503Free PMC Article
Treatment of cystic macular lesions in hereditary retinal dystrophies.
Salvatore S, Fishman GA, Genead MA
Surv Ophthalmol 2013 Nov-Dec;58(6):560-84. doi: 10.1016/j.survophthal.2012.11.006. PMID: 24160730
RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.
Ruddle JB, Ebenezer ND, Kearns LS, Mulhall LE, Mackey DA, Hardcastle AJ
Br J Ophthalmol 2009 Sep;93(9):1151-4. Epub 2009 May 7 doi: 10.1136/bjo.2008.153908. PMID: 19429592

Recent clinical studies

Etiology

Choroidal neovascularisation secondary toX-linked retinoschisis.
Zhang L, Liu X, Sun L, Zhou X, Ke S, Ding X
Br J Ophthalmol 2024 Oct 22;108(11):1564-1570. doi: 10.1136/bjo-2023-324165. PMID: 38811052
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.
Xiao S, Sun W, Xiao X, Li S, Luo H, Jia X, Ouyang J, Li X, Wang Y, Jiang Y, Wang P, Zhang Q
Br J Ophthalmol 2023 Mar;107(3):367-372. Epub 2021 Oct 13 doi: 10.1136/bjophthalmol-2021-319668. PMID: 34645606
X-Linked Retinoschisis: Deep Phenotyping and Genetic Characterization.
Georgiou M, Finocchio L, Fujinami K, Fujinami-Yokokawa Y, Virgili G, Mahroo OA, Webster AR, Michaelides M
Ophthalmology 2022 May;129(5):542-551. Epub 2021 Nov 23 doi: 10.1016/j.ophtha.2021.11.019. PMID: 34822951
Long-term follow-up of a CRB1-associated maculopathy.
Mucciolo DP, Murro V, Giorgio D, Passerini I, Sodi A, Virgili G, Rizzo S
Ophthalmic Genet 2018 Aug;39(4):522-525. Epub 2018 Jun 5 doi: 10.1080/13816810.2018.1479431. PMID: 29869924

Diagnosis

Non-vasogenic cystoid maculopathies.
Gaudric A, Audo I, Vignal C, Couturier A, Boulanger-Scemama É, Tadayoni R, Cohen SY
Prog Retin Eye Res 2022 Nov;91:101092. Epub 2022 Aug 1 doi: 10.1016/j.preteyeres.2022.101092. PMID: 35927124
Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis.
Cheng Z, Hagan R, Yeo DCM
Ophthalmic Genet 2022 Apr;43(2):253-257. Epub 2021 Nov 16 doi: 10.1080/13816810.2021.1998551. PMID: 34783605
Atypical choroideremia presenting with early-onset macular atrophy.
Kontos G, Kwan J, Xue K, Patrício MI, Clouston P, Packham E, MacLaren RE, Downes SM
Acta Ophthalmol 2019 Sep;97(6):633-636. Epub 2019 Jan 28 doi: 10.1111/aos.14025. PMID: 30690895
Treatment of cystic macular lesions in hereditary retinal dystrophies.
Salvatore S, Fishman GA, Genead MA
Surv Ophthalmol 2013 Nov-Dec;58(6):560-84. doi: 10.1016/j.survophthal.2012.11.006. PMID: 24160730
Color vision defects in retinitis pigmentosa.
Fishman GA, Young RS, Vasquez V, Lourenço P
Ann Ophthalmol 1981 May;13(5):609-18. PMID: 6973307

Therapy

Choroidal neovascularisation secondary toX-linked retinoschisis.
Zhang L, Liu X, Sun L, Zhou X, Ke S, Ding X
Br J Ophthalmol 2024 Oct 22;108(11):1564-1570. doi: 10.1136/bjo-2023-324165. PMID: 38811052
Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP
Mol Ther 2021 Feb 3;29(2):464-488. Epub 2020 Dec 10 doi: 10.1016/j.ymthe.2020.12.007. PMID: 33309881Free PMC Article
Treatment of cystic macular lesions in hereditary retinal dystrophies.
Salvatore S, Fishman GA, Genead MA
Surv Ophthalmol 2013 Nov-Dec;58(6):560-84. doi: 10.1016/j.survophthal.2012.11.006. PMID: 24160730

Prognosis

Choroidal neovascularisation secondary toX-linked retinoschisis.
Zhang L, Liu X, Sun L, Zhou X, Ke S, Ding X
Br J Ophthalmol 2024 Oct 22;108(11):1564-1570. doi: 10.1136/bjo-2023-324165. PMID: 38811052
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
X-Linked Retinoschisis: Deep Phenotyping and Genetic Characterization.
Georgiou M, Finocchio L, Fujinami K, Fujinami-Yokokawa Y, Virgili G, Mahroo OA, Webster AR, Michaelides M
Ophthalmology 2022 May;129(5):542-551. Epub 2021 Nov 23 doi: 10.1016/j.ophtha.2021.11.019. PMID: 34822951
Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis.
Cheng Z, Hagan R, Yeo DCM
Ophthalmic Genet 2022 Apr;43(2):253-257. Epub 2021 Nov 16 doi: 10.1080/13816810.2021.1998551. PMID: 34783605
Juvenile-onset macular degeneration and allied disorders.
North V, Gelman R, Tsang SH
Dev Ophthalmol 2014;53:44-52. Epub 2014 Apr 10 doi: 10.1159/000357293. PMID: 24732760Free PMC Article

Clinical prediction guides

Choroidal neovascularisation secondary toX-linked retinoschisis.
Zhang L, Liu X, Sun L, Zhou X, Ke S, Ding X
Br J Ophthalmol 2024 Oct 22;108(11):1564-1570. doi: 10.1136/bjo-2023-324165. PMID: 38811052
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.
Xiao S, Sun W, Xiao X, Li S, Luo H, Jia X, Ouyang J, Li X, Wang Y, Jiang Y, Wang P, Zhang Q
Br J Ophthalmol 2023 Mar;107(3):367-372. Epub 2021 Oct 13 doi: 10.1136/bjophthalmol-2021-319668. PMID: 34645606
X-Linked Retinoschisis: Deep Phenotyping and Genetic Characterization.
Georgiou M, Finocchio L, Fujinami K, Fujinami-Yokokawa Y, Virgili G, Mahroo OA, Webster AR, Michaelides M
Ophthalmology 2022 May;129(5):542-551. Epub 2021 Nov 23 doi: 10.1016/j.ophtha.2021.11.019. PMID: 34822951
Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis.
Cheng Z, Hagan R, Yeo DCM
Ophthalmic Genet 2022 Apr;43(2):253-257. Epub 2021 Nov 16 doi: 10.1080/13816810.2021.1998551. PMID: 34783605

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