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Retinitis pigmentosa 65(RP65)

MedGen UID:
765766
•Concept ID:
C3552852
•
Disease or Syndrome
Synonym: RP65
 
Monarch Initiative: MONDO:0800352
OMIM®: 609502; 613660

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M, Kjellström S, Andréasson S, Öhberg A, Gränse L, Kjellström U
Genes (Basel) 2023 Jul 8;14(7) doi: 10.3390/genes14071413. PMID: 37510321Free PMC Article
Prevalence of primary angle-closure disease in retinitis pigmentosa.
Pradhan ZS, Shroff S, Bansod A, Poornachandra B, Shetty A, Devi S, Rao DAS, Puttaiah NK, Rao HL
Indian J Ophthalmol 2022 Jul;70(7):2449-2451. doi: 10.4103/ijo.IJO_3189_21. PMID: 35791130Free PMC Article
Response to Drs. Shastry and Trese: phenotype-genotype correlations in X-linked retinitis pigmentosa.
Kaplan J, Munnich A
Am J Med Genet 1996 Nov 11;65(4):367. doi: 10.1002/(SICI)1096-8628(19961111)65:4<367::AID-AJMG29>3.0.CO;2-R. PMID: 8923955

Recent clinical studies

Etiology

Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities.
Schneider N, Sundaresan Y, Gopalakrishnan P, Beryozkin A, Hanany M, Levanon EY, Banin E, Ben-Aroya S, Sharon D
Prog Retin Eye Res 2022 Jul;89:101029. Epub 2021 Nov 25 doi: 10.1016/j.preteyeres.2021.101029. PMID: 34839010
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa.
Gao FJ, Li JK, Chen H, Hu FY, Zhang SH, Qi YH, Xu P, Wang DD, Wang LS, Chang Q, Zhang YJ, Liu W, Li W, Wang M, Chen F, Xu GZ, Wu JH
Ophthalmology 2019 Nov;126(11):1549-1556. Epub 2019 May 1 doi: 10.1016/j.ophtha.2019.04.038. PMID: 31054281
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y
Invest Ophthalmol Vis Sci 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. PMID: 26780318
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL
J Med Genet 2010 Jul;47(7):499-506. Epub 2010 May 27 doi: 10.1136/jmg.2009.075143. PMID: 20507924Free PMC Article

Diagnosis

The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S, El-Amraoui A
Hum Genet 2022 Apr;141(3-4):709-735. Epub 2022 Mar 30 doi: 10.1007/s00439-022-02448-7. PMID: 35353227Free PMC Article
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH
J Med Genet 2019 Oct;56(10):662-670. Epub 2019 Jun 17 doi: 10.1136/jmedgenet-2018-105691. PMID: 31213501
Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa.
Gao FJ, Li JK, Chen H, Hu FY, Zhang SH, Qi YH, Xu P, Wang DD, Wang LS, Chang Q, Zhang YJ, Liu W, Li W, Wang M, Chen F, Xu GZ, Wu JH
Ophthalmology 2019 Nov;126(11):1549-1556. Epub 2019 May 1 doi: 10.1016/j.ophtha.2019.04.038. PMID: 31054281
Pericentral retinal dystrophy.
Grøndahl J
Acta Ophthalmol (Copenh) 1987 Jun;65(3):344-51. doi: 10.1111/j.1755-3768.1987.tb08517.x. PMID: 3618160

Therapy

Retinitis Pigmentosa and Therapeutic Candidates.
Livingston CA, Weng CY, Chancellor JR
Int Ophthalmol Clin 2025 Jan 1;65(1):17-21. Epub 2024 Dec 23 doi: 10.1097/IIO.0000000000000542. PMID: 39710900
Corneal characteristics in patients with retinitis pigmentosa.
Zeki Fikret C, Ucgun NI, Karaca EE, Evren Kemer O
Photodiagnosis Photodyn Ther 2023 Jun;42:103554. Epub 2023 Apr 6 doi: 10.1016/j.pdpdt.2023.103554. PMID: 37030435
Identifying and Overcoming Challenges in Developing Effective Treatments for Usher 1B: A Workshop Report.
Boye SE, Durham T, Laster A, Gelfman CM, Sahel JA
Transl Vis Sci Technol 2023 Feb 1;12(2):2. doi: 10.1167/tvst.12.2.2. PMID: 36723965Free PMC Article
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article
Nerve Growth Factor: A Focus on Neuroscience and Therapy.
Aloe L, Rocco ML, Balzamino BO, Micera A
Curr Neuropharmacol 2015;13(3):294-303. doi: 10.2174/1570159x13666150403231920. PMID: 26411962Free PMC Article

Prognosis

A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M, Kjellström S, Andréasson S, Öhberg A, Gränse L, Kjellström U
Genes (Basel) 2023 Jul 8;14(7) doi: 10.3390/genes14071413. PMID: 37510321Free PMC Article
Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK
Ophthalmic Genet 2023 Aug;44(4):352-360. Epub 2023 Apr 4 doi: 10.1080/13816810.2023.2196338. PMID: 37013444
Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations.
Poli G, Barravecchia I, Demontis GC, Sodi A, Saba A, Rizzo S, Macchia M, Tuccinardi T
J Enzyme Inhib Med Chem 2022 Dec;37(1):1765-1772. doi: 10.1080/14756366.2022.2090547. PMID: 35726567Free PMC Article
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y
Invest Ophthalmol Vis Sci 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. PMID: 26780318
Pericentral retinal dystrophy.
Grøndahl J
Acta Ophthalmol (Copenh) 1987 Jun;65(3):344-51. doi: 10.1111/j.1755-3768.1987.tb08517.x. PMID: 3618160

Clinical prediction guides

Environmental Light Has an Essential Effect on the Disease Expression in a Dominant RPE65 Mutation.
Wu W, Takahashi Y, Ma X, Moiseyev G, Ma JX
Adv Exp Med Biol 2023;1415:415-419. doi: 10.1007/978-3-031-27681-1_61. PMID: 37440066
Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK
Ophthalmic Genet 2023 Aug;44(4):352-360. Epub 2023 Apr 4 doi: 10.1080/13816810.2023.2196338. PMID: 37013444
Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations.
Poli G, Barravecchia I, Demontis GC, Sodi A, Saba A, Rizzo S, Macchia M, Tuccinardi T
J Enzyme Inhib Med Chem 2022 Dec;37(1):1765-1772. doi: 10.1080/14756366.2022.2090547. PMID: 35726567Free PMC Article
Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.
Dong L, He W, Zhang R, Ge Z, Wang YX, Zhou J, Xu J, Shao L, Wang Q, Yan Y, Xie Y, Fang L, Wang H, Wang Y, Zhu X, Wang J, Zhang C, Wang H, Wang Y, Chen R, Wan Q, Yang J, Zhou W, Li H, Yao X, Yang Z, Xiong J, Wang X, Huang Y, Chen Y, Wang Z, Rong C, Gao J, Zhang H, Wu S, Jonas JB, Wei WB
JAMA Netw Open 2022 May 2;5(5):e229960. doi: 10.1001/jamanetworkopen.2022.9960. PMID: 35503220Free PMC Article
Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities.
Schneider N, Sundaresan Y, Gopalakrishnan P, Beryozkin A, Hanany M, Levanon EY, Banin E, Ben-Aroya S, Sharon D
Prog Retin Eye Res 2022 Jul;89:101029. Epub 2021 Nov 25 doi: 10.1016/j.preteyeres.2021.101029. PMID: 34839010

Recent systematic reviews

Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.
Junior JHMF, Junior SP, Pustilnik HN, de Almeida Leão L, da Paz MGDS, Araujo TB, de Deus FOG, Alcântara T, Dourado JC, de Avellar LM
Childs Nerv Syst 2024 Jul;40(7):2161-2168. Epub 2024 Mar 9 doi: 10.1007/s00381-024-06346-3. PMID: 38459147
The use of augmented reality and virtual reality for visual field expansion and visual acuity improvement in low vision rehabilitation: a systematic review.
Pur DR, Lee-Wing N, Bona MD
Graefes Arch Clin Exp Ophthalmol 2023 Jun;261(6):1743-1755. Epub 2023 Jan 12 doi: 10.1007/s00417-022-05972-4. PMID: 36633669
Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.
Sallum JMF, Kaur VP, Shaikh J, Banhazi J, Spera C, Aouadj C, Viriato D, Fischer MD
Adv Ther 2022 Mar;39(3):1179-1198. Epub 2022 Jan 30 doi: 10.1007/s12325-021-02036-7. PMID: 35098484Free PMC Article
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article
Systematic review and meta-synthesis of coping with retinitis pigmentosa: implications for improving quality of life.
Garip G, Kamal A
BMC Ophthalmol 2019 Aug 13;19(1):181. doi: 10.1186/s12886-019-1169-z. PMID: 31409325Free PMC Article

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