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Retinitis pigmentosa 38(RP38)

MedGen UID:
462578
•Concept ID:
C3151228
•
Disease or Syndrome
Synonyms: ROD-CONE DYSTROPHY, CHILDHOOD-ONSET; RP38
 
Gene (location): MERTK (2q13)
 
Monarch Initiative: MONDO:0013469
OMIM®: 613862

Definition

Retinitis pigmentosa (RP) describes a group of disorders with progressive degeneration of rod and cone photoreceptors in a rod-cone pattern of dysfunction. RP has a prevalence of 1 in 3,500, and is genetically and phenotypically heterogeneous (summary by Mackay et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

Clinical features

From HPO
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
Constriction of peripheral visual field
MedGen UID:
68613
•Concept ID:
C0235095
•
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
See: Feature record | Search on this feature
Macular atrophy
MedGen UID:
140841
•Concept ID:
C0423421
•
Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
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
Progressive visual loss
MedGen UID:
326867
•Concept ID:
C1839364
•
Finding
A reduction of previously attained ability to see.
See: Feature record | Search on this feature
Peripheral retinal atrophy
MedGen UID:
765930
•Concept ID:
C3553016
•
Finding
See: Feature record | Search on this feature
Rod-cone dystrophy
MedGen UID:
1632921
•Concept ID:
C4551714
•
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Inherited retinal disorders: a genotype-phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling.
Gopinath C, Rompicherla R, Mathias GP, Patil R, Poornachandra B, Vinekar A, Mochi TB, Braganza S, Shetty KB, Kumaramanickavel G, Ghosh A
Graefes Arch Clin Exp Ophthalmol 2023 Jul;261(7):2003-2017. Epub 2023 Jan 17 doi: 10.1007/s00417-022-05955-5. PMID: 36648511

Recent clinical studies

Etiology

Functional Vision in Patients With Biallelic USH2A Variants.
Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY; Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol 2024 Apr;260:200-211. Epub 2023 Dec 21 doi: 10.1016/j.ajo.2023.12.009. PMID: 38135239
Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
Martin-Merida I, Avila-Fernandez A, Del Pozo-Valero M, Blanco-Kelly F, Zurita O, Perez-Carro R, Aguilera-Garcia D, Riveiro-Alvarez R, Arteche A, Trujillo-Tiebas MJ, Tahsin-Swafiri S, Rodriguez-Pinilla E, Lorda-Sanchez I, Garcia-Sandoval B, Corton M, Ayuso C
Ophthalmology 2019 Aug;126(8):1181-1188. Epub 2019 Mar 20 doi: 10.1016/j.ophtha.2019.03.018. PMID: 30902645
Photoreceptor cell death mechanisms in inherited retinal degeneration.
Sancho-Pelluz J, Arango-Gonzalez B, Kustermann S, Romero FJ, van Veen T, Zrenner E, Ekström P, Paquet-Durand F
Mol Neurobiol 2008 Dec;38(3):253-69. Epub 2008 Nov 4 doi: 10.1007/s12035-008-8045-9. PMID: 18982459
Paired Bernoulli trials.
Dallal GE
Biometrics 1988 Mar;44(1):253-7. PMID: 3358992

Diagnosis

Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free 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
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
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
Martin-Merida I, Avila-Fernandez A, Del Pozo-Valero M, Blanco-Kelly F, Zurita O, Perez-Carro R, Aguilera-Garcia D, Riveiro-Alvarez R, Arteche A, Trujillo-Tiebas MJ, Tahsin-Swafiri S, Rodriguez-Pinilla E, Lorda-Sanchez I, Garcia-Sandoval B, Corton M, Ayuso C
Ophthalmology 2019 Aug;126(8):1181-1188. Epub 2019 Mar 20 doi: 10.1016/j.ophtha.2019.03.018. PMID: 30902645
Comet Lesions in Retinitis Pigmentosa.
Battaglia Parodi M, Romano F, Bandello F
Retina 2018 Jul;38(7):e46-e47. doi: 10.1097/IAE.0000000000002119. PMID: 29470309

Therapy

AAV-RPGR Gene Therapy Rescues Opsin Mislocalisation in a Human Retinal Organoid Model of RPGR-Associated X-Linked Retinitis Pigmentosa.
Sladen PE, Naeem A, Adefila-Ideozu T, Vermeule T, Busson SL, Michaelides M, Naylor S, Forbes A, Lane A, Georgiadis A
Int J Mol Sci 2024 Feb 2;25(3) doi: 10.3390/ijms25031839. PMID: 38339118Free PMC Article
Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Retinal capillaritis in a CRB1-associated retinal dystrophy.
Murro V, Mucciolo DP, Sodi A, Vannozzi L, De Libero C, Simonini G, Rizzo S
Ophthalmic Genet 2017 Dec;38(6):555-558. Epub 2017 Jan 27 doi: 10.1080/13816810.2017.1281966. PMID: 28129017
The aetiology of optic atrophy in Nigerians--a general hospital clinic study.
Oluleye TS, Ajaiyeoba AI, Fafowora OF, Olusanya BA
Int J Clin Pract 2005 Aug;59(8):950-2. doi: 10.1111/j.1742-1241.2005.00541.x. PMID: 16033618
Nutrition and retina.
Schmidt-Erfurth U
Dev Ophthalmol 2005;38:120-147. doi: 10.1159/000082772. PMID: 15604621

Prognosis

Exosomes and alpha-synuclein within retina from autophagy to protein spreading in neurodegeneration.
Pinelli R, Bertelli M, Scaffidi E, Busceti CL, Biagioni F, Fornai F
Arch Ital Biol 2021 Mar 31;159(1):38-50. doi: 10.12871/00039829202114. PMID: 34159576
Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.
Georgiou M, Grewal PS, Narayan A, Alser M, Ali N, Fujinami K, Webster AR, Michaelides M
Am J Ophthalmol 2021 Jan;221:299-310. Epub 2020 Aug 12 doi: 10.1016/j.ajo.2020.08.004. PMID: 32795431Free PMC Article
Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa.
Sugahara M, Oishi M, Oishi A, Ogino K, Morooka S, Gotoh N, Kang I, Yoshimura N
Ophthalmic Genet 2017 Jan-Feb;38(1):70-73. Epub 2016 Mar 30 doi: 10.3109/13816810.2015.1136336. PMID: 27028480
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM
Mol Vis 2010 Mar 23;16:495-500. PMID: 20352026Free PMC Article
Causes of blindness and partial sight in the Bradford Metropolitan District from 1980 to 1985.
Yap M, Weatherill J
Ophthalmic Physiol Opt 1989 Jul;9(3):289-92. doi: 10.1111/j.1475-1313.1989.tb00908.x. PMID: 2622670

Clinical prediction guides

Functional Vision in Patients With Biallelic USH2A Variants.
Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY; Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol 2024 Apr;260:200-211. Epub 2023 Dec 21 doi: 10.1016/j.ajo.2023.12.009. PMID: 38135239
Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review.
Viering DHHM, Vermeltfoort L, Bindels RJM, Deinum J, de Baaij JHF
J Am Soc Nephrol 2023 Nov 1;34(11):1875-1888. Epub 2023 Sep 6 doi: 10.1681/ASN.0000000000000224. PMID: 37678265Free PMC Article
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 Phenotype of PDE6B-Associated Retinitis Pigmentosa.
Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S
Int J Mol Sci 2021 Feb 27;22(5) doi: 10.3390/ijms22052374. PMID: 33673512Free PMC Article
Stemming retinal regeneration with pluripotent stem cells.
Jin ZB, Gao ML, Deng WL, Wu KC, Sugita S, Mandai M, Takahashi M
Prog Retin Eye Res 2019 Mar;69:38-56. Epub 2018 Nov 9 doi: 10.1016/j.preteyeres.2018.11.003. PMID: 30419340

Recent systematic reviews

Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review.
Viering DHHM, Vermeltfoort L, Bindels RJM, Deinum J, de Baaij JHF
J Am Soc Nephrol 2023 Nov 1;34(11):1875-1888. Epub 2023 Sep 6 doi: 10.1681/ASN.0000000000000224. PMID: 37678265Free PMC Article
Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.
Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free PMC Article
Non-invasive current stimulation in vision recovery: a review of the literature.
Perin C, Viganò B, Piscitelli D, Matteo BM, Meroni R, Cerri CG
Restor Neurol Neurosci 2020;38(3):239-250. doi: 10.3233/RNN-190948. PMID: 31884495Free PMC Article

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