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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
Nyctalopia
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 disk (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

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
Retinitis pigmentosa-associated anterior subcapsular cataract: morphological features and visual performance.
Hou M, Bao X, Liu L, Ding Y, Luo F, Wu M
Int Ophthalmol 2021 Nov;41(11):3631-3639. Epub 2021 Jun 27 doi: 10.1007/s10792-021-01935-6. PMID: 34180018
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
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
Time and frequency components of ERG responses in retinitis pigmentosa.
Ebdali S, Hashemi B, Hashemi H, Jafarzadehpur E, Asgari S
Int Ophthalmol 2018 Dec;38(6):2435-2444. Epub 2017 Nov 30 doi: 10.1007/s10792-017-0748-3. PMID: 29189947

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
Bardet-Biedl syndrome: a case series.
Elawad OAMA, Dafallah MA, Ahmed MMM, Albashir AAD, Abdalla SMA, Yousif HHM, Daw Elbait AAE, Mohammed ME, Ali HIH, Ahmed MMM, Mohammed NFN, Osman FHM, Mohammed MAY, Abu Shama EAE
J Med Case Rep 2022 Apr 29;16(1):169. doi: 10.1186/s13256-022-03396-6. PMID: 35484558Free PMC Article
Retinitis pigmentosa-associated anterior subcapsular cataract: morphological features and visual performance.
Hou M, Bao X, Liu L, Ding Y, Luo F, Wu M
Int Ophthalmol 2021 Nov;41(11):3631-3639. Epub 2021 Jun 27 doi: 10.1007/s10792-021-01935-6. PMID: 34180018
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

Therapy

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
TRANSCORNEAL ELECTRICAL STIMULATION THERAPY MAY HAVE A STABILIZATION EFFECT ON MULTIFOCAL ELECTRORETINOGRAPHY FOR PATIENTS WITH RETINITIS PIGMENTOSA.
Dizdar Yigit D, Sevik MO, Şahin Ö
Retina 2022 May 1;42(5):923-933. doi: 10.1097/IAE.0000000000003386. PMID: 34923514
Effects of lutein and zeaxanthin on aspects of eye health.
Ma L, Lin XM
J Sci Food Agric 2010 Jan 15;90(1):2-12. doi: 10.1002/jsfa.3785. PMID: 20355006
Nutrition and retina.
Schmidt-Erfurth U
Dev Ophthalmol 2005;38:120-147. doi: 10.1159/000082772. PMID: 15604621
Preimplantation polar body diagnosis.
Verlinsky Y, Kuliev A
Biochem Mol Med 1996 Jun;58(1):13-7. doi: 10.1006/bmme.1996.0026. PMID: 8809340

Prognosis

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
Mesenchymal stem cell surgery, rescue and regeneration in retinitis pigmentosa: clinical and rehabilitative prognostic aspects.
Limoli PG, Limoli CSS, Morales MU, Vingolo EM
Restor Neurol Neurosci 2020;38(3):223-237. doi: 10.3233/RNN-190970. PMID: 32310198Free PMC Article
Impact of Retinitis Pigmentosa on Quality of Life, Mental Health, and Employment Among Young Adults.
Chaumet-Riffaud AE, Chaumet-Riffaud P, Cariou A, Devisme C, Audo I, Sahel JA, Mohand-Said S
Am J Ophthalmol 2017 May;177:169-174. Epub 2017 Feb 22 doi: 10.1016/j.ajo.2017.02.016. PMID: 28237413
Systemic disorders and their influence on the development of dental hard tissues: a literature review.
Atar M, Körperich EJ
J Dent 2010 Apr;38(4):296-306. Epub 2010 Jan 13 doi: 10.1016/j.jdent.2009.12.001. PMID: 20004698
Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway.
Grøndahl J
Clin Genet 1987 Apr;31(4):255-64. doi: 10.1111/j.1399-0004.1987.tb02804.x. PMID: 3594933

Clinical prediction guides

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
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
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
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
Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease.
Humphries P, Farrar GJ, Kenna P, McWilliam P
Clin Genet 1990 Jul;38(1):1-13. doi: 10.1111/j.1399-0004.1990.tb03541.x. PMID: 2201466

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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