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Retinitis pigmentosa 38(RP38)

MedGen UID:
462578
Concept ID:
C3151228
Disease or Syndrome
Synonyms: ROD-CONE DYSTROPHY, CHILDHOOD-ONSET; RP38
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): MERTK (2q13)
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
An inability to see clearly in dim light; due to a deficiency of vitamin A or to a retinal disorder.
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.
Macular atrophy
MedGen UID:
266204
Concept ID:
C1288283
Disease or Syndrome
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
Progressive visual loss
MedGen UID:
479327
Concept ID:
C3277697
Finding
A reduction of previously attained ability to see.
Peripheral retinal atrophy
MedGen UID:
765930
Concept ID:
C3553016
Finding
Rod-cone dystrophy
MedGen UID:
892740
Concept ID:
C4072872
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

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
Mansour AM, Sheheitli H, Kucukerdonmez C, Sisk RA, Moura R, Moschos MM, Lima LH, Al-Shaar L, Arevalo JF, Maia M, Foster RE, Kayikcioglu O, Kozak I, Kurup S, Zegarra H, Gallego-Pinazo R, Hamam RN, Bejjani RA, Cinar E, Erakgün ET, Kimura A, Teixeira A
Retina 2018 Feb;38(2):416-423. doi: 10.1097/IAE.0000000000001542. PMID: 28221257
Rita Machado A, Carvalho Pereira A, Ferreira F, Ferreira S, Quendera B, Silva E, Castelo-Branco M
Sci Rep 2017 Sep 12;7(1):11411. doi: 10.1038/s41598-017-11317-7. PMID: 28900214Free PMC Article
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
Warwick AN, Shawkat F, Lotery AJ
Ophthalmic Genet 2017 Mar-Apr;38(2):178-182. Epub 2016 May 13 doi: 10.1080/13816810.2016.1183215. PMID: 27176872

Diagnosis

Mansour AM, Sheheitli H, Kucukerdonmez C, Sisk RA, Moura R, Moschos MM, Lima LH, Al-Shaar L, Arevalo JF, Maia M, Foster RE, Kayikcioglu O, Kozak I, Kurup S, Zegarra H, Gallego-Pinazo R, Hamam RN, Bejjani RA, Cinar E, Erakgün ET, Kimura A, Teixeira A
Retina 2018 Feb;38(2):416-423. doi: 10.1097/IAE.0000000000001542. PMID: 28221257
Totan Y, Güler E, Yüce A, Dervişogulları MS
Indian J Ophthalmol 2017 Oct;65(10):984-988. doi: 10.4103/ijo.IJO_978_16. PMID: 29044065Free PMC Article
Rita Machado A, Carvalho Pereira A, Ferreira F, Ferreira S, Quendera B, Silva E, Castelo-Branco M
Sci Rep 2017 Sep 12;7(1):11411. doi: 10.1038/s41598-017-11317-7. PMID: 28900214Free PMC Article
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
Warwick AN, Shawkat F, Lotery AJ
Ophthalmic Genet 2017 Mar-Apr;38(2):178-182. Epub 2016 May 13 doi: 10.1080/13816810.2016.1183215. PMID: 27176872

Therapy

Arslan U, Özmert E, Demirel S, Örnek F, Şermet F
Graefes Arch Clin Exp Ophthalmol 2018 May;256(5):893-908. Epub 2018 Mar 15 doi: 10.1007/s00417-018-3953-5. PMID: 29546474
Eksioglu U, Oktem C, Sungur G, Yakin M, Demirok G, Ornek F
Int Ophthalmol 2018 Oct;38(5):1833-1838. Epub 2017 Jul 21 doi: 10.1007/s10792-017-0657-5. PMID: 28733929
Campos Polo R, Rubio Sánchez C, García Guisado DM, Díaz Luque MJ
Arch Soc Esp Oftalmol 2018 Jan;93(1):38-41. Epub 2017 Jun 16 doi: 10.1016/j.oftal.2017.05.002. PMID: 28624313
Mansour AM, Sheheitli H, Kucukerdonmez C, Sisk RA, Moura R, Moschos MM, Lima LH, Al-Shaar L, Arevalo JF, Maia M, Foster RE, Kayikcioglu O, Kozak I, Kurup S, Zegarra H, Gallego-Pinazo R, Hamam RN, Bejjani RA, Cinar E, Erakgün ET, Kimura A, Teixeira A
Retina 2018 Feb;38(2):416-423. doi: 10.1097/IAE.0000000000001542. PMID: 28221257
Warwick AN, Shawkat F, Lotery AJ
Ophthalmic Genet 2017 Mar-Apr;38(2):178-182. Epub 2016 May 13 doi: 10.1080/13816810.2016.1183215. PMID: 27176872

Prognosis

Eksioglu U, Oktem C, Sungur G, Yakin M, Demirok G, Ornek F
Int Ophthalmol 2018 Oct;38(5):1833-1838. Epub 2017 Jul 21 doi: 10.1007/s10792-017-0657-5. PMID: 28733929
Mansour AM, Sheheitli H, Kucukerdonmez C, Sisk RA, Moura R, Moschos MM, Lima LH, Al-Shaar L, Arevalo JF, Maia M, Foster RE, Kayikcioglu O, Kozak I, Kurup S, Zegarra H, Gallego-Pinazo R, Hamam RN, Bejjani RA, Cinar E, Erakgün ET, Kimura A, Teixeira A
Retina 2018 Feb;38(2):416-423. doi: 10.1097/IAE.0000000000001542. PMID: 28221257
Totan Y, Güler E, Yüce A, Dervişogulları MS
Indian J Ophthalmol 2017 Oct;65(10):984-988. doi: 10.4103/ijo.IJO_978_16. PMID: 29044065Free PMC Article
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
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

Clinical prediction guides

Arslan U, Özmert E, Demirel S, Örnek F, Şermet F
Graefes Arch Clin Exp Ophthalmol 2018 May;256(5):893-908. Epub 2018 Mar 15 doi: 10.1007/s00417-018-3953-5. PMID: 29546474
Totan Y, Güler E, Yüce A, Dervişogulları MS
Indian J Ophthalmol 2017 Oct;65(10):984-988. doi: 10.4103/ijo.IJO_978_16. PMID: 29044065Free PMC Article
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
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
Birch DG, Locke KG, Felius J, Klein M, Wheaton DK, Hoffman DR, Hood DC
Ophthalmology 2015 Apr;122(4):833-9. Epub 2014 Dec 31 doi: 10.1016/j.ophtha.2014.11.005. PMID: 25556114Free PMC Article

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