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Retinitis pigmentosa 45(RP45)

MedGen UID:
462416
Concept ID:
C3151066
Disease or Syndrome
Synonyms: RP45
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): CNGB1 (16q21)
OMIM®: 613767

Authors:
Abigail T Fahim  |  Stephen P Daiger  |  Richard G Weleber   view full author information

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.
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.
Peripheral visual field loss
MedGen UID:
116124
Concept ID:
C0241688
Finding
Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
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

Sousa K, Fernandes T, Gentil R, Mendonça L, Falcão M
Graefes Arch Clin Exp Ophthalmol 2019 Feb;257(2):265-271. Epub 2018 Nov 19 doi: 10.1007/s00417-018-4185-4. PMID: 30456418
Maeda A, Yoshida A, Kawai K, Arai Y, Akiba R, Inaba A, Takagi S, Fujiki R, Hirami Y, Kurimoto Y, Ohara O, Takahashi M
Jpn J Ophthalmol 2018 Jul;62(4):451-457. Epub 2018 May 21 doi: 10.1007/s10384-018-0601-x. PMID: 29785639
Dutta Majumder P, Menia N, Roy R, Sen P, E George A, K Ganesh S, Biswas J
Ocul Immunol Inflamm 2018;26(8):1283-1288. Epub 2017 Sep 29 doi: 10.1080/09273948.2017.1348527. PMID: 28960116
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
Mathijssen IB, Florijn RJ, van den Born LI, Zekveld-Vroon RC, Ten Brink JB, Plomp AS, Baas F, Meijers-Heijboer H, Bergen AA, van Schooneveld MJ
Retina 2017 Jan;37(1):161-172. doi: 10.1097/IAE.0000000000001127. PMID: 27380427

Diagnosis

Sousa K, Fernandes T, Gentil R, Mendonça L, Falcão M
Graefes Arch Clin Exp Ophthalmol 2019 Feb;257(2):265-271. Epub 2018 Nov 19 doi: 10.1007/s00417-018-4185-4. PMID: 30456418
Maeda A, Yoshida A, Kawai K, Arai Y, Akiba R, Inaba A, Takagi S, Fujiki R, Hirami Y, Kurimoto Y, Ohara O, Takahashi M
Jpn J Ophthalmol 2018 Jul;62(4):451-457. Epub 2018 May 21 doi: 10.1007/s10384-018-0601-x. PMID: 29785639
Dysli C, Schürch K, Pascal E, Wolf S, Zinkernagel MS
Invest Ophthalmol Vis Sci 2018 Apr 1;59(5):1769-1778. doi: 10.1167/iovs.17-23336. PMID: 29610860
Zhou Q, Yao F, Wang F, Li H, Chen R, Sui R
Am J Med Genet A 2018 Jan;176(1):214-218. Epub 2017 Nov 14 doi: 10.1002/ajmg.a.38501. PMID: 29135076
Dutta Majumder P, Menia N, Roy R, Sen P, E George A, K Ganesh S, Biswas J
Ocul Immunol Inflamm 2018;26(8):1283-1288. Epub 2017 Sep 29 doi: 10.1080/09273948.2017.1348527. PMID: 28960116

Therapy

Dutta Majumder P, Menia N, Roy R, Sen P, E George A, K Ganesh S, Biswas J
Ocul Immunol Inflamm 2018;26(8):1283-1288. Epub 2017 Sep 29 doi: 10.1080/09273948.2017.1348527. PMID: 28960116
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
Hariri AH, Zhang HY, Ho A, Francis P, Weleber RG, Birch DG, Ferris FL 3rd, Sadda SR; Trial of Oral Valproic Acid for Retinitis Pigmentosa Group.
JAMA Ophthalmol 2016 Jun 1;134(6):628-35. doi: 10.1001/jamaophthalmol.2016.0502. PMID: 27031504Free PMC Article
Enzsoly A, Kammerer K, Nemeth J, Schneider M
BMC Ophthalmol 2015 Mar 29;15:32. doi: 10.1186/s12886-015-0020-4. PMID: 25885440Free PMC Article
Ahn SJ, Kim KE, Woo SJ, Park KH
Ophthalmic Surg Lasers Imaging Retina 2014 Mar-Apr;45(2):160-4. Epub 2014 Feb 7 doi: 10.3928/23258160-20140131-03. PMID: 24506098

Prognosis

Sousa K, Fernandes T, Gentil R, Mendonça L, Falcão M
Graefes Arch Clin Exp Ophthalmol 2019 Feb;257(2):265-271. Epub 2018 Nov 19 doi: 10.1007/s00417-018-4185-4. PMID: 30456418
Mao J, Fang D, Chen Y, Tao J, Wu M, Wu S, Wang P, Zhang Y, Shen L
Ophthalmic Surg Lasers Imaging Retina 2018 Aug 1;49(8):587-594. doi: 10.3928/23258160-20180803-06. PMID: 30114303
Maeda A, Yoshida A, Kawai K, Arai Y, Akiba R, Inaba A, Takagi S, Fujiki R, Hirami Y, Kurimoto Y, Ohara O, Takahashi M
Jpn J Ophthalmol 2018 Jul;62(4):451-457. Epub 2018 May 21 doi: 10.1007/s10384-018-0601-x. PMID: 29785639
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
Mathijssen IB, Florijn RJ, van den Born LI, Zekveld-Vroon RC, Ten Brink JB, Plomp AS, Baas F, Meijers-Heijboer H, Bergen AA, van Schooneveld MJ
Retina 2017 Jan;37(1):161-172. doi: 10.1097/IAE.0000000000001127. PMID: 27380427

Clinical prediction guides

Sousa K, Fernandes T, Gentil R, Mendonça L, Falcão M
Graefes Arch Clin Exp Ophthalmol 2019 Feb;257(2):265-271. Epub 2018 Nov 19 doi: 10.1007/s00417-018-4185-4. PMID: 30456418
Mao J, Fang D, Chen Y, Tao J, Wu M, Wu S, Wang P, Zhang Y, Shen L
Ophthalmic Surg Lasers Imaging Retina 2018 Aug 1;49(8):587-594. doi: 10.3928/23258160-20180803-06. PMID: 30114303
Mathijssen IB, Florijn RJ, van den Born LI, Zekveld-Vroon RC, Ten Brink JB, Plomp AS, Baas F, Meijers-Heijboer H, Bergen AA, van Schooneveld MJ
Retina 2017 Jan;37(1):161-172. doi: 10.1097/IAE.0000000000001127. PMID: 27380427
Hariri AH, Zhang HY, Ho A, Francis P, Weleber RG, Birch DG, Ferris FL 3rd, Sadda SR; Trial of Oral Valproic Acid for Retinitis Pigmentosa Group.
JAMA Ophthalmol 2016 Jun 1;134(6):628-35. doi: 10.1001/jamaophthalmol.2016.0502. PMID: 27031504Free PMC Article
Sujirakul T, Lin MK, Duong J, Wei Y, Lopez-Pintado S, Tsang SH
Am J Ophthalmol 2015 Oct;160(4):786-98.e4. Epub 2015 Jul 9 doi: 10.1016/j.ajo.2015.06.032. PMID: 26164827Free PMC Article

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