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Retinitis pigmentosa 39(RP39)

MedGen UID:
462488
Concept ID:
C3151138
Disease or Syndrome
Synonyms: RP39
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).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): USH2A (1q41)
OMIM®: 613809

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

Clinical features

Retinitis pigmentosa
MedGen UID:
20551
Concept ID:
C0035334
Disease or Syndrome
Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see 276900). Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole (summary by Kaiser et al., 2004). Juvenile Retinitis Pigmentosa Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (see 204000), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Autosomal recessive forms of juvenile retinitis pigmentosa can be caused by mutation in the SPATA7 (609868), LRAT (604863), and TULP1 (602280) genes (see LCA3, 604232, LCA14, 613341, and LCA15, 613843, respectively). An autosomal dominant form of juvenile retinitis pigmentosa (see 604393) is caused by mutation in the AIPL1 gene (604392).
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
A term for the pigmented cells within the retina in retinitis pigmentosa because of their resemblance to the nucleated cells within the lacuna of bone.
Abnormal electroretinogram
MedGen UID:
341512
Concept ID:
C1849688
Finding
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Visual field defect
MedGen UID:
854603
Concept ID:
C3887875
Finding
An absolute or relative reduction in the extent of the normal field of vision.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding

Term Hierarchy

Recent clinical studies

Etiology

D'Angelo R, Donato L, Venza I, Scimone C, Aragona P, Sidoti A
Int J Mol Med 2017 Apr;39(4):1011-1020. Epub 2017 Mar 10 doi: 10.3892/ijmm.2017.2917. PMID: 28290600
Yoshida N, Ikeda Y, Murakami Y, Nakatake S, Tachibana T, Notomi S, Hisatomi T, Ishibashi T
Jpn J Ophthalmol 2015 Nov;59(6):373-7. Epub 2015 Aug 29 doi: 10.1007/s10384-015-0405-1. PMID: 26314744
Xu Y, Guan L, Shen T, Zhang J, Xiao X, Jiang H, Li S, Yang J, Jia X, Yin Y, Guo X, Wang J, Zhang Q
Hum Genet 2014 Oct;133(10):1255-71. Epub 2014 Jun 18 doi: 10.1007/s00439-014-1460-2. PMID: 24938718
Nakazawa M, Suzuki Y, Ito T, Metoki T, Kudo T, Ohguro H
Biomed Res Int 2013;2013:585729. Epub 2013 Nov 12 doi: 10.1155/2013/585729. PMID: 24319686Free PMC Article
Oishi M, Nakamura H, Hangai M, Oishi A, Otani A, Yoshimura N
Indian J Ophthalmol 2012 Nov-Dec;60(6):545-9. doi: 10.4103/0301-4738.103793. PMID: 23202395Free PMC Article

Diagnosis

Gale MJ, Feng S, Titus HE, Smith TB, Pennesi ME
Adv Exp Med Biol 2016;854:291-7. doi: 10.1007/978-3-319-17121-0_39. PMID: 26427424
Rush RB, Rush SW
Retin Cases Brief Rep 2016 Winter;10(1):83-5. doi: 10.1097/ICB.0000000000000166. PMID: 26200384
Yoshida N, Ikeda Y, Murakami Y, Nakatake S, Tachibana T, Notomi S, Hisatomi T, Ishibashi T
Jpn J Ophthalmol 2015 Nov;59(6):373-7. Epub 2015 Aug 29 doi: 10.1007/s10384-015-0405-1. PMID: 26314744
Preethi S, Rajalakshmi AR
BMJ Case Rep 2015 May 28;2015 doi: 10.1136/bcr-2014-208589. PMID: 26021380Free PMC Article
Finzi A, Cellini M, Strobbe E, Campos EC
Life Sci 2014 Nov 24;118(2):386-90. Epub 2014 Apr 13 doi: 10.1016/j.lfs.2014.04.004. PMID: 24735956

Therapy

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
Nakazawa M, Suzuki Y, Ito T, Metoki T, Kudo T, Ohguro H
Biomed Res Int 2013;2013:585729. Epub 2013 Nov 12 doi: 10.1155/2013/585729. PMID: 24319686Free PMC Article
Adackapara CA, Sunness JS, Dibernardo CW, Melia BM, Dagnelie G
Retina 2008 Jan;28(1):103-10. doi: 10.1097/IAE.0b013e31809862aa. PMID: 18185146
Erem C, Ersöz HO, Ukinç K, Avunduk AM, Hacihasanoglu A, Koçak M
Endocrine 2006 Aug;30(1):145-9. doi: 10.1385/ENDO:30:1:145. PMID: 17185803
Alexander KR, Derlacki DJ, Fishman GA
Vision Res 1999 Jun;39(13):2267-74. PMID: 10343808

Prognosis

Preethi S, Rajalakshmi AR
BMJ Case Rep 2015 May 28;2015 doi: 10.1136/bcr-2014-208589. PMID: 26021380Free PMC Article
Nakazawa M, Suzuki Y, Ito T, Metoki T, Kudo T, Ohguro H
Biomed Res Int 2013;2013:585729. Epub 2013 Nov 12 doi: 10.1155/2013/585729. PMID: 24319686Free PMC Article
Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ
Hum Mol Genet 2012 Aug 15;21(16):3647-54. Epub 2012 May 22 doi: 10.1093/hmg/dds194. PMID: 22619378Free PMC Article
Sandberg MA, Rosner B, Weigel-DiFranco C, Dryja TP, Berson EL
Invest Ophthalmol Vis Sci 2007 Mar;48(3):1298-304. doi: 10.1167/iovs.06-0971. PMID: 17325176
Takahashi H, Miyake Y, Horiguchi M, Tomida N, Takakuwa H
Jpn J Ophthalmol 2005 Mar-Apr;49(2):114-20. doi: 10.1007/s10384-004-0160-1. PMID: 15838727

Clinical prediction guides

Gale MJ, Feng S, Titus HE, Smith TB, Pennesi ME
Adv Exp Med Biol 2016;854:291-7. doi: 10.1007/978-3-319-17121-0_39. PMID: 26427424
Yoshida N, Ikeda Y, Murakami Y, Nakatake S, Tachibana T, Notomi S, Hisatomi T, Ishibashi T
Jpn J Ophthalmol 2015 Nov;59(6):373-7. Epub 2015 Aug 29 doi: 10.1007/s10384-015-0405-1. PMID: 26314744
Nakazawa M, Suzuki Y, Ito T, Metoki T, Kudo T, Ohguro H
Biomed Res Int 2013;2013:585729. Epub 2013 Nov 12 doi: 10.1155/2013/585729. PMID: 24319686Free PMC Article
Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ
Hum Mol Genet 2012 Aug 15;21(16):3647-54. Epub 2012 May 22 doi: 10.1093/hmg/dds194. PMID: 22619378Free PMC Article
Thobani A, Fishman GA, Genead M, Anastasakis A
Retina 2011 May;31(5):967-72. doi: 10.1097/IAE.0b013e3181f441e1. PMID: 21252818Free PMC Article

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