Format

Send to:

Choose Destination

Links from PubMed

Retinitis pigmentosa 13(RP13)

MedGen UID:
325486
Concept ID:
C1838702
Disease or Syndrome
Synonyms: PRPF 8-Related Retinitis Pigmentosa; RP 13; RP13
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): PRPF8 (17p13.3)
OMIM®: 600059

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

Clinical features

Cystoid macular edema
MedGen UID:
7435
Concept ID:
C0024440
Disease or Syndrome
Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al., 2015).
Nyctalopia
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Failure or imperfection of vision at night or in dim light, with good vision only on bright days. (Dorland, 27th ed)
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)
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).
Hypopigmentation of the fundus
MedGen UID:
101805
Concept ID:
C0151891
Disease or Syndrome
Decreased amount of pigmentation of the retina.
Constriction of peripheral visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
Cystoid macular edema
MedGen UID:
7435
Concept ID:
C0024440
Disease or Syndrome
Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al., 2015).

Term Hierarchy

Recent clinical studies

Etiology

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
Hoffman DR, Hughbanks-Wheaton DK, Pearson NS, Fish GE, Spencer R, Takacs A, Klein M, Locke KG, Birch DG
JAMA Ophthalmol 2014 Jul;132(7):866-73. doi: 10.1001/jamaophthalmol.2014.1634. PMID: 24805262Free PMC Article
Bittner AK, Gould JM, Rosenfarb A, Rozanski C, Dagnelie G
Clin Exp Optom 2014 May;97(3):240-7. Epub 2013 Oct 29 doi: 10.1111/cxo.12117. PMID: 24773463Free PMC Article
Jinda W, Taylor TD, Suzuki Y, Thongnoppakhun W, Limwongse C, Lertrit P, Suriyaphol P, Trinavarat A, Atchaneeyasakul LO
Invest Ophthalmol Vis Sci 2014 Apr 7;55(4):2259-68. doi: 10.1167/iovs.13-13567. PMID: 24618324
Zahid S, Khan N, Branham K, Othman M, Karoukis AJ, Sharma N, Moncrief A, Mahmood MN, Sieving PA, Swaroop A, Heckenlively JR, Jayasundera T
JAMA Ophthalmol 2013 Aug;131(8):1016-25. doi: 10.1001/jamaophthalmol.2013.120. PMID: 23681342Free PMC Article

Diagnosis

Parmeggiani F, Barbaro V, Migliorati A, Raffa P, Nespeca P, De Nadai K, Del Vecchio C, Palù G, Parolin C, Di Iorio E
Eur J Ophthalmol 2017 Mar 10;27(2):240-248. Epub 2016 Oct 21 doi: 10.5301/ejo.5000879. PMID: 27768226
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
Todorova MG, Josifova T, Konieczka K
Klin Monbl Augenheilkd 2015 Apr;232(4):514-8. Epub 2015 Apr 22 doi: 10.1055/s-0035-1545674. PMID: 25902111
Hoffman DR, Hughbanks-Wheaton DK, Pearson NS, Fish GE, Spencer R, Takacs A, Klein M, Locke KG, Birch DG
JAMA Ophthalmol 2014 Jul;132(7):866-73. doi: 10.1001/jamaophthalmol.2014.1634. PMID: 24805262Free PMC Article
Bittner AK, Gould JM, Rosenfarb A, Rozanski C, Dagnelie G
Clin Exp Optom 2014 May;97(3):240-7. Epub 2013 Oct 29 doi: 10.1111/cxo.12117. PMID: 24773463Free PMC Article

Therapy

Sofi F, Sodi A, Franco F, Murro V, Biagini D, Miele A, Abbruzzese G, Mucciolo DP, Virgili G, Menchini U, Casini A, Rizzo S
BMC Ophthalmol 2016 Jan 22;16:13. doi: 10.1186/s12886-016-0187-3. PMID: 26801981Free PMC Article
Zhou Q, Cheng J, Yang W, Tania M, Wang H, Khan MA, Duan C, Zhu L, Chen R, Lv H, Fu J
Biomed Res Int 2015;2015:907827. Epub 2015 May 17 doi: 10.1155/2015/907827. PMID: 26075273Free PMC Article
Lemos Reis RF, Moreira-Gonçalves N, Estrela Silva SE, Brandão EM, Falcão-Reis FM
Ophthalmologica 2015;233(1):43-50. Epub 2014 Nov 26 doi: 10.1159/000368052. PMID: 25428176
Hoffman DR, Hughbanks-Wheaton DK, Pearson NS, Fish GE, Spencer R, Takacs A, Klein M, Locke KG, Birch DG
JAMA Ophthalmol 2014 Jul;132(7):866-73. doi: 10.1001/jamaophthalmol.2014.1634. PMID: 24805262Free PMC Article
Birch DG, Locke KG, Wen Y, Locke KI, Hoffman DR, Hood DC
JAMA Ophthalmol 2013 Sep;131(9):1143-50. doi: 10.1001/jamaophthalmol.2013.4160. PMID: 23828615Free PMC Article

Prognosis

Beryozkin A, Levy G, Blumenfeld A, Meyer S, Namburi P, Morad Y, Gradstein L, Swaroop A, Banin E, Sharon D
Invest Ophthalmol Vis Sci 2016 Mar;57(3):940-7. doi: 10.1167/iovs.15-18702. PMID: 26962691Free PMC Article
Pierrache LH, Hartel BP, van Wijk E, Meester-Smoor MA, Cremers FP, de Baere E, de Zaeytijd J, van Schooneveld MJ, Cremers CW, Dagnelie G, Hoyng CB, Bergen AA, Leroy BP, Pennings RJ, van den Born LI, Klaver CC
Ophthalmology 2016 May;123(5):1151-60. Epub 2016 Feb 27 doi: 10.1016/j.ophtha.2016.01.021. PMID: 26927203
Pierrottet CO, Zuntini M, Digiuni M, Bazzanella I, Ferri P, Paderni R, Rossetti LM, Cecchin S, Orzalesi N, Bertelli M
Genet Mol Res 2014 Oct 27;13(4):8815-33. doi: 10.4238/2014.October.27.23. PMID: 25366773
Bittner AK, Gould JM, Rosenfarb A, Rozanski C, Dagnelie G
Clin Exp Optom 2014 May;97(3):240-7. Epub 2013 Oct 29 doi: 10.1111/cxo.12117. PMID: 24773463Free PMC Article
Zahid S, Khan N, Branham K, Othman M, Karoukis AJ, Sharma N, Moncrief A, Mahmood MN, Sieving PA, Swaroop A, Heckenlively JR, Jayasundera T
JAMA Ophthalmol 2013 Aug;131(8):1016-25. doi: 10.1001/jamaophthalmol.2013.120. PMID: 23681342Free PMC Article

Clinical prediction guides

Igarashi N, Matsuura M, Hashimoto Y, Hirasawa K, Murata H, Inoue T, Ryo O, Aihara M, Asaoka R
PLoS One 2016;11(11):e0166666. Epub 2016 Nov 28 doi: 10.1371/journal.pone.0166666. PMID: 27893769Free PMC Article
Beryozkin A, Levy G, Blumenfeld A, Meyer S, Namburi P, Morad Y, Gradstein L, Swaroop A, Banin E, Sharon D
Invest Ophthalmol Vis Sci 2016 Mar;57(3):940-7. doi: 10.1167/iovs.15-18702. PMID: 26962691Free PMC Article
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
Yoon CK, Kim NK, Joung JG, Shin JY, Park JH, Eum HH, Lee HO, Park WY, Yu HG
BMC Genomics 2015 Jul 9;16:515. doi: 10.1186/s12864-015-1723-x. PMID: 26155838Free PMC Article
Pierrottet CO, Zuntini M, Digiuni M, Bazzanella I, Ferri P, Paderni R, Rossetti LM, Cecchin S, Orzalesi N, Bertelli M
Genet Mol Res 2014 Oct 27;13(4):8815-33. doi: 10.4238/2014.October.27.23. PMID: 25366773

Recent systematic reviews

Zelinger L, Wissinger B, Eli D, Kohl S, Sharon D, Banin E
Ophthalmology 2013 Nov;120(11):2338-43. Epub 2013 May 29 doi: 10.1016/j.ophtha.2013.03.031. PMID: 23725738
Lichtinger A, Chowers I, Amer R
Graefes Arch Clin Exp Ophthalmol 2010 Oct;248(10):1481-5. Epub 2010 Jun 24 doi: 10.1007/s00417-010-1429-3. PMID: 20574746

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center