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Retinitis pigmentosa 44(RP44)

MedGen UID:
462418
Concept ID:
C3151068
Disease or Syndrome
Synonym: RP44
 
Gene (location): RGR (10q23.1)
 
Monarch Initiative: MONDO:0013414
OMIM®: 613769

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene. [from MONDO]

Clinical features

From HPO
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.
Decreased light- and dark-adapted electroretinogram amplitude
MedGen UID:
326793
Concept ID:
C1839025
Finding
Decreased amplitude of eletrical response upon 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.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Yu C, Xu J, Heidari G, Jiang H, Shi Y, Wu A, Makvandi P, Neisiany RE, Zare EN, Shao M, Hu L
Int J Biol Macromol 2024 Jun;269(Pt 1):132086. Epub 2024 May 3 doi: 10.1016/j.ijbiomac.2024.132086. PMID: 38705321
Tsutsui S, Murakami Y, Fujiwara K, Koyanagi Y, Akiyama M, Takeda A, Ikeda Y, Sonoda KH
Jpn J Ophthalmol 2024 Jan;68(1):1-11. Epub 2023 Dec 9 doi: 10.1007/s10384-023-01036-0. PMID: 38070066
Zaw K, Carvalho LS, Aung-Htut MT, Fletcher S, Wilton SD, Chen FK, McLenachan S
Asia Pac J Ophthalmol (Phila) 2022 Jul-Aug 01;11(4):369-379. Epub 2022 Aug 17 doi: 10.1097/APO.0000000000000546. PMID: 36041150

Recent clinical studies

Etiology

Upadhyaya A, Kiri H, Natarajan R, Hansraj S, Padhy SK, Takkar B, Padhi TR, Jalali S, Parameswarappa DC
Graefes Arch Clin Exp Ophthalmol 2024 Feb;262(2):441-448. Epub 2023 Oct 20 doi: 10.1007/s00417-023-06274-z. PMID: 37861848
Meyer JR, Krentz AD, Berg RL, Richardson JG, Pomeroy J, Hebbring SJ, Haws RM
Clin Genet 2022 Apr;101(4):429-441. doi: 10.1111/cge.14119. PMID: 35112343Free PMC Article
Köylü MT, Gökçe G, Sobaci G, Oysul FG, Akincioğlu D
Turk J Med Sci 2016 Jan 5;46(1):139-44. doi: 10.3906/sag-1411-82. PMID: 27511347
Poley JR, Proud VK
Am J Med Genet A 2008 Oct 1;146A(19):2473-9. doi: 10.1002/ajmg.a.32266. PMID: 18792981
Greenberg J, Bartmann L, Ramesar R, Beighton P
Clin Genet 1993 Nov;44(5):232-5. doi: 10.1111/j.1399-0004.1993.tb03888.x. PMID: 8313621

Diagnosis

Kim YJ, Kim YN, Yoon YH, Seo EJ, Seo GH, Keum C, Lee BH, Lee JY
Genes (Basel) 2021 Apr 30;12(5) doi: 10.3390/genes12050675. PMID: 33946315Free PMC Article
Sota J, Vitale A, Fabiani C, Frediani B, Rigante D, Tosi GM, Zannin ME, Cantarini L
Clin Exp Rheumatol 2018 Jan-Feb;36 Suppl 110(1):44-53. Epub 2018 May 3 PMID: 29742057
North V, Gelman R, Tsang SH
Dev Ophthalmol 2014;53:44-52. Epub 2014 Apr 10 doi: 10.1159/000357293. PMID: 24732760Free PMC Article
Poley JR, Proud VK
Am J Med Genet A 2008 Oct 1;146A(19):2473-9. doi: 10.1002/ajmg.a.32266. PMID: 18792981
Albert DM, Nordlund JJ, Lerner AB
Ophthalmology 1979 Jun;86(6):1145-60. doi: 10.1016/s0161-6420(79)35413-6. PMID: 534100

Therapy

Yılmaz Çebi A, Hepokur M
Ophthalmic Genet 2023 Jun;44(3):273-275. Epub 2022 Jul 25 doi: 10.1080/13816810.2022.2103836. PMID: 35876331
Wood LJ, Jolly JK, Josan AS, Buckley TMW, MacLaren RE
Transl Vis Sci Technol 2021 Feb 5;10(2):28. doi: 10.1167/tvst.10.2.28. PMID: 34003913Free PMC Article
Geruschat DR, Richards TP, Arditi A, da Cruz L, Dagnelie G, Dorn JD, Duncan JL, Ho AC, Olmos de Koo LC, Sahel JA, Stanga PE, Thumann G, Wang V, Greenberg RJ
Clin Exp Optom 2016 May;99(3):227-32. Epub 2016 Jan 24 doi: 10.1111/cxo.12359. PMID: 26804484Free PMC Article
Froger N, Moutsimilli L, Cadetti L, Jammoul F, Wang QP, Fan Y, Gaucher D, Rosolen SG, Neveux N, Cynober L, Sahel JA, Picaud S
Prog Retin Eye Res 2014 Jul;41:44-63. Epub 2014 Apr 8 doi: 10.1016/j.preteyeres.2014.03.001. PMID: 24721186
Yoshii M, Yanashima K, Wakaguri T, Sakemi F, Kikuchi Y, Suzuki S, Okisaka S
Jpn J Ophthalmol 2000 Mar-Apr;44(2):122-7. doi: 10.1016/s0021-5155(99)00189-6. PMID: 10715377

Prognosis

Avela K, Salonen-Kajander R, Laitinen A, Ramsden S, Barton S, Rudanko SL
Acta Ophthalmol 2019 Dec;97(8):805-814. Epub 2019 May 14 doi: 10.1111/aos.14128. PMID: 31087526
North V, Gelman R, Tsang SH
Dev Ophthalmol 2014;53:44-52. Epub 2014 Apr 10 doi: 10.1159/000357293. PMID: 24732760Free PMC Article
Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM
Nat Genet 2012 Nov;44(11):1265-71. Epub 2012 Sep 30 doi: 10.1038/ng.2426. PMID: 23023331Free PMC Article
Poley JR, Proud VK
Am J Med Genet A 2008 Oct 1;146A(19):2473-9. doi: 10.1002/ajmg.a.32266. PMID: 18792981
Yap M, Weatherill J
Ophthalmic Physiol Opt 1989 Jul;9(3):289-92. doi: 10.1111/j.1475-1313.1989.tb00908.x. PMID: 2622670

Clinical prediction guides

Chandrasekar SP, Namboothiri S, Sen P, Sarangapani S
Indian J Med Res 2018 Feb;147(2):177-182. doi: 10.4103/ijmr.IJMR_1822_15. PMID: 29806606Free PMC Article
Sliesoraityte I, Peto T, Mohand-Said S, Sahel JA
Orphanet J Rare Dis 2015 Dec 10;10:157. doi: 10.1186/s13023-015-0372-0. PMID: 26654877Free PMC Article
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA
Nat Cell Biol 2015 Aug;17(8):1074-1087. Epub 2015 Jul 13 doi: 10.1038/ncb3201. PMID: 26167768Free PMC Article
Froger N, Moutsimilli L, Cadetti L, Jammoul F, Wang QP, Fan Y, Gaucher D, Rosolen SG, Neveux N, Cynober L, Sahel JA, Picaud S
Prog Retin Eye Res 2014 Jul;41:44-63. Epub 2014 Apr 8 doi: 10.1016/j.preteyeres.2014.03.001. PMID: 24721186
Albert DM, Nordlund JJ, Lerner AB
Ophthalmology 1979 Jun;86(6):1145-60. doi: 10.1016/s0161-6420(79)35413-6. PMID: 534100

Recent systematic reviews

Lam BL, Scholl HPN, Doub D, Sperling M, Hashim M, Li N
Retina 2024 Jan 1;44(1):1-9. doi: 10.1097/IAE.0000000000003920. PMID: 37683184
Lee BJH, Tham YC, Tan TE, Bylstra Y, Lim WK, Jain K, Chan CM, Mathur R, Cheung CMG, Fenner BJ
Ophthalmic Genet 2023 Apr;44(2):109-118. Epub 2023 Mar 1 doi: 10.1080/13816810.2023.2182329. PMID: 36856324

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