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Retinitis pigmentosa 71(RP71)

MedGen UID:
897209
Concept ID:
C4225342
Disease or Syndrome
Synonym: RP71
 
Gene (location): IFT172 (2p23.3)
 
Monarch Initiative: MONDO:0014618
OMIM®: 616394

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene. [from MONDO]

Clinical features

From HPO
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Optic disc drusen
MedGen UID:
14495
Concept ID:
C0029128
Disease or Syndrome
Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Perifoveal ring of hyperautofluorescence
MedGen UID:
892724
Concept ID:
C4073099
Finding
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.

Professional guidelines

PubMed

Numa S, Oishi A, Higasa K, Oishi M, Miyata M, Hasegawa T, Ikeda HO, Otsuka Y, Matsuda F, Tsujikawa A
Sci Rep 2020 Nov 27;10(1):20770. doi: 10.1038/s41598-020-77558-1. PMID: 33247286Free PMC Article
Tao T, Wang L, Chong W, Yang L, Li G
Int Ophthalmol 2020 Sep;40(9):2325-2343. Epub 2020 May 24 doi: 10.1007/s10792-020-01415-3. PMID: 32448990
Birtel J, Gliem M, Oishi A, Müller PL, Herrmann P, Holz FG, Mangold E, Knapp M, Bolz HJ, Charbel Issa P
Clin Exp Ophthalmol 2019 Aug;47(6):779-786. Epub 2019 May 8 doi: 10.1111/ceo.13516. PMID: 30977268

Recent clinical studies

Etiology

Sen P, Srikrupa N, Maitra P, Srilekha S, Porkodi P, Gnanasekaran H, Bhende M, Khetan V, Mathavan S, Bhende P, Ratra D, Raman R, Rao C, Sripriya S
Indian J Ophthalmol 2023 Jun;71(6):2512-2520. doi: 10.4103/IJO.IJO_2579_22. PMID: 37322672Free PMC Article
Gupta KK, Gurung G, Tulsyan N
Nepal J Ophthalmol 2022 Jan;14(27):31-38. doi: 10.3126/nepjoph.v14i1.38977. PMID: 35996901
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article
Lee SJ, Na JH, Han J, Lee YM
Yonsei Med J 2018 Dec;59(10):1190-1196. doi: 10.3349/ymj.2018.59.10.1190. PMID: 30450853Free PMC Article
Eysteinsson T, Hardarson SH, Bragason D, Stefánsson E
Acta Ophthalmol 2014 Aug;92(5):449-53. Epub 2014 Apr 27 doi: 10.1111/aos.12359. PMID: 24767302

Diagnosis

Sone J, Ueno S, Akagi A, Miyahara H, Tamai C, Riku Y, Yabata H, Koizumi R, Hattori T, Hirose H, Koyanagi Y, Kobayashi R, Okada H, Kishimoto Y, Hashizume Y, Sobue G, Yoshida M, Iwasaki Y
Acta Neuropathol Commun 2023 May 2;11(1):71. doi: 10.1186/s40478-023-01564-3. PMID: 37131242Free PMC Article
Wang DD, Gao FJ, Hu FY, Cao WJ, Xu P, Huang Y, Sun XH, Wu JH
Curr Eye Res 2022 Sep;47(9):1339-1345. Epub 2022 Aug 3 doi: 10.1080/02713683.2022.2085303. PMID: 35924323
Lee SJ, Na JH, Han J, Lee YM
Yonsei Med J 2018 Dec;59(10):1190-1196. doi: 10.3349/ymj.2018.59.10.1190. PMID: 30450853Free PMC Article
Benfenati F, Lanzani G
Lab Anim (NY) 2018 Mar;47(3):71-75. Epub 2018 Feb 26 doi: 10.1038/s41684-018-0003-1. PMID: 29483694
Pivetti-Pezzi P
Eur J Ophthalmol 1996 Jul-Sep;6(3):293-8. doi: 10.1177/112067219600600313. PMID: 8908437

Therapy

Leung EH, Levie-Sprick A, Sharma S, Lee GD, Cho H, Yee DC, Mukkamala K
Ophthalmic Surg Lasers Imaging Retina 2023 Jul;54(7):388-394. Epub 2023 Jun 1 doi: 10.3928/23258160-20230522-02. PMID: 37310751
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article
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
Luo YH, Zhong JJ, da Cruz L
Graefes Arch Clin Exp Ophthalmol 2015 Nov;253(11):1907-14. Epub 2014 Dec 31 doi: 10.1007/s00417-014-2912-z. PMID: 25547618
Cai CX, Locke KG, Ramachandran R, Birch DG, Hood DC
Invest Ophthalmol Vis Sci 2014 Oct 23;55(11):7417-22. doi: 10.1167/iovs.14-15013. PMID: 25342618Free PMC Article

Prognosis

Sen P, Srikrupa N, Maitra P, Srilekha S, Porkodi P, Gnanasekaran H, Bhende M, Khetan V, Mathavan S, Bhende P, Ratra D, Raman R, Rao C, Sripriya S
Indian J Ophthalmol 2023 Jun;71(6):2512-2520. doi: 10.4103/IJO.IJO_2579_22. PMID: 37322672Free PMC Article
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article
Liew G, Strong S, Bradley P, Severn P, Moore AT, Webster AR, Mitchell P, Kifley A, Michaelides M
Br J Ophthalmol 2019 Aug;103(8):1163-1166. Epub 2018 Oct 5 doi: 10.1136/bjophthalmol-2018-311964. PMID: 30291136
Lee SJ, Na JH, Han J, Lee YM
Yonsei Med J 2018 Dec;59(10):1190-1196. doi: 10.3349/ymj.2018.59.10.1190. PMID: 30450853Free PMC Article
Pivetti-Pezzi P
Eur J Ophthalmol 1996 Jul-Sep;6(3):293-8. doi: 10.1177/112067219600600313. PMID: 8908437

Clinical prediction guides

Usui-Ouchi A, Giles S, Harkins-Perry S, Mills EA, Bonelli R, Wei G, Ouchi Y, Ebihara N, Nakao S, Friedlander M, Eade KT
Glia 2023 Oct;71(10):2372-2382. Epub 2023 Jun 19 doi: 10.1002/glia.24428. PMID: 37335016
Sen P, Srikrupa N, Maitra P, Srilekha S, Porkodi P, Gnanasekaran H, Bhende M, Khetan V, Mathavan S, Bhende P, Ratra D, Raman R, Rao C, Sripriya S
Indian J Ophthalmol 2023 Jun;71(6):2512-2520. doi: 10.4103/IJO.IJO_2579_22. PMID: 37322672Free PMC Article
Sone J, Ueno S, Akagi A, Miyahara H, Tamai C, Riku Y, Yabata H, Koizumi R, Hattori T, Hirose H, Koyanagi Y, Kobayashi R, Okada H, Kishimoto Y, Hashizume Y, Sobue G, Yoshida M, Iwasaki Y
Acta Neuropathol Commun 2023 May 2;11(1):71. doi: 10.1186/s40478-023-01564-3. PMID: 37131242Free PMC Article
Meral N, Zabek O, Camenzind Zuche H, Müller U, Prétot D, Rickmann A, Scholl HPN, Della Volpe Waizel M
Ophthalmic Res 2022;65(1):52-59. Epub 2021 Oct 4 doi: 10.1159/000519998. PMID: 34607326
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article

Recent systematic reviews

Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article

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