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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.
See: Feature record | Search on this feature
Night blindness
MedGen UID:
10349
•Concept ID:
C0028077
•
Disease or Syndrome
Inability to see well at night or in poor light.
See: Feature record | Search on this feature
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.
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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.
See: Feature record | Search on this feature
Attenuation of retinal blood vessels
MedGen UID:
480605
•Concept ID:
C3278975
•
Finding
See: Feature record | Search on this feature
Perifoveal ring of hyperautofluorescence
MedGen UID:
892724
•Concept ID:
C4073099
•
Finding
See: Feature record | Search on this feature
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.
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Professional guidelines

PubMed

EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening.
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
Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome.
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
Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.
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

Progression of Pentosan-Polysulfate Sodium-Associated Retinopathy: Intermediate Follow-Up.
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
Prevalence of Retinitis Pigmentosa in a Tertiary Eye Hospital of Nepal.
Gupta KK, Gurung G, Tulsyan N
Nepal J Ophthalmol 2022 Jan;14(27):31-38. doi: 10.3126/nepjoph.v14i1.38977. PMID: 35996901
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Ophthalmoplegia in Mitochondrial Disease.
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
Retinal vessel oxygen saturation and vessel diameter in retinitis pigmentosa.
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

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.
Gao S, Zhang Q, Ding Y, Wang L, Li Z, Hu F, Yao RE, Yu T, Chang G, Wang X
Orphanet J Rare Dis 2024 Apr 8;19(1):149. doi: 10.1186/s13023-024-03150-9. PMID: 38584252Free PMC Article
Clinical and Genetic Analysis of Retinitis Pigmentosa with Primary Angle Closure Glaucoma in the Chinese Population.
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
Ophthalmoplegia in Mitochondrial Disease.
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
New technologies for developing second generation retinal prostheses.
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
Uveitis in children.
Pivetti-Pezzi P
Eur J Ophthalmol 1996 Jul-Sep;6(3):293-8. doi: 10.1177/112067219600600313. PMID: 8908437

Therapy

Establishing Clinical Trial Endpoints in Selecting Patients for RPGR Retinal Gene Therapy.
Christou EE, Josan AS, Cehajic-Kapetanovic J, MacLaren RE
Transl Vis Sci Technol 2024 Sep 3;13(9):18. doi: 10.1167/tvst.13.9.18. PMID: 39287586Free PMC Article
Progression of Pentosan-Polysulfate Sodium-Associated Retinopathy: Intermediate Follow-Up.
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
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
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
INTRAVITREAL DEXAMETHASONE IMPLANT IN RETINITIS PIGMENTOSA-RELATED CYSTOID MACULAR EDEMA.
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
A comparison of progressive loss of the ellipsoid zone (EZ) band in autosomal dominant and x-linked retinitis pigmentosa.
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

Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.
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
Progression of Pentosan-Polysulfate Sodium-Associated Retinopathy: Intermediate Follow-Up.
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
Ophthalmoplegia in Mitochondrial Disease.
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
CRB1 mutation spectrum in inherited retinal dystrophies.
den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, Koenekoop RK, Kellner U, van den Born LI, Heckenlively JR, Hoyng CB, Handford PA, Roepman R, Cremers FP
Hum Mutat 2004 Nov;24(5):355-69. doi: 10.1002/humu.20093. PMID: 15459956
Uveitis in children.
Pivetti-Pezzi P
Eur J Ophthalmol 1996 Jul-Sep;6(3):293-8. doi: 10.1177/112067219600600313. PMID: 8908437

Clinical prediction guides

Integrating human iPSC-derived macrophage progenitors into retinal organoids to generate a mature retinal microglial niche.
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
Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.
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
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
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
CRB1 mutation spectrum in inherited retinal dystrophies.
den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, Koenekoop RK, Kellner U, van den Born LI, Heckenlively JR, Hoyng CB, Handford PA, Roepman R, Cremers FP
Hum Mutat 2004 Nov;24(5):355-69. doi: 10.1002/humu.20093. PMID: 15459956

Recent systematic reviews

Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
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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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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