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Retinitis pigmentosa 97(RP97)

MedGen UID:
1841215
Concept ID:
C5830579
Disease or Syndrome
Synonym: RP97
 
Gene (location): VWA8 (13q14.11)
 
Monarch Initiative: MONDO:0957314
OMIM®: 620422

Definition

Retinitis pigmentosa-97 (RP97) is characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity (Kong et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of RP, see 268000. [from OMIM]

Clinical features

From HPO
Amblyopia
MedGen UID:
8009
Concept ID:
C0002418
Disease or Syndrome
Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
Macular degeneration
MedGen UID:
7434
Concept ID:
C0024437
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Iris atrophy
MedGen UID:
96095
Concept ID:
C0423319
Disease or Syndrome
Loss of iris tissue (atrophy)
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

Bea-Mascato B, Valverde D
J Med Genet 2023 Dec 21;61(1):18-26. doi: 10.1136/jmg-2023-109175. PMID: 37321834Free PMC Article
Buers I, Persico I, Schöning L, Nitschke Y, Di Rocco M, Loi A, Sahi PK, Utine GE, Bayraktar-Tanyeri B, Zampino G, Crisponi G, Rutsch F, Crisponi L
Clin Genet 2020 Jan;97(1):209-221. Epub 2019 Sep 16 doi: 10.1111/cge.13639. PMID: 31497877
Bhalla S, Joshi D, Bhullar S, Kasuga D, Park Y, Kay CN
Br J Ophthalmol 2013 Jul;97(7):895-9. Epub 2013 Apr 20 doi: 10.1136/bjophthalmol-2013-303084. PMID: 23603755

Recent clinical studies

Etiology

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
Vingolo EM, Limoli PG, Steigerwalt RDJ, Carlesimo SC, Salvatore S
Int Ophthalmol 2020 Jan;40(1):179-184. Epub 2019 Aug 28 doi: 10.1007/s10792-019-01166-w. PMID: 31463623
Ten Berge JC, Fazil Z, van den Born I, Wolfs RCW, Schreurs MWJ, Dik WA, Rothova A
Acta Ophthalmol 2019 Mar;97(2):185-192. Epub 2018 Oct 8 doi: 10.1111/aos.13899. PMID: 30298670Free PMC Article
Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA
Pediatr Nephrol 2016 Nov;31(11):2153-61. Epub 2016 Jun 1 doi: 10.1007/s00467-016-3415-4. PMID: 27245600
Khan AO, Abu-Safieh L, Eisenberger T, Bolz HJ, Alkuraya FS
Br J Ophthalmol 2013 Jun;97(6):760-4. Epub 2013 Mar 16 doi: 10.1136/bjophthalmol-2012-303050. PMID: 23505306

Diagnosis

Bea-Mascato B, Valverde D
J Med Genet 2023 Dec 21;61(1):18-26. doi: 10.1136/jmg-2023-109175. PMID: 37321834Free PMC Article
Dong L, He W, Zhang R, Ge Z, Wang YX, Zhou J, Xu J, Shao L, Wang Q, Yan Y, Xie Y, Fang L, Wang H, Wang Y, Zhu X, Wang J, Zhang C, Wang H, Wang Y, Chen R, Wan Q, Yang J, Zhou W, Li H, Yao X, Yang Z, Xiong J, Wang X, Huang Y, Chen Y, Wang Z, Rong C, Gao J, Zhang H, Wu S, Jonas JB, Wei WB
JAMA Netw Open 2022 May 2;5(5):e229960. doi: 10.1001/jamanetworkopen.2022.9960. PMID: 35503220Free PMC Article
Buers I, Persico I, Schöning L, Nitschke Y, Di Rocco M, Loi A, Sahi PK, Utine GE, Bayraktar-Tanyeri B, Zampino G, Crisponi G, Rutsch F, Crisponi L
Clin Genet 2020 Jan;97(1):209-221. Epub 2019 Sep 16 doi: 10.1111/cge.13639. PMID: 31497877
Vingolo EM, Limoli PG, Steigerwalt RDJ, Carlesimo SC, Salvatore S
Int Ophthalmol 2020 Jan;40(1):179-184. Epub 2019 Aug 28 doi: 10.1007/s10792-019-01166-w. PMID: 31463623
Lang M, Harris A, Ciulla TA, Siesky B, Patel P, Belamkar A, Mathew S, Verticchio Vercellin AC
Acta Ophthalmol 2019 Nov;97(7):660-664. Epub 2019 May 17 doi: 10.1111/aos.14138. PMID: 31099494

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
Chibel R, Sher I, Ben Ner D, Mhajna MO, Achiron A, Hajyahia S, Skaat A, Berchenko Y, Oberman B, Kalter-Leibovici O, Freedman L, Rotenstreich Y
Ophthalmology 2016 Sep;123(9):1898-911. Epub 2016 Jul 16 doi: 10.1016/j.ophtha.2016.05.038. PMID: 27432203
Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA
Pediatr Nephrol 2016 Nov;31(11):2153-61. Epub 2016 Jun 1 doi: 10.1007/s00467-016-3415-4. PMID: 27245600
Geltzer A, Turalba A, Vedula SS
Cochrane Database Syst Rev 2013 Jan 31;1(1):CD005022. doi: 10.1002/14651858.CD005022.pub3. PMID: 23440797Free PMC Article
Alteheld N, Roessler G, Walter P
Acta Neurochir Suppl 2007;97(Pt 2):487-93. doi: 10.1007/978-3-211-33081-4_56. PMID: 17691339

Prognosis

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
Lang M, Harris A, Ciulla TA, Siesky B, Patel P, Belamkar A, Mathew S, Verticchio Vercellin AC
Acta Ophthalmol 2019 Nov;97(7):660-664. Epub 2019 May 17 doi: 10.1111/aos.14138. PMID: 31099494
Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA
Pediatr Nephrol 2016 Nov;31(11):2153-61. Epub 2016 Jun 1 doi: 10.1007/s00467-016-3415-4. PMID: 27245600
Saudubray JM, Martin D, de Lonlay P, Touati G, Poggi-Travert F, Bonnet D, Jouvet P, Boutron M, Slama A, Vianey-Saban C, Bonnefont JP, Rabier D, Kamoun P, Brivet M
J Inherit Metab Dis 1999 Jun;22(4):488-502. doi: 10.1023/a:1005556207210. PMID: 10407781
Marmor MF
Arch Ophthalmol 1979 Jul;97(7):1300-4. doi: 10.1001/archopht.1979.01020020042009. PMID: 454267

Clinical prediction guides

Zhuang J, Zhang R, Zhou B, Cao Z, Zhou J, Chen X, Zhang N, Zhu Y, Yang J
Ophthalmic Genet 2024 Apr;45(2):147-152. Epub 2024 Jan 29 doi: 10.1080/13816810.2023.2294843. PMID: 38284172
Dong L, He W, Zhang R, Ge Z, Wang YX, Zhou J, Xu J, Shao L, Wang Q, Yan Y, Xie Y, Fang L, Wang H, Wang Y, Zhu X, Wang J, Zhang C, Wang H, Wang Y, Chen R, Wan Q, Yang J, Zhou W, Li H, Yao X, Yang Z, Xiong J, Wang X, Huang Y, Chen Y, Wang Z, Rong C, Gao J, Zhang H, Wu S, Jonas JB, Wei WB
JAMA Netw Open 2022 May 2;5(5):e229960. doi: 10.1001/jamanetworkopen.2022.9960. PMID: 35503220Free PMC Article
Anikina E, Georgiou M, Tee J, Webster AR, Weleber RG, Michaelides M
Am J Ophthalmol 2022 Feb;234:81-90. Epub 2021 Jul 22 doi: 10.1016/j.ajo.2021.07.018. PMID: 34303686Free PMC Article
Celik E, Koklu B, Dogan E, Erdogan G, Alagoz G
J Fr Ophtalmol 2015 Dec;38(10):955-9. Epub 2015 Nov 17 doi: 10.1016/j.jfo.2015.05.007. PMID: 26597552
Marmor MF
Arch Ophthalmol 1979 Jul;97(7):1300-4. doi: 10.1001/archopht.1979.01020020042009. PMID: 454267

Recent systematic reviews

Bea-Mascato B, Valverde D
J Med Genet 2023 Dec 21;61(1):18-26. doi: 10.1136/jmg-2023-109175. PMID: 37321834Free PMC Article
Geltzer A, Turalba A, Vedula SS
Cochrane Database Syst Rev 2013 Jan 31;1(1):CD005022. doi: 10.1002/14651858.CD005022.pub3. PMID: 23440797Free PMC Article

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