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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.
See: Feature record | Search on this feature
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.
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
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Iris atrophy
MedGen UID:
96095
•Concept ID:
C0423319
•
Disease or Syndrome
Loss of iris tissue (atrophy)
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis.
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
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
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
Long-term follow-up for efficacy and safety of treatment of retinitis pigmentosa with valproic acid.
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

PDE6A-Associated Retinitis Pigmentosa, Clinical Characteristics, Genetics, and Natural History.
Hashem SA, Georgiou M, Wright G, Fujinami-Yokokawa Y, Laich Y, Daich Varela M, de Guimaraes TAC, Mahroo OA, Webster AR, Fujinami K, Michaelides M
Ophthalmol Retina 2025 Mar;9(3):278-287. Epub 2024 Aug 31 doi: 10.1016/j.oret.2024.08.018. PMID: 39218074
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT, van den Born LI, Vermeer M, Iglesias Gonzales AI, Hoyng CB, Pott JWR, Kroes HY, van Schooneveld MJ, Boon CJF, van Genderen MM, Plomp AS, de Jong-Hesse Y, van Egmond-Ebbeling MB, Hoefsloot LH, A Bergen A, Klaver CCW, Meester-Smoor MA, Thiadens AAHJ, Verhoeven VJM
Invest Ophthalmol Vis Sci 2024 Aug 1;65(10):40. doi: 10.1167/iovs.65.10.40. PMID: 39189993Free 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
Renal transplantation in Bardet-Biedl Syndrome.
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
Retinitis pigmentosa associated with glaucoma--clinical analysis.
Peng T, Wu L, Zhou W
Yan Ke Xue Bao 1990 Jun;6(1-2):17-9. PMID: 2101353

Diagnosis

PDE6A-Associated Retinitis Pigmentosa, Clinical Characteristics, Genetics, and Natural History.
Hashem SA, Georgiou M, Wright G, Fujinami-Yokokawa Y, Laich Y, Daich Varela M, de Guimaraes TAC, Mahroo OA, Webster AR, Fujinami K, Michaelides M
Ophthalmol Retina 2025 Mar;9(3):278-287. Epub 2024 Aug 31 doi: 10.1016/j.oret.2024.08.018. PMID: 39218074
Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.
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
Vascular dysfunction in retinitis pigmentosa.
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
Renal transplantation in Bardet-Biedl Syndrome.
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
The role of carbonic anhydrase inhibitors in the management of macular edema.
Wolfensberger TJ
Doc Ophthalmol 1999;97(3-4):387-97. doi: 10.1023/a:1002143802926. PMID: 10896355

Therapy

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
Vision Loss Secondary to Autologous Adipose Stem Cell Injections: A Rising Problem.
Rong AJ, Lam BL, Ansari ZA, Albini TA
JAMA Ophthalmol 2018 Jan 1;136(1):97-99. doi: 10.1001/jamaophthalmol.2017.5453. PMID: 29192301
Renal transplantation in Bardet-Biedl Syndrome.
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
The role of carbonic anhydrase inhibitors in the management of macular edema.
Wolfensberger TJ
Doc Ophthalmol 1999;97(3-4):387-97. doi: 10.1023/a:1002143802926. PMID: 10896355
Reversible visual loss in a patient receiving high-dose ciprofloxacin hydrochloride (Cipro).
Vrabec TR, Sergott RC, Jaeger EA, Savino PJ, Bosley TM
Ophthalmology 1990 Jun;97(6):707-10. doi: 10.1016/s0161-6420(90)32518-6. PMID: 2374675

Prognosis

PDE6A-Associated Retinitis Pigmentosa, Clinical Characteristics, Genetics, and Natural History.
Hashem SA, Georgiou M, Wright G, Fujinami-Yokokawa Y, Laich Y, Daich Varela M, de Guimaraes TAC, Mahroo OA, Webster AR, Fujinami K, Michaelides M
Ophthalmol Retina 2025 Mar;9(3):278-287. Epub 2024 Aug 31 doi: 10.1016/j.oret.2024.08.018. PMID: 39218074
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
Vascular dysfunction in retinitis pigmentosa.
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
Renal transplantation in Bardet-Biedl Syndrome.
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
The role of carbonic anhydrase inhibitors in the management of macular edema.
Wolfensberger TJ
Doc Ophthalmol 1999;97(3-4):387-97. doi: 10.1023/a:1002143802926. PMID: 10896355

Clinical prediction guides

PDE6A-Associated Retinitis Pigmentosa, Clinical Characteristics, Genetics, and Natural History.
Hashem SA, Georgiou M, Wright G, Fujinami-Yokokawa Y, Laich Y, Daich Varela M, de Guimaraes TAC, Mahroo OA, Webster AR, Fujinami K, Michaelides M
Ophthalmol Retina 2025 Mar;9(3):278-287. Epub 2024 Aug 31 doi: 10.1016/j.oret.2024.08.018. PMID: 39218074
Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.
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
Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.
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
Indications and clinical outcomes of capsular tension ring implantation in phacoemulsification surgery at a tertiary teaching hospital: A review of 4316 cataract surgeries.
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
The role of carbonic anhydrase inhibitors in the management of macular edema.
Wolfensberger TJ
Doc Ophthalmol 1999;97(3-4):387-97. doi: 10.1023/a:1002143802926. PMID: 10896355

Recent systematic reviews

Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis.
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
Surgical implantation of steroids with antiangiogenic characteristics for treating neovascular age-related macular degeneration.
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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