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Retinitis pigmentosa 33(RP33)

MedGen UID:
332080
•Concept ID:
C1835895
•
Disease or Syndrome
Synonyms: RP 33; RP33
 
Gene (location): SNRNP200 (2q11.2)
 
Monarch Initiative: MONDO:0012477
OMIM®: 610359

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene. [from MONDO]

Clinical features

From HPO
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 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
Bone spicule pigmentation of the retina
MedGen UID:
323029
•Concept ID:
C1836926
•
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
See: Feature record | Search on this feature
Retinal pigment epithelial atrophy
MedGen UID:
333564
•Concept ID:
C1840457
•
Finding
Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.
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
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.
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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
Wang Y, Wang J, Jiang Y, Zhu D, Ouyang J, Yi Z, Li S, Jia X, Xiao X, Sun W, Wang P, Zhang Q
Int J Mol Sci 2023 Apr 4;24(7) doi: 10.3390/ijms24076728. PMID: 37047703Free PMC Article
Management of retinitis pigmentosa by Wharton's jelly derived mesenchymal stem cells: preliminary clinical results.
Özmert E, Arslan U
Stem Cell Res Ther 2020 Jan 13;11(1):25. doi: 10.1186/s13287-020-1549-6. PMID: 31931872Free PMC Article
Treatment of ocular disorders by gene therapy.
Solinís MÁ, del Pozo-Rodríguez A, Apaolaza PS, Rodríguez-Gascón A
Eur J Pharm Biopharm 2015 Sep;95(Pt B):331-42. Epub 2014 Dec 20 doi: 10.1016/j.ejpb.2014.12.022. PMID: 25536112

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
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.
Testa F, Murro V, Signorini S, Colombo L, Iarossi G, Parmeggiani F, Falsini B, Salvetti AP, Brunetti-Pierri R, Aprile G, Bertone C, Suppiej A, Romano F, Karali M, Donati S, Melillo P, Sodi A, Quaranta L, Rossetti L, Buzzonetti L, Chizzolini M, Rizzo S, Staurenghi G, Banfi S, Azzolini C, Simonelli F
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):13. doi: 10.1167/iovs.63.2.13. PMID: 35129589Free PMC Article
A Global Assessment of Eye Health and Quality of Life: A Systematic Review of Systematic Reviews.
Assi L, Chamseddine F, Ibrahim P, Sabbagh H, Rosman L, Congdon N, Evans J, Ramke J, Kuper H, Burton MJ, Ehrlich JR, Swenor BK
JAMA Ophthalmol 2021 May 1;139(5):526-541. doi: 10.1001/jamaophthalmol.2021.0146. PMID: 33576772Free PMC Article
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
Retinitis pigmentosa.
Pagon RA
Surv Ophthalmol 1988 Nov-Dec;33(3):137-77. doi: 10.1016/0039-6257(88)90085-9. PMID: 3068820

Diagnosis

RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.
Testa F, Murro V, Signorini S, Colombo L, Iarossi G, Parmeggiani F, Falsini B, Salvetti AP, Brunetti-Pierri R, Aprile G, Bertone C, Suppiej A, Romano F, Karali M, Donati S, Melillo P, Sodi A, Quaranta L, Rossetti L, Buzzonetti L, Chizzolini M, Rizzo S, Staurenghi G, Banfi S, Azzolini C, Simonelli F
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):13. doi: 10.1167/iovs.63.2.13. PMID: 35129589Free PMC Article
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
CRB1 mutations in inherited retinal dystrophies.
Bujakowska K, Audo I, Mohand-Saïd S, Lancelot ME, Antonio A, Germain A, Léveillard T, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Sahel JA, Bhattacharya SS, Zeitz C
Hum Mutat 2012 Feb;33(2):306-15. Epub 2011 Dec 27 doi: 10.1002/humu.21653. PMID: 22065545Free PMC Article
Retinitis pigmentosa and the rhodopsin gene.
Shokravi MT, Dryja TP
Int Ophthalmol Clin 1993 Spring;33(2):219-28. doi: 10.1097/00004397-199303320-00020. PMID: 8325735
Retinitis pigmentosa.
Pagon RA
Surv Ophthalmol 1988 Nov-Dec;33(3):137-77. doi: 10.1016/0039-6257(88)90085-9. PMID: 3068820

Therapy

Glucagon-like peptide-1 analogues in monogenic syndromic obesity: Real-world data from a large cohort of Alström syndrome patients.
Ali S, Baig S, Wanninayake S, da Silva Xavier G, Dawson C, Paisey R, Geberhiwot T
Diabetes Obes Metab 2024 Mar;26(3):989-996. Epub 2023 Dec 27 doi: 10.1111/dom.15398. PMID: 38151964
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
Novel function of VEGF-B as an antioxidant and therapeutic implications.
Chen R, Lee C, Lin X, Zhao C, Li X
Pharmacol Res 2019 May;143:33-39. Epub 2019 Mar 6 doi: 10.1016/j.phrs.2019.03.002. PMID: 30851357
Subretinal Visual Implant Alpha IMS--Clinical trial interim report.
Stingl K, Bartz-Schmidt KU, Besch D, Chee CK, Cottriall CL, Gekeler F, Groppe M, Jackson TL, MacLaren RE, Koitschev A, Kusnyerik A, Neffendorf J, Nemeth J, Naeem MA, Peters T, Ramsden JD, Sachs H, Simpson A, Singh MS, Wilhelm B, Wong D, Zrenner E
Vision Res 2015 Jun;111(Pt B):149-60. Epub 2015 Mar 23 doi: 10.1016/j.visres.2015.03.001. PMID: 25812924
Gelastic epilepsy.
Gumpert J, Hansotia P, Upton A
J Neurol Neurosurg Psychiatry 1970 Aug;33(4):479-83. doi: 10.1136/jnnp.33.4.479. PMID: 5505675Free PMC Article

Prognosis

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
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.
Testa F, Murro V, Signorini S, Colombo L, Iarossi G, Parmeggiani F, Falsini B, Salvetti AP, Brunetti-Pierri R, Aprile G, Bertone C, Suppiej A, Romano F, Karali M, Donati S, Melillo P, Sodi A, Quaranta L, Rossetti L, Buzzonetti L, Chizzolini M, Rizzo S, Staurenghi G, Banfi S, Azzolini C, Simonelli F
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):13. doi: 10.1167/iovs.63.2.13. PMID: 35129589Free PMC Article
Predictive and Precision Medicine with Genomic Data.
Baudhuin LM, Biesecker LG, Burke W, Green ED, Green RC
Clin Chem 2020 Jan 1;66(1):33-41. doi: 10.1373/clinchem.2019.304345. PMID: 31843866
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
General pathophysiology in retinal degeneration.
Wert KJ, Lin JH, Tsang SH
Dev Ophthalmol 2014;53:33-43. Epub 2014 Apr 10 doi: 10.1159/000357294. PMID: 24732759Free PMC Article

Clinical prediction guides

Glucagon-like peptide-1 analogues in monogenic syndromic obesity: Real-world data from a large cohort of Alström syndrome patients.
Ali S, Baig S, Wanninayake S, da Silva Xavier G, Dawson C, Paisey R, Geberhiwot T
Diabetes Obes Metab 2024 Mar;26(3):989-996. Epub 2023 Dec 27 doi: 10.1111/dom.15398. PMID: 38151964
A Global Assessment of Eye Health and Quality of Life: A Systematic Review of Systematic Reviews.
Assi L, Chamseddine F, Ibrahim P, Sabbagh H, Rosman L, Congdon N, Evans J, Ramke J, Kuper H, Burton MJ, Ehrlich JR, Swenor BK
JAMA Ophthalmol 2021 May 1;139(5):526-541. doi: 10.1001/jamaophthalmol.2021.0146. PMID: 33576772Free PMC Article
Predictive and Precision Medicine with Genomic Data.
Baudhuin LM, Biesecker LG, Burke W, Green ED, Green RC
Clin Chem 2020 Jan 1;66(1):33-41. doi: 10.1373/clinchem.2019.304345. PMID: 31843866
Altered airway ciliary orientation in patients with X-linked retinitis pigmentosa.
McCray G, Griffin P, Martinello P, de Iongh R, Ruddle J, Robinson P
Thorax 2019 Sep;74(9):914-916. Epub 2019 May 20 doi: 10.1136/thoraxjnl-2018-212584. PMID: 31110053
Subretinal Visual Implant Alpha IMS--Clinical trial interim report.
Stingl K, Bartz-Schmidt KU, Besch D, Chee CK, Cottriall CL, Gekeler F, Groppe M, Jackson TL, MacLaren RE, Koitschev A, Kusnyerik A, Neffendorf J, Nemeth J, Naeem MA, Peters T, Ramsden JD, Sachs H, Simpson A, Singh MS, Wilhelm B, Wong D, Zrenner E
Vision Res 2015 Jun;111(Pt B):149-60. Epub 2015 Mar 23 doi: 10.1016/j.visres.2015.03.001. PMID: 25812924

Recent systematic reviews

Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.
Junior JHMF, Junior SP, Pustilnik HN, de Almeida Leão L, da Paz MGDS, Araujo TB, de Deus FOG, Alcântara T, Dourado JC, de Avellar LM
Childs Nerv Syst 2024 Jul;40(7):2161-2168. Epub 2024 Mar 9 doi: 10.1007/s00381-024-06346-3. PMID: 38459147
Noninvasive electrical stimulation as a neuroprotective strategy in retinal diseases: a systematic review of preclinical studies.
Li J, Zhou W, Liang L, Li Y, Xu K, Li X, Huang Z, Jin Y
J Transl Med 2024 Jan 6;22(1):28. doi: 10.1186/s12967-023-04766-4. PMID: 38184580Free PMC Article
Diagnostic accuracy of artificial intelligence in detecting retinitis pigmentosa: A systematic review and meta-analysis.
Musleh AM, AlRyalat SA, Abid MN, Salem Y, Hamila HM, Sallam AB
Surv Ophthalmol 2024 May-Jun;69(3):411-417. Epub 2023 Dec 1 doi: 10.1016/j.survophthal.2023.11.010. PMID: 38042377
Outcomes of cochlear implantation in Usher syndrome: a systematic review.
Cornwall HL, Lam CM, Chaudhry D, Muzaffar J, Monksfield P, Bance ML
Eur Arch Otorhinolaryngol 2024 Mar;281(3):1115-1129. Epub 2023 Nov 6 doi: 10.1007/s00405-023-08304-2. PMID: 37930386Free PMC Article
A Global Assessment of Eye Health and Quality of Life: A Systematic Review of Systematic Reviews.
Assi L, Chamseddine F, Ibrahim P, Sabbagh H, Rosman L, Congdon N, Evans J, Ramke J, Kuper H, Burton MJ, Ehrlich JR, Swenor BK
JAMA Ophthalmol 2021 May 1;139(5):526-541. doi: 10.1001/jamaophthalmol.2021.0146. PMID: 33576772Free PMC Article

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