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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
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
Next-generation genetic testing for retinitis pigmentosa.
Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H
Hum Mutat 2012 Jun;33(6):963-72. Epub 2012 Mar 19 doi: 10.1002/humu.22045. PMID: 22334370Free PMC Article

Recent clinical studies

Etiology

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
Thiol/disulfide homeostasis in retinitis pigmentosa patients.
Ertan E, Duman R, Duman R, Erel Ö, Balik AR
Eur J Ophthalmol 2021 Mar;31(2):572-577. Epub 2020 Feb 5 doi: 10.1177/1120672120902285. PMID: 32024375
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
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
Retinitis pigmentosa.
Pagon RA
Surv Ophthalmol 1988 Nov-Dec;33(3):137-77. doi: 10.1016/0039-6257(88)90085-9. PMID: 3068820

Diagnosis

Functional Vision in Patients With Biallelic USH2A Variants.
Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY; Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol 2024 Apr;260:200-211. Epub 2023 Dec 21 doi: 10.1016/j.ajo.2023.12.009. PMID: 38135239
RETINITIS PIGMENTOSA SINE PIGMENTO: Clinical Spectrum and Pigment Development.
Lee EK, Lee SY, Ma DJ, Yoon CK, Park UC, Yu HG
Retina 2022 Apr 1;42(4):807-815. doi: 10.1097/IAE.0000000000003367. PMID: 34907125
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 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

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
Corneal characteristics in patients with retinitis pigmentosa.
Zeki Fikret C, Ucgun NI, Karaca EE, Evren Kemer O
Photodiagnosis Photodyn Ther 2023 Jun;42:103554. Epub 2023 Apr 6 doi: 10.1016/j.pdpdt.2023.103554. PMID: 37030435
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
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
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

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, Michaelides M
Ophthalmology 2023 Dec;130(12):1327-1335. Epub 2023 Aug 5 doi: 10.1016/j.ophtha.2023.07.027. PMID: 37544434Free PMC Article
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Feenstra HM, Al-Khuzaei S, Shah M, Broadgate S, Shanks M, Kamath A, Yu J, Jolly JK, MacLaren RE, Clouston P, Halford S, Downes SM
Genes (Basel) 2022 Aug 10;13(8) doi: 10.3390/genes13081423. PMID: 36011334Free PMC Article
RETINITIS PIGMENTOSA SINE PIGMENTO: Clinical Spectrum and Pigment Development.
Lee EK, Lee SY, Ma DJ, Yoon CK, Park UC, Yu HG
Retina 2022 Apr 1;42(4):807-815. doi: 10.1097/IAE.0000000000003367. PMID: 34907125
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

Functional Vision in Patients With Biallelic USH2A Variants.
Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY; Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol 2024 Apr;260:200-211. Epub 2023 Dec 21 doi: 10.1016/j.ajo.2023.12.009. PMID: 38135239
Association of Circulating Antiretinal Antibodies With Clinical Outcomes in Retinitis Pigmentosa.
Bianco L, Arrigo A, Antropoli A, Del Fabbro S, Panina-Bordignon P, Peri C, Brambilla E, Pina A, Basile G, Hassan Farah R, Saladino A, Aragona E, Cascavilla ML, Bandello F, Battaglia Parodi M, Pulido JS
Invest Ophthalmol Vis Sci 2023 Dec 1;64(15):13. doi: 10.1167/iovs.64.15.13. PMID: 38088826Free PMC Article
Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, Michaelides M
Ophthalmology 2023 Dec;130(12):1327-1335. Epub 2023 Aug 5 doi: 10.1016/j.ophtha.2023.07.027. PMID: 37544434Free PMC Article
CEP19-RABL2-IFT-B axis controls BBSome-mediated ciliary GPCR export.
Zhou Z, Katoh Y, Nakayama K
Mol Biol Cell 2022 Nov 1;33(13):ar126. Epub 2022 Sep 8 doi: 10.1091/mbc.E22-05-0161. PMID: 36074075Free 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

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
Cost-of-illness studies of inherited retinal diseases: a systematic review.
Ng QX, Ong C, Yaow CYL, Chan HW, Thumboo J, Wang Y, Koh GCH
Orphanet J Rare Dis 2024 Feb 29;19(1):93. doi: 10.1186/s13023-024-03099-9. PMID: 38424595Free 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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