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Retinitis pigmentosa 39(RP39)

MedGen UID:
462488
•Concept ID:
C3151138
•
Disease or Syndrome
Synonym: RP39
 
Gene (location): USH2A (1q41)
 
Monarch Initiative: MONDO:0013436
OMIM®: 613809

Definition

Retinitis pigmentosa-39 (RP39) is characterized by the typical features of RP, including constriction of visual fields and reduced vision, with the fundus showing bone-spicule pigment deposition and attenuation of retinal vessels (Kaiserman et al., 2007; Jung et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. [from OMIM]

Clinical features

From HPO
Abnormal electroretinogram
MedGen UID:
96908
•Concept ID:
C0476397
•
Finding
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
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
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
Visual field defect
MedGen UID:
854603
•Concept ID:
C3887875
•
Finding
An absolute or relative reduction in the extent of the normal field of vision.
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

Management of Retinitis Pigmentosa Via Wharton's Jelly-Derived Mesenchymal Stem Cells or Combination With Magnovision: 3-Year Prospective Results.
Ozmert E, Arslan U
Stem Cells Transl Med 2023 Oct 5;12(10):631-650. doi: 10.1093/stcltm/szad051. PMID: 37713598Free PMC Article
Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
Shah M, Shanks M, Packham E, Williams J, Haysmoore J, MacLaren RE, Németh AH, Clouston P, Downes SM
Ophthalmic Genet 2020 Aug;41(4):331-337. Epub 2020 Jun 16 doi: 10.1080/13816810.2020.1778736. PMID: 32543920
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

Recent clinical studies

Etiology

Foveal Hypoplasia in CRB1-Related Retinopathies.
Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M
Int J Mol Sci 2023 Sep 11;24(18) doi: 10.3390/ijms241813932. PMID: 37762234Free PMC Article
Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK
Ophthalmic Genet 2023 Aug;44(4):352-360. Epub 2023 Apr 4 doi: 10.1080/13816810.2023.2196338. PMID: 37013444
Cataract surgery in retinitis pigmentosa.
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.
Zhu T, Chen DF, Wang L, Wu S, Wei X, Li H, Jin ZB, Sui R
Br J Ophthalmol 2021 May;105(5):694-703. Epub 2020 Jul 16 doi: 10.1136/bjophthalmol-2019-315786. PMID: 32675063
Gene therapy in inherited retinal degenerative diseases, a review.
Takahashi VKL, Takiuti JT, Jauregui R, Tsang SH
Ophthalmic Genet 2018 Oct;39(5):560-568. Epub 2018 Jul 24 doi: 10.1080/13816810.2018.1495745. PMID: 30040511

Diagnosis

Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK
Ophthalmic Genet 2023 Aug;44(4):352-360. Epub 2023 Apr 4 doi: 10.1080/13816810.2023.2196338. PMID: 37013444
Cataract surgery in retinitis pigmentosa.
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.
Georgiou M, Grewal PS, Narayan A, Alser M, Ali N, Fujinami K, Webster AR, Michaelides M
Am J Ophthalmol 2021 Jan;221:299-310. Epub 2020 Aug 12 doi: 10.1016/j.ajo.2020.08.004. PMID: 32795431Free PMC Article
Therapeutic potential of curcumin in major retinal pathologies.
Peddada KV, Brown A, Verma V, Nebbioso M
Int Ophthalmol 2019 Mar;39(3):725-734. Epub 2018 Feb 5 doi: 10.1007/s10792-018-0845-y. PMID: 29404861
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
Kimchi A, Khateb S, Wen R, Guan Z, Obolensky A, Beryozkin A, Kurtzman S, Blumenfeld A, Pras E, Jacobson SG, Ben-Yosef T, Newman H, Sharon D, Banin E
Ophthalmology 2018 May;125(5):725-734. Epub 2017 Dec 22 doi: 10.1016/j.ophtha.2017.11.014. PMID: 29276052

Therapy

Cell therapy for retinal degenerative disorders: a systematic review and three-level meta-analysis.
Khaboushan AS, Ebadpour N, Moghadam MMJ, Rezaee Z, Kajbafzadeh AM, Zolbin MM
J Transl Med 2024 Mar 2;22(1):227. doi: 10.1186/s12967-024-05016-x. PMID: 38431596Free PMC Article
Gene therapy for RPE65-related retinal disease.
Miraldi Utz V, Coussa RG, Antaki F, Traboulsi EI
Ophthalmic Genet 2018 Dec;39(6):671-677. Epub 2018 Oct 18 doi: 10.1080/13816810.2018.1533027. PMID: 30335549
Gene therapy in inherited retinal degenerative diseases, a review.
Takahashi VKL, Takiuti JT, Jauregui R, Tsang SH
Ophthalmic Genet 2018 Oct;39(5):560-568. Epub 2018 Jul 24 doi: 10.1080/13816810.2018.1495745. PMID: 30040511
Therapeutic Potential of Co-enzyme Q10 in Retinal Diseases.
Zhang X, Tohari AM, Marcheggiani F, Zhou X, Reilly J, Tiano L, Shu X
Curr Med Chem 2017;24(39):4329-4339. doi: 10.2174/0929867324666170801100516. PMID: 28762311
Therapeutic Approaches to Histone Reprogramming in Retinal Degeneration.
Berner AK, Kleinman ME
Adv Exp Med Biol 2016;854:39-44. doi: 10.1007/978-3-319-17121-0_6. PMID: 26427391Free PMC Article

Prognosis

Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK
Ophthalmic Genet 2023 Aug;44(4):352-360. Epub 2023 Apr 4 doi: 10.1080/13816810.2023.2196338. PMID: 37013444
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
Cataract surgery in retinitis pigmentosa.
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.
Georgiou M, Grewal PS, Narayan A, Alser M, Ali N, Fujinami K, Webster AR, Michaelides M
Am J Ophthalmol 2021 Jan;221:299-310. Epub 2020 Aug 12 doi: 10.1016/j.ajo.2020.08.004. PMID: 32795431Free 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

Clinical prediction guides

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
Foveal Hypoplasia in CRB1-Related Retinopathies.
Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M
Int J Mol Sci 2023 Sep 11;24(18) doi: 10.3390/ijms241813932. PMID: 37762234Free PMC Article
Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK
Ophthalmic Genet 2023 Aug;44(4):352-360. Epub 2023 Apr 4 doi: 10.1080/13816810.2023.2196338. PMID: 37013444
Cataract surgery in retinitis pigmentosa.
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.
Georgiou M, Grewal PS, Narayan A, Alser M, Ali N, Fujinami K, Webster AR, Michaelides M
Am J Ophthalmol 2021 Jan;221:299-310. Epub 2020 Aug 12 doi: 10.1016/j.ajo.2020.08.004. PMID: 32795431Free PMC Article

Recent systematic reviews

Cell therapy for retinal degenerative disorders: a systematic review and three-level meta-analysis.
Khaboushan AS, Ebadpour N, Moghadam MMJ, Rezaee Z, Kajbafzadeh AM, Zolbin MM
J Transl Med 2024 Mar 2;22(1):227. doi: 10.1186/s12967-024-05016-x. PMID: 38431596Free PMC Article
Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.
Sallum JMF, Kaur VP, Shaikh J, Banhazi J, Spera C, Aouadj C, Viriato D, Fischer MD
Adv Ther 2022 Mar;39(3):1179-1198. Epub 2022 Jan 30 doi: 10.1007/s12325-021-02036-7. PMID: 35098484Free 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
Genetics of Usher Syndrome: New Insights From a Meta-analysis.
Jouret G, Poirsier C, Spodenkiewicz M, Jaquin C, Gouy E, Arndt C, Labrousse M, Gaillard D, Doco-Fenzy M, Lebre AS
Otol Neurotol 2019 Jan;40(1):121-129. doi: 10.1097/MAO.0000000000002054. PMID: 30531642

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