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Retinitis pigmentosa 37(RP37)

MedGen UID:
410004
Concept ID:
C1970163
Disease or Syndrome
Synonym: RP37
 
Gene (location): NR2E3 (15q23)
 
Monarch Initiative: MONDO:0012625
OMIM®: 611131

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene. [from MONDO]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Cystoid macular degeneration
MedGen UID:
472900
Concept ID:
C0154850
Disease or Syndrome
A form of macular degeneration characterized by the presence of multiple cysts in the macula.
Red-green dyschromatopsia
MedGen UID:
102324
Concept ID:
C0155016
Disease or Syndrome
Difficulty with discriminating red and green hues.
Blue color blindness
MedGen UID:
57827
Concept ID:
C0155017
Disease or Syndrome
Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992).
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Constriction of peripheral visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
Nuclear cataract
MedGen UID:
140274
Concept ID:
C0392557
Finding
A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.
Posterior subcapsular cataract
MedGen UID:
163646
Concept ID:
C0858617
Acquired Abnormality
A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.
Undetectable light- and dark-adapted electroretinogram
MedGen UID:
867212
Concept ID:
C4021570
Finding
Absence of the combined rod-and-cone response on electroretinogram.
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.
Pigmentary retinopathy
MedGen UID:
1643295
Concept ID:
C4551715
Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Han J, Joo K, Kim US, Woo SJ, Lee EK, Lee JY, Park TK, Kim SJ, Byeon SH
Korean J Ophthalmol 2023 Apr;37(2):166-186. Epub 2023 Mar 23 doi: 10.3341/kjo.2023.0008. PMID: 36950921Free PMC Article
Sung YC, Yang CH, Yang CM, Lin CW, Huang DS, Huang YS, Hu FR, Chen PL, Chen TC
Genes (Basel) 2020 Nov 27;11(12) doi: 10.3390/genes11121421. PMID: 33261146Free PMC Article
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

Monavarfeshani A, Yan W, Pappas C, Odenigbo KA, He Z, Segrè AV, van Zyl T, Hageman GS, Sanes JR
Proc Natl Acad Sci U S A 2023 Aug 22;120(34):e2306153120. Epub 2023 Aug 11 doi: 10.1073/pnas.2306153120. PMID: 37566633Free PMC Article
Suga A, Yoshitake K, Minematsu N, Tsunoda K, Fujinami K, Miyake Y, Kuniyoshi K, Hayashi T, Mizobuchi K, Ueno S, Terasaki H, Kominami T, Nao-I N, Mawatari G, Mizota A, Shinoda K, Kondo M, Kato K, Sekiryu T, Nakamura M, Kusuhara S, Yamamoto H, Yamamoto S, Mochizuki K, Kondo H, Matsushita I, Kameya S, Fukuchi T, Hatase T, Horiguchi M, Shimada Y, Tanikawa A, Yamamoto S, Miura G, Ito N, Murakami A, Fujimaki T, Hotta Y, Tanaka K, Iwata T
Hum Mutat 2022 Dec;43(12):2251-2264. Epub 2022 Nov 7 doi: 10.1002/humu.24492. PMID: 36284460
Ito N, Miura G, Shiko Y, Kawasaki Y, Baba T, Yamamoto S
Biomed Res Int 2022;2022:7204954. Epub 2022 Jul 14 doi: 10.1155/2022/7204954. PMID: 35872870Free PMC Article
Hou M, Bao X, Liu L, Ding Y, Luo F, Wu M
Int Ophthalmol 2021 Nov;41(11):3631-3639. Epub 2021 Jun 27 doi: 10.1007/s10792-021-01935-6. PMID: 34180018
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article

Diagnosis

Abdolrahimzadeh S, Di Pippo M, Ciancimino C, Di Staso F, Lotery AJ
Eye (Lond) 2023 Jun;37(9):1766-1773. Epub 2022 Oct 7 doi: 10.1038/s41433-022-02270-5. PMID: 36207507Free PMC Article
Suga A, Yoshitake K, Minematsu N, Tsunoda K, Fujinami K, Miyake Y, Kuniyoshi K, Hayashi T, Mizobuchi K, Ueno S, Terasaki H, Kominami T, Nao-I N, Mawatari G, Mizota A, Shinoda K, Kondo M, Kato K, Sekiryu T, Nakamura M, Kusuhara S, Yamamoto H, Yamamoto S, Mochizuki K, Kondo H, Matsushita I, Kameya S, Fukuchi T, Hatase T, Horiguchi M, Shimada Y, Tanikawa A, Yamamoto S, Miura G, Ito N, Murakami A, Fujimaki T, Hotta Y, Tanaka K, Iwata T
Hum Mutat 2022 Dec;43(12):2251-2264. Epub 2022 Nov 7 doi: 10.1002/humu.24492. PMID: 36284460
Hou M, Bao X, Liu L, Ding Y, Luo F, Wu M
Int Ophthalmol 2021 Nov;41(11):3631-3639. Epub 2021 Jun 27 doi: 10.1007/s10792-021-01935-6. PMID: 34180018
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
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

Özmert E, Arslan U
Stem Cell Res Ther 2020 Aug 12;11(1):353. doi: 10.1186/s13287-020-01870-w. PMID: 32787913Free PMC Article
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
Camacho ET, Lenhart S, Melara LA, Villalobos MC, Wirkus S
Math Med Biol 2020 Feb 28;37(1):1-21. doi: 10.1093/imammb/dqz003. PMID: 30810166
Moore NA, Morral N, Ciulla TA, Bracha P
Expert Opin Biol Ther 2018 Jan;18(1):37-49. Epub 2017 Oct 23 doi: 10.1080/14712598.2018.1389886. PMID: 29057663
Mansour AM, Sheheitli H, Kucukerdonmez C, Sisk RA, Moura R, Moschos MM, Lima LH, Al-Shaar L, Arevalo JF, Maia M, Foster RE, Kayikcioglu O, Kozak I, Kurup S, Zegarra H, Gallego-Pinazo R, Hamam RN, Bejjani RA, Cinar E, Erakgün ET, Kimura A, Teixeira A
Retina 2018 Feb;38(2):416-423. doi: 10.1097/IAE.0000000000001542. PMID: 28221257

Prognosis

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
Ito N, Miura G, Shiko Y, Kawasaki Y, Baba T, Yamamoto S
Biomed Res Int 2022;2022:7204954. Epub 2022 Jul 14 doi: 10.1155/2022/7204954. PMID: 35872870Free PMC Article
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Xu M, Zhai Y, MacDonald IM
Invest Ophthalmol Vis Sci 2020 Jun 3;61(6):56. doi: 10.1167/iovs.61.6.56. PMID: 32589198Free PMC Article
Liew G, Strong S, Bradley P, Severn P, Moore AT, Webster AR, Mitchell P, Kifley A, Michaelides M
Br J Ophthalmol 2019 Aug;103(8):1163-1166. Epub 2018 Oct 5 doi: 10.1136/bjophthalmol-2018-311964. PMID: 30291136

Clinical prediction guides

Arrigo A, Aragona E, Perra C, Saladino A, Amato A, Bianco L, Pina A, Basile G, Bandello F, Battaglia Parodi M
Eye (Lond) 2023 May;37(7):1424-1431. Epub 2022 Jun 29 doi: 10.1038/s41433-022-02139-7. PMID: 35768721Free PMC Article
Suga A, Yoshitake K, Minematsu N, Tsunoda K, Fujinami K, Miyake Y, Kuniyoshi K, Hayashi T, Mizobuchi K, Ueno S, Terasaki H, Kominami T, Nao-I N, Mawatari G, Mizota A, Shinoda K, Kondo M, Kato K, Sekiryu T, Nakamura M, Kusuhara S, Yamamoto H, Yamamoto S, Mochizuki K, Kondo H, Matsushita I, Kameya S, Fukuchi T, Hatase T, Horiguchi M, Shimada Y, Tanikawa A, Yamamoto S, Miura G, Ito N, Murakami A, Fujimaki T, Hotta Y, Tanaka K, Iwata T
Hum Mutat 2022 Dec;43(12):2251-2264. Epub 2022 Nov 7 doi: 10.1002/humu.24492. PMID: 36284460
Kim JH, Han JW, Choi EW, Bang JH, Shin HJ, Jang MA, Lee JY, Choi JN, Chang HS, Park TK
J Korean Med Sci 2022 Jan 17;37(3):e5. doi: 10.3346/jkms.2022.37.e5. PMID: 35040292Free PMC Article
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
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

Recent systematic reviews

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

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