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Retinitis pigmentosa 83(RP83)

MedGen UID:
1648404
Concept ID:
C4748536
Disease or Syndrome
Synonym: RP83
 
Gene (location): ARL3 (10q24.32)
 
Monarch Initiative: MONDO:0032577
OMIM®: 618173

Definition

Retinitis pigmentosa-83 (RP83) is characterized by onset of night blindness in the first decade of life, with decreased central vision in the second decade of life in association with retinal degeneration. The retinal dystrophy is associated with cataract, and macular edema has also been reported in some patients (Holtan et al., 2019). [from OMIM]

Clinical features

From HPO
Vitreous floaters
MedGen UID:
5217
Concept ID:
C0016242
Finding
Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent.
Cystoid macular edema
MedGen UID:
7435
Concept ID:
C0024440
Disease or Syndrome
Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al., 2015).
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
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.
Asteroid hyalosis
MedGen UID:
636821
Concept ID:
C0521770
Disease or Syndrome
The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.
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.
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).
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
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.

Professional guidelines

PubMed

Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Talsma HE, Florijn RJ, Ten Brink JB, Cremers FPM, Thiadens AAHJ, van den Born LI, Hoyng CB, Meester-Smoor MA, Bergen AA, Boon CJF
Acta Ophthalmol 2021 May;99(3):e402-e414. Epub 2021 Feb 2 doi: 10.1111/aos.14597. PMID: 33528094Free PMC Article
Liu X, Li J, Lin S, Xiao X, Luo J, Wei W, Ling Y, Fang L, Xiao H, Chen L, Huang J, Zhong Y, Zhang Q
Exp Eye Res 2020 Aug;197:108118. Epub 2020 Jun 17 doi: 10.1016/j.exer.2020.108118. PMID: 32562694
Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E
Hum Mutat 2011 Jun;32(6):610-9. Epub 2011 Mar 22 doi: 10.1002/humu.21480. PMID: 21344540

Recent clinical studies

Etiology

Birtel J, Caswell R, De Silva SR, Herrmann P, Rehman S, Lotery AJ, Mahroo OA, Michaelides M, Webster AR, MacLaren RE, Charbel Issa P
Am J Ophthalmol 2024 Feb;258:32-42. Epub 2023 Oct 6 doi: 10.1016/j.ajo.2023.10.002. PMID: 37806544
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
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
Gao F, Wang J, Chen J, Wang X, Chen Y, Sun X
Graefes Arch Clin Exp Ophthalmol 2021 Aug;259(8):2379-2387. Epub 2021 Apr 19 doi: 10.1007/s00417-021-05172-6. PMID: 33876278Free PMC Article
Gao FJ, Li JK, Chen H, Hu FY, Zhang SH, Qi YH, Xu P, Wang DD, Wang LS, Chang Q, Zhang YJ, Liu W, Li W, Wang M, Chen F, Xu GZ, Wu JH
Ophthalmology 2019 Nov;126(11):1549-1556. Epub 2019 May 1 doi: 10.1016/j.ophtha.2019.04.038. PMID: 31054281

Diagnosis

Birtel J, Caswell R, De Silva SR, Herrmann P, Rehman S, Lotery AJ, Mahroo OA, Michaelides M, Webster AR, MacLaren RE, Charbel Issa P
Am J Ophthalmol 2024 Feb;258:32-42. Epub 2023 Oct 6 doi: 10.1016/j.ajo.2023.10.002. PMID: 37806544
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
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
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH
J Med Genet 2019 Oct;56(10):662-670. Epub 2019 Jun 17 doi: 10.1136/jmedgenet-2018-105691. PMID: 31213501
Gao FJ, Li JK, Chen H, Hu FY, Zhang SH, Qi YH, Xu P, Wang DD, Wang LS, Chang Q, Zhang YJ, Liu W, Li W, Wang M, Chen F, Xu GZ, Wu JH
Ophthalmology 2019 Nov;126(11):1549-1556. Epub 2019 May 1 doi: 10.1016/j.ophtha.2019.04.038. PMID: 31054281

Therapy

Rizzo S, Barale PO, Ayello-Scheer S, Devenyi RG, Delyfer MN, Korobelnik JF, Rachitskaya A, Yuan A, Jayasundera KT, Zacks DN, Handa JT, Montezuma SR, Koozekanani D, Stanga PE, da Cruz L, Walter P, Augustin AJ, Chizzolini M, Olmos de Koo LC, Ho AC, Kirchhof B, Hahn P, Vajzovic L, Iezzi R Jr, Gaucher D, Arevalo JF, Gregori NZ, Grisanti S, Özmert E, Yoon YH, Kokame GT, Lim JI, Szurman P, de Juan E Jr, Rezende FA, Salzmann J, Richard G, Huang SS, Merlini F, Patel U, Cruz C, Greenberg RJ, Justus S, Cinelli L, Humayun MS
Retina 2020 Feb;40(2):303-311. doi: 10.1097/IAE.0000000000002394. PMID: 31972801
Luithardt AF, Meisner C, Monhart M, Krapp E, Mast A, Schiefer U
Br J Ophthalmol 2015 Jan;99(1):11-5. Epub 2014 Jul 22 doi: 10.1136/bjophthalmol-2013-304535. PMID: 25053761
Kim YJ, Joe SG, Lee DH, Lee JY, Kim JG, Yoon YH
Invest Ophthalmol Vis Sci 2013 Feb 1;54(2):1303-9. doi: 10.1167/iovs.12-10149. PMID: 23329664
Lund R
Arch Soc Esp Oftalmol 2008 Aug;83(8):457-64. PMID: 18661440
Refson K, Jackson AJ, Dusoir AE, Archer DB
Br J Ophthalmol 1999 Apr;83(4):470-7. doi: 10.1136/bjo.83.4.470. PMID: 10434873Free PMC Article

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
Antaki F, Coussa RG, Kahwati G, Hammamji K, Sebag M, Duval R
Br J Ophthalmol 2023 Jan;107(1):90-95. Epub 2021 Aug 3 doi: 10.1136/bjophthalmol-2021-319030. PMID: 34344669
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
Rishi E, Rishi P, Bhende M, Koundanya VV, Sidramayya R, Maitray A, Rao C, Susvar P, Bhende P, Sharma T
Ophthalmol Retina 2018 Jan;2(1):10-16. Epub 2017 May 24 doi: 10.1016/j.oret.2017.03.012. PMID: 31047295
Petäjä-Repo UE, Lackman JJ
Pharmacol Res 2014 May;83:52-62. Epub 2013 Dec 16 doi: 10.1016/j.phrs.2013.12.001. PMID: 24355364

Clinical prediction guides

Birtel J, Caswell R, De Silva SR, Herrmann P, Rehman S, Lotery AJ, Mahroo OA, Michaelides M, Webster AR, MacLaren RE, Charbel Issa P
Am J Ophthalmol 2024 Feb;258:32-42. Epub 2023 Oct 6 doi: 10.1016/j.ajo.2023.10.002. PMID: 37806544
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
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
Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S
Int J Mol Sci 2021 Feb 27;22(5) doi: 10.3390/ijms22052374. PMID: 33673512Free PMC Article
Rishi E, Rishi P, Bhende M, Koundanya VV, Sidramayya R, Maitray A, Rao C, Susvar P, Bhende P, Sharma T
Ophthalmol Retina 2018 Jan;2(1):10-16. Epub 2017 May 24 doi: 10.1016/j.oret.2017.03.012. PMID: 31047295

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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