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Retinitis pigmentosa 90(RP90)

MedGen UID:
1733837
Concept ID:
C5436588
Disease or Syndrome
Synonyms: RETINITIS PIGMENTOSA 90; RP90
 
Gene (location): IDH3A (15q25.1)
 
Monarch Initiative: MONDO:0033563
OMIM®: 619007

Definition

Retinitis pigmentosa-90 (RP90) is characterized by early-onset night blindness, within the first decade of life. Patients exhibit other typical features of RP, including retinal vessel attenuation, optic disc pallor, and retinal pigment epithelium (RPE) atrophy and pigmentation abnormalities. Macular pseudocoloboma and cystoid macular edema have also been observed (Pierrache et al., 2017). For a discussion of genetic heterogeneity of RP, see 268000. [from OMIM]

Clinical features

From HPO
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.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
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.
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).
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.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Hyperautofluorescent retinal lesion
MedGen UID:
1368849
Concept ID:
C4476623
Finding
Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.

Professional guidelines

PubMed

Tsutsui S, Murakami Y, Fujiwara K, Koyanagi Y, Akiyama M, Takeda A, Ikeda Y, Sonoda KH
Jpn J Ophthalmol 2024 Jan;68(1):1-11. Epub 2023 Dec 9 doi: 10.1007/s10384-023-01036-0. PMID: 38070066
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
Berkowitz BA, Bissig D, Roberts R
Prog Retin Eye Res 2016 Mar;51:90-106. Epub 2015 Sep 4 doi: 10.1016/j.preteyeres.2015.09.001. PMID: 26344734Free PMC Article

Recent clinical studies

Etiology

Daich Varela M, Wong SW, Kiray G, Schlottmann PG, Arno G, Shams ANA, Mahroo OA, Webster AR, AlTalbishi A, Michaelides M
Am J Ophthalmol 2023 Dec;256:186-195. Epub 2023 Jul 7 doi: 10.1016/j.ajo.2023.06.026. PMID: 37422204Free PMC Article
Bhardwaj A, Yadav A, Yadav M, Tanwar M
Indian J Ophthalmol 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. PMID: 35791117Free PMC Article
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
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article
Afzelius BA
J Pathol 2004 Nov;204(4):470-7. doi: 10.1002/path.1652. PMID: 15495266Free PMC Article

Diagnosis

Daich Varela M, Wong SW, Kiray G, Schlottmann PG, Arno G, Shams ANA, Mahroo OA, Webster AR, AlTalbishi A, Michaelides M
Am J Ophthalmol 2023 Dec;256:186-195. Epub 2023 Jul 7 doi: 10.1016/j.ajo.2023.06.026. PMID: 37422204Free PMC Article
Bhardwaj A, Yadav A, Yadav M, Tanwar M
Indian J Ophthalmol 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. PMID: 35791117Free 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
Chen L, Wang N, Lai M, Hou F, He J, Fan X, Yao X, Wang R
Exp Biol Med (Maywood) 2022 Jun;247(12):1030-1038. Epub 2022 Apr 11 doi: 10.1177/15353702221085711. PMID: 35410501Free PMC Article
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article

Therapy

Chan L, Mahajan VB, Tsang SH
Yale J Biol Med 2017 Dec;90(4):523-532. Epub 2017 Dec 19 PMID: 29259518Free PMC Article
Aguilà M, Cheetham ME
Adv Exp Med Biol 2016;854:161-7. doi: 10.1007/978-3-319-17121-0_22. PMID: 26427407Free PMC Article
Ma L, Lin XM
J Sci Food Agric 2010 Jan 15;90(1):2-12. doi: 10.1002/jsfa.3785. PMID: 20355006
Paskowitz DM, LaVail MM, Duncan JL
Br J Ophthalmol 2006 Aug;90(8):1060-6. Epub 2006 May 17 doi: 10.1136/bjo.2006.097436. PMID: 16707518Free PMC Article
Afzelius BA
J Pathol 2004 Nov;204(4):470-7. doi: 10.1002/path.1652. PMID: 15495266Free PMC Article

Prognosis

Bhardwaj A, Yadav A, Yadav M, Tanwar M
Indian J Ophthalmol 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. PMID: 35791117Free PMC Article
Garg A, Margolin E, Micieli JA
J Neuroophthalmol 2022 Mar 1;42(1):e225-e229. Epub 2021 Jul 27 doi: 10.1097/WNO.0000000000001340. PMID: 34334760
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article
Carr RE, Siegel IM
Arch Ophthalmol 1973 Jul;90(1):21-6. doi: 10.1001/archopht.1973.01000050023005. PMID: 4714794

Clinical prediction guides

Kim DG, Joo K, Han J, Choi M, Kim SW, Park KH, Park SJ, Lee CS, Byeon SH, Woo SJ
Genes (Basel) 2023 May 8;14(5) doi: 10.3390/genes14051057. PMID: 37239417Free 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
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article
Rose AM, Bhattacharya SS
Clin Genet 2016 Aug;90(2):118-26. Epub 2016 Mar 4 doi: 10.1111/cge.12758. PMID: 26853529
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article

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