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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).
See: Feature record | Search on this feature
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
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.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
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.
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
Hyperautofluorescent retinal lesion
MedGen UID:
1368849
•Concept ID:
C4476623
•
Finding
Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.
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
Erectile disfunction medical treatment with phosphodiesterase 5 inhibitors (PDE5i) in patients with retinitis pigmentosa and side effects.
Cocci A, Romano A, Morelli G, Frediani D, Sodi A, Russo GI
Arch Ital Urol Androl 2020 Dec 18;92(4) doi: 10.4081/aiua.2020.4.326. PMID: 33348949
MRI of rod cell compartment-specific function in disease and treatment in vivo.
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

Genetic dissection of non-syndromic retinitis pigmentosa.
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
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
Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.
Rose AM, Bhattacharya SS
Clin Genet 2016 Aug;90(2):118-26. Epub 2016 Mar 4 doi: 10.1111/cge.12758. PMID: 26853529
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
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
Cilia-related diseases.
Afzelius BA
J Pathol 2004 Nov;204(4):470-7. doi: 10.1002/path.1652. PMID: 15495266Free PMC Article

Diagnosis

Genetic dissection of non-syndromic retinitis pigmentosa.
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
Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.
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
Clinical and genetic investigations in Chinese families with retinitis pigmentosa.
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
Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds.
Bunel M, Chaudieu G, Hamel C, Lagoutte L, Manes G, Botherel N, Brabet P, Pilorge P, André C, Quignon P
Hum Genet 2019 May;138(5):441-453. Epub 2019 Mar 23 doi: 10.1007/s00439-019-01999-6. PMID: 30904946
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
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

Genome Surgery and Gene Therapy in Retinal Disorders.
Chan L, Mahajan VB, Tsang SH
Yale J Biol Med 2017 Dec;90(4):523-532. Epub 2017 Dec 19 PMID: 29259518Free PMC Article
Hsp90 as a Potential Therapeutic Target in Retinal Disease.
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
MRI of rod cell compartment-specific function in disease and treatment in vivo.
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
Effects of lutein and zeaxanthin on aspects of eye health.
Ma L, Lin XM
J Sci Food Agric 2010 Jan 15;90(1):2-12. doi: 10.1002/jsfa.3785. PMID: 20355006
Cilia-related diseases.
Afzelius BA
J Pathol 2004 Nov;204(4):470-7. doi: 10.1002/path.1652. PMID: 15495266Free PMC Article

Prognosis

Genetic dissection of non-syndromic retinitis pigmentosa.
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
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
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
Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP).
Claeys KG, Abicht A, Häusler M, Kleinle S, Wiesmann M, Schulz JB, Horvath R, Weis J
Muscle Nerve 2016 Aug;54(2):328-33. doi: 10.1002/mus.25125. PMID: 27015314
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
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
Unilateral retinitis pigmentosa.
Carr RE, Siegel IM
Arch Ophthalmol 1973 Jul;90(1):21-6. doi: 10.1001/archopht.1973.01000050023005. PMID: 4714794

Clinical prediction guides

Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.
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
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
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
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
Olivier G, Corton M, Intartaglia D, Verbakel SK, Sergouniotis PI, Le Meur G, Dhaenens CM, Naacke H, Avila-Fernández A, Hoyng CB, Klevering J, Bocquet B, Roubertie A, Sénéchal A, Banfi S, Muller A, Hamel CL, Black GC, Conte I, Roosing S, Zanlonghi X, Ayuso C, Meunier I, Manes G
J Med Genet 2021 Aug;58(8):570-578. Epub 2020 Aug 17 doi: 10.1136/jmedgenet-2020-107150. PMID: 32817297
Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.
Rose AM, Bhattacharya SS
Clin Genet 2016 Aug;90(2):118-26. Epub 2016 Mar 4 doi: 10.1111/cge.12758. PMID: 26853529
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
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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