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Retinitis pigmentosa 85(RP85)

MedGen UID:
1682947
•Concept ID:
C5193041
•
Disease or Syndrome
Synonym: RP85
 
Gene (location): AHR (7p21.1)
 
Monarch Initiative: MONDO:0032689
OMIM®: 618345

Clinical features

From HPO
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Progressive night blindness
MedGen UID:
870373
•Concept ID:
C4024818
•
Finding
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

Professional guidelines

PubMed

Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Molina-Ramírez LP, Lenassi E, Ellingford JM, Sergouniotis PI, Ramsden SC, Bruce IA, Black GCM
Otol Neurotol 2020 Apr;41(4):431-437. doi: 10.1097/MAO.0000000000002588. PMID: 32176120
Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.
Birtel J, Gliem M, Oishi A, Müller PL, Herrmann P, Holz FG, Mangold E, Knapp M, Bolz HJ, Charbel Issa P
Clin Exp Ophthalmol 2019 Aug;47(6):779-786. Epub 2019 May 8 doi: 10.1111/ceo.13516. PMID: 30977268
Genetic Testing in Pediatric Ophthalmology.
Verma IC, Paliwal P, Singh K
Indian J Pediatr 2018 Mar;85(3):228-236. Epub 2017 Oct 2 doi: 10.1007/s12098-017-2453-7. PMID: 28971364

Recent clinical studies

Etiology

Clinical presentation and macular morphology in retinitis pigmentosa patients.
Okonkwo ON, Hassan AO, Agweye CT, Victor U, Akanbi T
Ann Afr Med 2023 Oct-Dec;22(4):451-455. doi: 10.4103/aam.aam_181_22. PMID: 38358145Free PMC Article
Thicknesses of the retina and choroid in children with retinitis pigmentosa.
Li C, Peng C, Zhang C, Li N
BMC Ophthalmol 2023 Jan 17;23(1):25. doi: 10.1186/s12886-023-02772-0. PMID: 36650468Free PMC Article
Prediction of visual impairment in retinitis pigmentosa using deep learning and multimodal fundus images.
Liu TYA, Ling C, Hahn L, Jones CK, Boon CJ, Singh MS
Br J Ophthalmol 2023 Oct;107(10):1484-1489. Epub 2022 Jul 27 doi: 10.1136/bjo-2021-320897. PMID: 35896367Free PMC Article
A review of the immunologic findings observed in retinitis pigmentosa.
McMurtrey JJ, Tso MOM
Surv Ophthalmol 2018 Nov-Dec;63(6):769-781. Epub 2018 Mar 16 doi: 10.1016/j.survophthal.2018.03.002. PMID: 29551596
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y
Invest Ophthalmol Vis Sci 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. PMID: 26780318

Diagnosis

Clinical presentation and macular morphology in retinitis pigmentosa patients.
Okonkwo ON, Hassan AO, Agweye CT, Victor U, Akanbi T
Ann Afr Med 2023 Oct-Dec;22(4):451-455. doi: 10.4103/aam.aam_181_22. PMID: 38358145Free 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
EYS-Associated Sector Retinitis Pigmentosa.
Marques JP, Porto FBO, Carvalho AL, Neves E, Chen R, Sampaio SAM, Murta J, Saraiva J, Silva R
Graefes Arch Clin Exp Ophthalmol 2022 Apr;260(4):1405-1413. Epub 2021 Sep 27 doi: 10.1007/s00417-021-05411-w. PMID: 34568954
Genetic Testing in Pediatric Ophthalmology.
Verma IC, Paliwal P, Singh K
Indian J Pediatr 2018 Mar;85(3):228-236. Epub 2017 Oct 2 doi: 10.1007/s12098-017-2453-7. PMID: 28971364
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y
Invest Ophthalmol Vis Sci 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. PMID: 26780318

Therapy

Tablet-based 'ON/OFF' pathway test can distinguish between rod- and cone-dominated diseases.
Hathibelagal AR, Bhutia P, Das M, Babu H, Jalali S, Takkar B, Paremeswarappa DC, Ballae Ganeshrao S
Ophthalmic Physiol Opt 2023 Mar;43(2):231-238. Epub 2022 Nov 22 doi: 10.1111/opo.13072. PMID: 36416095
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Zhu J, Stephenson KAJ, Dockery A, Turner J, O'Byrne JJ, Fitzsimon S, Farrar GJ, Flitcroft DI, Keegan DJ
Genes (Basel) 2022 Mar 29;13(4) doi: 10.3390/genes13040615. PMID: 35456422Free 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
A comparison of progressive loss of the ellipsoid zone (EZ) band in autosomal dominant and x-linked retinitis pigmentosa.
Cai CX, Locke KG, Ramachandran R, Birch DG, Hood DC
Invest Ophthalmol Vis Sci 2014 Oct 23;55(11):7417-22. doi: 10.1167/iovs.14-15013. PMID: 25342618Free PMC Article
Clinical trials and retinitis pigmentosa.
Newell FW
Am J Ophthalmol 1978 May;85(5 Pt 1):720-1. doi: 10.1016/s0002-9394(14)77115-6. PMID: 350053

Prognosis

Prediction of visual impairment in retinitis pigmentosa using deep learning and multimodal fundus images.
Liu TYA, Ling C, Hahn L, Jones CK, Boon CJ, Singh MS
Br J Ophthalmol 2023 Oct;107(10):1484-1489. Epub 2022 Jul 27 doi: 10.1136/bjo-2021-320897. PMID: 35896367Free 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
Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa.
Lin Y, Xu CL, Breazzano MP, Tanaka AJ, Ryu J, Levi SR, Yao K, Sparrow JR, Tsang SH
Ophthalmic Genet 2020 Feb;41(1):26-30. Epub 2020 Feb 13 doi: 10.1080/13816810.2020.1723116. PMID: 32052671Free PMC Article
Genetic Testing in Pediatric Ophthalmology.
Verma IC, Paliwal P, Singh K
Indian J Pediatr 2018 Mar;85(3):228-236. Epub 2017 Oct 2 doi: 10.1007/s12098-017-2453-7. PMID: 28971364
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y
Invest Ophthalmol Vis Sci 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. PMID: 26780318

Clinical prediction guides

Prediction of visual impairment in retinitis pigmentosa using deep learning and multimodal fundus images.
Liu TYA, Ling C, Hahn L, Jones CK, Boon CJ, Singh MS
Br J Ophthalmol 2023 Oct;107(10):1484-1489. Epub 2022 Jul 27 doi: 10.1136/bjo-2021-320897. PMID: 35896367Free 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
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
A review of the immunologic findings observed in retinitis pigmentosa.
McMurtrey JJ, Tso MOM
Surv Ophthalmol 2018 Nov-Dec;63(6):769-781. Epub 2018 Mar 16 doi: 10.1016/j.survophthal.2018.03.002. PMID: 29551596
Cilium-generated signaling and cilia-related disorders.
Pan J, Wang Q, Snell WJ
Lab Invest 2005 Apr;85(4):452-63. doi: 10.1038/labinvest.3700253. PMID: 15723088

Recent systematic reviews

Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.
Junior JHMF, Junior SP, Pustilnik HN, de Almeida Leão L, da Paz MGDS, Araujo TB, de Deus FOG, Alcântara T, Dourado JC, de Avellar LM
Childs Nerv Syst 2024 Jul;40(7):2161-2168. Epub 2024 Mar 9 doi: 10.1007/s00381-024-06346-3. PMID: 38459147
Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.
Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free 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
Systematic review and meta-synthesis of coping with retinitis pigmentosa: implications for improving quality of life.
Garip G, Kamal A
BMC Ophthalmol 2019 Aug 13;19(1):181. doi: 10.1186/s12886-019-1169-z. PMID: 31409325Free PMC Article

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    • ClinVar
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      Clinical tests in GTR
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      Related records in OMIM
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      OMIM records containing genes associated with phenotypes registered in MedGen
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