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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

Metabolomics facilitates differential diagnosis in common inherited retinal degenerations by exploring their profiles of serum metabolites.
Wang WC, Huang CH, Chung HH, Chen PL, Hu FR, Yang CH, Yang CM, Lin CW, Hsu CC, Chen TC
Nat Commun 2024 Apr 26;15(1):3562. doi: 10.1038/s41467-024-47911-3. PMID: 38670966Free PMC Article
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M, Kjellström S, Andréasson S, Öhberg A, Gränse L, Kjellström U
Genes (Basel) 2023 Jul 8;14(7) doi: 10.3390/genes14071413. PMID: 37510321Free PMC Article
The absence of diabetic retinopathy in patients with retinitis pigmentosa: implications for pathophysiology and possible treatment.
Arden GB
Br J Ophthalmol 2001 Mar;85(3):366-70. doi: 10.1136/bjo.85.3.366. PMID: 11222350Free PMC Article

Recent clinical studies

Etiology

Metabolomics facilitates differential diagnosis in common inherited retinal degenerations by exploring their profiles of serum metabolites.
Wang WC, Huang CH, Chung HH, Chen PL, Hu FR, Yang CH, Yang CM, Lin CW, Hsu CC, Chen TC
Nat Commun 2024 Apr 26;15(1):3562. doi: 10.1038/s41467-024-47911-3. PMID: 38670966Free PMC Article
Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey.
Gumus E, Tuncez E, Oz O, Saka Guvenc M
Ann Hum Genet 2021 Jan;85(1):27-36. Epub 2020 Jul 20 doi: 10.1111/ahg.12401. PMID: 32686083
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
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
The absence of diabetic retinopathy in patients with retinitis pigmentosa: implications for pathophysiology and possible treatment.
Arden GB
Br J Ophthalmol 2001 Mar;85(3):366-70. doi: 10.1136/bjo.85.3.366. PMID: 11222350Free PMC Article

Diagnosis

Metabolomics facilitates differential diagnosis in common inherited retinal degenerations by exploring their profiles of serum metabolites.
Wang WC, Huang CH, Chung HH, Chen PL, Hu FR, Yang CH, Yang CM, Lin CW, Hsu CC, Chen TC
Nat Commun 2024 Apr 26;15(1):3562. doi: 10.1038/s41467-024-47911-3. PMID: 38670966Free 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
Ocular myopathies.
Tomé FM, Fardeau M
Pathol Res Pract 1985 Jul;180(1):19-27. doi: 10.1016/S0344-0338(85)80070-4. PMID: 4034429
Retinitis pigmentosa and lymphocytic leukemia.
Einaugler RB, Finkelstein D, Gunkel RD, Brown CH, Collins EA
Arch Ophthalmol 1971 Jun;85(6):699-702. doi: 10.1001/archopht.1971.00990050701009. PMID: 5562790

Therapy

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
Light localization with low-contrast targets in a patient implanted with a suprachoroidal-transretinal stimulation retinal prosthesis.
Endo T, Fujikado T, Hirota M, Kanda H, Morimoto T, Nishida K
Graefes Arch Clin Exp Ophthalmol 2018 Sep;256(9):1723-1729. Epub 2018 Apr 20 doi: 10.1007/s00417-018-3982-0. PMID: 29679170
Efficient mutagenesis of the rhodopsin gene in rod photoreceptor neurons in mice.
Chan F, Hauswirth WW, Wensel TG, Wilson JH
Nucleic Acids Res 2011 Aug;39(14):5955-66. Epub 2011 Apr 7 doi: 10.1093/nar/gkr196. PMID: 21478169Free PMC Article
Single doses of all-trans-N-retinylacetamide slow down the ERG amplitude recovery after bleaching in rats.
Messias A, Zrenner E, Tzekov R, McGee D, Peters T, Wilhelm B, Baryluk A, Kubota R, Gekeler F
Doc Ophthalmol 2010 Apr;120(2):165-74. Epub 2009 Dec 11 doi: 10.1007/s10633-009-9209-2. PMID: 20012154
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

A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M, Kjellström S, Andréasson S, Öhberg A, Gränse L, Kjellström U
Genes (Basel) 2023 Jul 8;14(7) doi: 10.3390/genes14071413. PMID: 37510321Free 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
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
The prevalence of age-related maculopathy in the Rotterdam Study.
Vingerling JR, Dielemans I, Hofman A, Grobbee DE, Hijmering M, Kramer CF, de Jong PT
Ophthalmology 1995 Feb;102(2):205-10. doi: 10.1016/s0161-6420(95)31034-2. PMID: 7862408

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
Altered airway ciliary orientation in patients with X-linked retinitis pigmentosa.
McCray G, Griffin P, Martinello P, de Iongh R, Ruddle J, Robinson P
Thorax 2019 Sep;74(9):914-916. Epub 2019 May 20 doi: 10.1136/thoraxjnl-2018-212584. PMID: 31110053
Ocular myopathies.
Tomé FM, Fardeau M
Pathol Res Pract 1985 Jul;180(1):19-27. doi: 10.1016/S0344-0338(85)80070-4. PMID: 4034429

Recent systematic reviews

Risk and protective factors of late in-the-bag intraocular lens dislocations: systematic review.
Gabriel M, Mester A, Mayer-Xanthaki C
J Cataract Refract Surg 2025 Jan 1;51(1):72-83. doi: 10.1097/j.jcrs.0000000000001564. PMID: 39602350
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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