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Retinitis pigmentosa with or without situs inversus(RP82)

MedGen UID:
1658130
•Concept ID:
C4747737
•
Disease or Syndrome
Synonyms: Retinitis pigmentosa 82; Retinitis pigmentosa 82 with or without situs inversus
 
Gene (location): ARL2BP (16q13)
 
Monarch Initiative: MONDO:0014186
OMIM®: 615434

Definition

Retinitis pigmentosa-82 with or without situs inversus (RP82) is an autosomal recessive form of retinal degeneration characterized by initial loss of rod photoreceptors, resulting in impaired night vision followed by progressive visual field constriction as both rod and cone photoreceptors die. Some affected individuals have situs inversus (Davidson et al., 2013; Audo et al., 2017). Male patients with infertility due to reduced or absent sperm motility have been reported; female fertility appears to be unaffected (Moye et al., 2019). [from OMIM]

Clinical features

From HPO
Reduced sperm motility
MedGen UID:
907698
•Concept ID:
C4082176
•
Finding
An abnormal reduction in the mobility of ejaculated sperm.
See: Feature record | Search on this feature
Situs inversus
MedGen UID:
1642262
•Concept ID:
C4551493
•
Congenital Abnormality
A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.
See: Feature record | Search on this feature
Bronchiectasis
MedGen UID:
14234
•Concept ID:
C0006267
•
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
See: Feature record | Search on this feature
Productive cough
MedGen UID:
66781
•Concept ID:
C0239134
•
Finding
A cough that produces phlegm or mucus.
See: Feature record | Search on this feature
Decreased nasal nitric oxide
MedGen UID:
767344
•Concept ID:
C3554430
•
Finding
Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.
See: Feature record | Search on this feature
Recurrent infections
MedGen UID:
65998
•Concept ID:
C0239998
•
Finding
Increased susceptibility to infections.
See: Feature record | Search on this feature
Nasal congestion
MedGen UID:
6523
•Concept ID:
C0027424
•
Sign or Symptom
Reduced ability to pass air through the nasal cavity often leading to mouth breathing.
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
Macular atrophy
MedGen UID:
140841
•Concept ID:
C0423421
•
Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
See: Feature record | Search on this feature
Optic disc pallor
MedGen UID:
108218
•Concept ID:
C0554970
•
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
See: Feature record | Search on this feature
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.
See: 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
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Professional guidelines

PubMed

Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.
Nguyen XT, Moekotte L, Plomp AS, Bergen AA, van Genderen MM, Boon CJF
Int J Mol Sci 2023 Apr 19;24(8) doi: 10.3390/ijms24087481. PMID: 37108642Free PMC Article
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
Karaa A, Goldstein A
Pediatr Diabetes 2015 Feb;16(1):1-9. Epub 2014 Oct 20 doi: 10.1111/pedi.12223. PMID: 25330715

Recent clinical studies

Etiology

Linear streaks associated with retinitis pigmentosa.
Battaglia Parodi M, Arrigo A, Aragona E, Pina A, Bandello F
Eur J Ophthalmol 2024 Nov;34(6):1975-1978. Epub 2024 Feb 8 doi: 10.1177/11206721241232450. PMID: 38332612Free PMC Article
Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK
Ophthalmic Genet 2023 Aug;44(4):352-360. Epub 2023 Apr 4 doi: 10.1080/13816810.2023.2196338. PMID: 37013444
Non-syndromic retinitis pigmentosa.
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ
Prog Retin Eye Res 2018 Sep;66:157-186. Epub 2018 Mar 27 doi: 10.1016/j.preteyeres.2018.03.005. PMID: 29597005
Cilia-related diseases.
Afzelius BA
J Pathol 2004 Nov;204(4):470-7. doi: 10.1002/path.1652. PMID: 15495266Free PMC Article
Retinitis pigmentosa.
Pagon RA
Surv Ophthalmol 1988 Nov-Dec;33(3):137-77. doi: 10.1016/0039-6257(88)90085-9. PMID: 3068820

Diagnosis

Primary Ciliary Dyskinesia.
Shoemark A, Harman K
Semin Respir Crit Care Med 2021 Aug;42(4):537-548. Epub 2021 Jul 14 doi: 10.1055/s-0041-1730919. PMID: 34261178
Decoding retinitis pigmentosa.
Natarajan S
Indian J Ophthalmol 2013 Mar;61(3):91-4. doi: 10.4103/0301-4738.109372. PMID: 23514641Free PMC Article
Retinitis pigmentosa.
Pagon RA
Surv Ophthalmol 1988 Nov-Dec;33(3):137-77. doi: 10.1016/0039-6257(88)90085-9. PMID: 3068820
Coats'-type retinitis pigmentosa.
Khan JA, Ide CH, Strickland MP
Surv Ophthalmol 1988 Mar-Apr;32(5):317-32. doi: 10.1016/0039-6257(88)90094-x. PMID: 2457260
Retinitis pigmentosa.
Merin S, Auerbach E
Surv Ophthalmol 1976 Mar-Apr;20(5):303-46. doi: 10.1016/s0039-6257(96)90001-6. PMID: 817406

Therapy

Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR.
Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, Nanda A, Davies A, Wood LJ, Salvetti AP, Fischer MD, Aylward JW, Barnard AR, Jolly JK, Luo E, Lujan BJ, Ong T, Girach A, Black GCM, Gregori NZ, Davis JL, Rosa PR, Lotery AJ, Lam BL, Stanga PE, MacLaren RE
Nat Med 2020 Mar;26(3):354-359. Epub 2020 Feb 24 doi: 10.1038/s41591-020-0763-1. PMID: 32094925Free PMC Article
The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.
Athanasiou D, Aguila M, Bellingham J, Li W, McCulley C, Reeves PJ, Cheetham ME
Prog Retin Eye Res 2018 Jan;62:1-23. Epub 2017 Oct 16 doi: 10.1016/j.preteyeres.2017.10.002. PMID: 29042326Free PMC Article
Primary Ciliary Dyskinesia.
Knowles MR, Zariwala M, Leigh M
Clin Chest Med 2016 Sep;37(3):449-61. Epub 2016 Jun 30 doi: 10.1016/j.ccm.2016.04.008. PMID: 27514592Free PMC Article
Retinitis pigmentosa.
Hartong DT, Berson EL, Dryja TP
Lancet 2006 Nov 18;368(9549):1795-809. doi: 10.1016/S0140-6736(06)69740-7. PMID: 17113430
Cilia-related diseases.
Afzelius BA
J Pathol 2004 Nov;204(4):470-7. doi: 10.1002/path.1652. PMID: 15495266Free PMC Article

Prognosis

Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK
Ophthalmic Genet 2023 Aug;44(4):352-360. Epub 2023 Apr 4 doi: 10.1080/13816810.2023.2196338. PMID: 37013444
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free 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
Retinitis pigmentosa.
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article
Coats'-type retinitis pigmentosa.
Khan JA, Ide CH, Strickland MP
Surv Ophthalmol 1988 Mar-Apr;32(5):317-32. doi: 10.1016/0039-6257(88)90094-x. PMID: 2457260

Clinical prediction guides

Human Genetics of Defects of Situs.
Perrot A, Rickert-Sperling S
Adv Exp Med Biol 2024;1441:705-717. doi: 10.1007/978-3-031-44087-8_42. PMID: 38884744
Linear streaks associated with retinitis pigmentosa.
Battaglia Parodi M, Arrigo A, Aragona E, Pina A, Bandello F
Eur J Ophthalmol 2024 Nov;34(6):1975-1978. Epub 2024 Feb 8 doi: 10.1177/11206721241232450. PMID: 38332612Free PMC Article
Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia.
Kaspy KR, Dell SD, Davis SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla C, Olivier KN, Barber AT, Wee W, Lin FC, Li L, Rampakakis E, Zariwala MA, Knowles MR, Leigh MW, Shapiro AJ
Chest 2024 May;165(5):1070-1081. Epub 2023 Dec 9 doi: 10.1016/j.chest.2023.12.005. PMID: 38072392Free PMC Article
Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK
Ophthalmic Genet 2023 Aug;44(4):352-360. Epub 2023 Apr 4 doi: 10.1080/13816810.2023.2196338. PMID: 37013444
Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR.
Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, Nanda A, Davies A, Wood LJ, Salvetti AP, Fischer MD, Aylward JW, Barnard AR, Jolly JK, Luo E, Lujan BJ, Ong T, Girach A, Black GCM, Gregori NZ, Davis JL, Rosa PR, Lotery AJ, Lam BL, Stanga PE, MacLaren RE
Nat Med 2020 Mar;26(3):354-359. Epub 2020 Feb 24 doi: 10.1038/s41591-020-0763-1. PMID: 32094925Free PMC Article

Recent systematic reviews

Bariatric and Metabolic Surgery in Patients with Situs Inversus: a Systematic Review.
Sakran N, Stier C, Parmar C, Pouwels S
Obes Surg 2023 Nov;33(11):3628-3635. Epub 2023 Oct 6 doi: 10.1007/s11695-023-06847-1. PMID: 37801236
Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.
Finsterer J
J Clin Neuromuscul Dis 2023 Mar 1;24(3):140-146. doi: 10.1097/CND.0000000000000422. PMID: 36809201
A Global Assessment of Eye Health and Quality of Life: A Systematic Review of Systematic Reviews.
Assi L, Chamseddine F, Ibrahim P, Sabbagh H, Rosman L, Congdon N, Evans J, Ramke J, Kuper H, Burton MJ, Ehrlich JR, Swenor BK
JAMA Ophthalmol 2021 May 1;139(5):526-541. doi: 10.1001/jamaophthalmol.2021.0146. PMID: 33576772Free PMC Article
Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.
Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, Chilvers MA, Ferkol TW, Zariwala MA, Sagel SD, Josephson M, Morgan L, Yilmaz O, Olivier KN, Milla C, Pittman JE, Daniels MLA, Jones MH, Janahi IA, Ware SM, Daniel SJ, Cooper ML, Nogee LM, Anton B, Eastvold T, Ehrne L, Guadagno E, Knowles MR, Leigh MW, Lavergne V; American Thoracic Society Assembly on Pediatrics
Am J Respir Crit Care Med 2018 Jun 15;197(12):e24-e39. doi: 10.1164/rccm.201805-0819ST. PMID: 29905515Free PMC Article
Retinitis Pigmentosa: Progress and Perspective.
Zhang Q
Asia Pac J Ophthalmol (Phila) 2016 Jul-Aug;5(4):265-71. doi: 10.1097/APO.0000000000000227. PMID: 27488069

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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