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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). [from OMIM]

Clinical features

From HPO
Reduced sperm motility
MedGen UID:
98339
•Concept ID:
C0403823
•
Disease or Syndrome
An abnormal reduction in the mobility of ejaculated sperm.
See: Feature record | Search on this feature
Situs inversus totalis
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 disk (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

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.
Dulla K, Slijkerman R, van Diepen HC, Albert S, Dona M, Beumer W, Turunen JJ, Chan HL, Schulkens IA, Vorthoren L, den Besten C, Buil L, Schmidt I, Miao J, Venselaar H, Zang J, Neuhauss SCF, Peters T, Broekman S, Pennings R, Kremer H, Platenburg G, Adamson P, de Vrieze E, van Wijk E
Mol Ther 2021 Aug 4;29(8):2441-2455. Epub 2021 Apr 23 doi: 10.1016/j.ymthe.2021.04.024. PMID: 33895329Free 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
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

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
Restoring vision using optogenetics without being blind to the risks.
Harris AR, Gilbert F
Graefes Arch Clin Exp Ophthalmol 2022 Jan;260(1):41-45. Epub 2021 Nov 1 doi: 10.1007/s00417-021-05477-6. PMID: 34724112Free PMC Article
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

Retinitis Pigmentosa: Progress in Molecular Pathology and Biotherapeutical Strategies.
Liu W, Liu S, Li P, Yao K
Int J Mol Sci 2022 Apr 28;23(9) doi: 10.3390/ijms23094883. PMID: 35563274Free PMC Article
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
Retinitis pigmentosa: recent advances and future directions in diagnosis and management.
Fahim A
Curr Opin Pediatr 2018 Dec;30(6):725-733. doi: 10.1097/MOP.0000000000000690. PMID: 30234647
Genes and mutations causing retinitis pigmentosa.
Daiger SP, Sullivan LS, Bowne SJ
Clin Genet 2013 Aug;84(2):132-41. Epub 2013 Jun 19 doi: 10.1111/cge.12203. PMID: 23701314Free 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

Therapy

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
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.
Dulla K, Slijkerman R, van Diepen HC, Albert S, Dona M, Beumer W, Turunen JJ, Chan HL, Schulkens IA, Vorthoren L, den Besten C, Buil L, Schmidt I, Miao J, Venselaar H, Zang J, Neuhauss SCF, Peters T, Broekman S, Pennings R, Kremer H, Platenburg G, Adamson P, de Vrieze E, van Wijk E
Mol Ther 2021 Aug 4;29(8):2441-2455. Epub 2021 Apr 23 doi: 10.1016/j.ymthe.2021.04.024. PMID: 33895329Free PMC Article
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
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

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
Vascular dysfunction in retinitis pigmentosa.
Lang M, Harris A, Ciulla TA, Siesky B, Patel P, Belamkar A, Mathew S, Verticchio Vercellin AC
Acta Ophthalmol 2019 Nov;97(7):660-664. Epub 2019 May 17 doi: 10.1111/aos.14138. PMID: 31099494
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

Clinical prediction guides

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
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.
Dulla K, Slijkerman R, van Diepen HC, Albert S, Dona M, Beumer W, Turunen JJ, Chan HL, Schulkens IA, Vorthoren L, den Besten C, Buil L, Schmidt I, Miao J, Venselaar H, Zang J, Neuhauss SCF, Peters T, Broekman S, Pennings R, Kremer H, Platenburg G, Adamson P, de Vrieze E, van Wijk E
Mol Ther 2021 Aug 4;29(8):2441-2455. Epub 2021 Apr 23 doi: 10.1016/j.ymthe.2021.04.024. PMID: 33895329Free PMC Article
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S
Int J Mol Sci 2021 Feb 27;22(5) doi: 10.3390/ijms22052374. PMID: 33673512Free PMC Article
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
Dominant ARL3-related retinitis pigmentosa.
Holtan JP, Teigen K, Aukrust I, Bragadóttir R, Houge G
Ophthalmic Genet 2019 Apr;40(2):124-128. Epub 2019 Apr 1 doi: 10.1080/13816810.2019.1586965. PMID: 30932721

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
Acute appendicitis and situs viscerum inversus: radiological and surgical approach-a systematic review.
Di Buono G, Buscemi S, Galia M, Maienza E, Amato G, Bonventre G, Vella R, Saverino M, Grassedonio E, Romano G, Agrusa A
Eur J Med Res 2023 Feb 20;28(1):85. doi: 10.1186/s40001-023-01059-w. PMID: 36805741Free PMC Article
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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