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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
Retinitis Pigmentosa: Review of Current Treatment.
Wang AL, Knight DK, Vu TT, Mehta MC
Int Ophthalmol Clin 2019 Winter;59(1):263-280. doi: 10.1097/IIO.0000000000000256. PMID: 30585930
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

Mechanism of Cone Degeneration in Retinitis Pigmentosa.
Song DJ, Bao XL, Fan B, Li GY
Cell Mol Neurobiol 2023 Apr;43(3):1037-1048. Epub 2022 Jul 6 doi: 10.1007/s10571-022-01243-2. PMID: 35792991
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
Gene-based therapies for dominantly inherited retinopathies.
Farrar GJ, Millington-Ward S, Chadderton N, Humphries P, Kenna PF
Gene Ther 2012 Feb;19(2):137-44. Epub 2011 Nov 17 doi: 10.1038/gt.2011.172. PMID: 22089493
Pre-mRNA splicing and retinitis pigmentosa.
Mordes D, Luo X, Kar A, Kuo D, Xu L, Fushimi K, Yu G, Sternberg P Jr, Wu JY
Mol Vis 2006 Oct 26;12:1259-71. PMID: 17110909Free 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

Optic Disc Dysplasia and Situs Inversus.
Bhatti MT
JAMA Ophthalmol 2023 Sep 1;141(9):e231068. Epub 2023 Sep 21 doi: 10.1001/jamaophthalmol.2023.1068. PMID: 37733047
See-saw nystagmus associated with retinitis pigmentosa.
Chiew YR
QJM 2023 Jul 28;116(7):572-573. doi: 10.1093/qjmed/hcad052. PMID: 37010511
Sector retinitis pigmentosa.
Palma-Carvajal F, Salazar-Villegas Á, Alé-Chilet A, Bernal-Morales C, Dotti-Boada M, Figueroa-Vercellino JP, Alforja S
J Fr Ophtalmol 2020 Feb;43(2):186-188. Epub 2020 Jan 13 doi: 10.1016/j.jfo.2019.07.018. PMID: 31948687
ECG Diagnosis: Dextrocardia.
Mozayan C, Levis JT
Perm J 2019;23 Epub 2019 Aug 15 doi: 10.7812/TPP/18.244. PMID: 31496498Free PMC Article
Retinitis pigmentosa.
Carr RE, Noble KG
Ophthalmology 1981 Feb;88(2):169-72. doi: 10.1016/s0161-6420(81)35057-x. PMID: 7231903

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
Retinitis Pigmentosa: Review of Current Treatment.
Wang AL, Knight DK, Vu TT, Mehta MC
Int Ophthalmol Clin 2019 Winter;59(1):263-280. doi: 10.1097/IIO.0000000000000256. PMID: 30585930
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: Progress and Perspective.
Zhang Q
Asia Pac J Ophthalmol (Phila) 2016 Jul-Aug;5(4):265-71. doi: 10.1097/APO.0000000000000227. PMID: 27488069
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

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
Retinal Rings.
Lipscomb PM, Reddy AK
JAMA Ophthalmol 2016 Apr;134(4):459-60. doi: 10.1001/jamaophthalmol.2015.3646. PMID: 26913929
Revesz syndrome.
Riyaz A, Riyaz N, Jayakrishnan MP, Mohamed Shiras PT, Ajith Kumar VT, Ajith BS
Indian J Pediatr 2007 Sep;74(9):862-3. doi: 10.1007/s12098-007-0155-2. PMID: 17901676
Retinitis pigmentosa.
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free 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

Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F.
Riaz S, Sethna S, Duncan T, Naeem MA, Redmond TM, Riazuddin S, Riazuddin S, Carvalho LS, Ahmed ZM
Mol Ther 2023 Dec 6;31(12):3490-3501. Epub 2023 Oct 20 doi: 10.1016/j.ymthe.2023.10.017. PMID: 37864333Free 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
Predictive and Precision Medicine with Genomic Data.
Baudhuin LM, Biesecker LG, Burke W, Green ED, Green RC
Clin Chem 2020 Jan 1;66(1):33-41. doi: 10.1373/clinchem.2019.304345. PMID: 31843866
Vitreous cysts in patients with retinitis pigmentosa.
Yoshida N, Ikeda Y, Murakami Y, Nakatake S, Tachibana T, Notomi S, Hisatomi T, Ishibashi T
Jpn J Ophthalmol 2015 Nov;59(6):373-7. Epub 2015 Aug 29 doi: 10.1007/s10384-015-0405-1. PMID: 26314744

Recent systematic reviews

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
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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      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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