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Retinitis pigmentosa 88(RP88)

MedGen UID:
1720448
•Concept ID:
C5394208
•
Disease or Syndrome
Synonyms: RETINITIS PIGMENTOSA 88; RP88
 
Gene (location): RP1L1 (8p23.1)
 
Monarch Initiative: MONDO:0032940
OMIM®: 618826

Definition

Retinitis pigmentosa-88 (RP88) is characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity. Examination shows typical findings of RP, including attenuated retinal vessels, pale optic discs, and pigment deposits in the peripheral retinal pigment epithelium (Zobor et al., 2018; Hu et al., 2019; Albarry et al., 2019). For a discussion of genetic heterogeneity of RP, see 268000. [from OMIM]

Clinical features

From HPO
Exotropia
MedGen UID:
4613
•Concept ID:
C0015310
•
Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.
See: Feature record | Search on this feature
Macular degeneration
MedGen UID:
7434
•Concept ID:
C0024437
•
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
See: Feature record | Search on this feature
Cystoid macular edema
MedGen UID:
7435
•Concept ID:
C0024440
•
Disease or Syndrome
Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al., 2015).
See: Feature record | Search on this feature
Night blindness
MedGen UID:
10349
•Concept ID:
C0028077
•
Disease or Syndrome
Inability to see well at night or in poor light.
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
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
Bone spicule pigmentation of the retina
MedGen UID:
323029
•Concept ID:
C1836926
•
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
See: Feature record | Search on this feature
Attenuation of retinal blood vessels
MedGen UID:
480605
•Concept ID:
C3278975
•
Finding
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
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.
Huang XF, Huang F, Wu KC, Wu J, Chen J, Pang CP, Lu F, Qu J, Jin ZB
Genet Med 2015 Apr;17(4):271-8. Epub 2014 Nov 6 doi: 10.1038/gim.2014.138. PMID: 25356976
Retinitis pigmentosa: visual function and multidisciplinary management.
Herse P
Clin Exp Optom 2005 Sep;88(5):335-50. doi: 10.1111/j.1444-0938.2005.tb06717.x. PMID: 16255692

Recent clinical studies

Etiology

Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
Kim DG, Joo K, Han J, Choi M, Kim SW, Park KH, Park SJ, Lee CS, Byeon SH, Woo SJ
Genes (Basel) 2023 May 8;14(5) doi: 10.3390/genes14051057. PMID: 37239417Free PMC Article
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y
Br J Ophthalmol 2020 Jul;104(7):932-937. Epub 2019 Oct 19 doi: 10.1136/bjophthalmol-2019-314281. PMID: 31630094
POSTERIOR STAPHYLOMAS IN EYES WITH RETINITIS PIGMENTOSA WITHOUT HIGH MYOPIA.
Xu X, Fang Y, Yokoi T, Shinohara K, Hirakata A, Iwata T, Tsunoda K, Jonas JB, Ohno-Matsui K
Retina 2019 Jul;39(7):1299-1304. doi: 10.1097/IAE.0000000000002180. PMID: 29708934
CLINICAL PRESENTATIONS AND OUTCOMES OF RHEGMATOGENOUS RETINAL DETACHMENT IN RETINITIS PIGMENTOSA.
Dave VP, Jalali S, Nayaka A, Pappuru RR, Pathengay A, Das T
Retina 2016 Jul;36(7):1345-8. doi: 10.1097/IAE.0000000000000910. PMID: 26655616
Rhodopsin-mediated retinitis pigmentosa.
Malanson KM, Lem J
Prog Mol Biol Transl Sci 2009;88:1-31. Epub 2009 Oct 7 doi: 10.1016/S1877-1173(09)88001-0. PMID: 20374723

Diagnosis

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
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Kim YJ, Kim YN, Yoon YH, Seo EJ, Seo GH, Keum C, Lee BH, Lee JY
Genes (Basel) 2021 Apr 30;12(5) doi: 10.3390/genes12050675. PMID: 33946315Free PMC Article
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM
Genet Med 2020 Jun;22(6):1079-1087. Epub 2020 Feb 10 doi: 10.1038/s41436-020-0759-8. PMID: 32037395Free PMC Article
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.
Huang XF, Huang F, Wu KC, Wu J, Chen J, Pang CP, Lu F, Qu J, Jin ZB
Genet Med 2015 Apr;17(4):271-8. Epub 2014 Nov 6 doi: 10.1038/gim.2014.138. PMID: 25356976
Neonatal adrenoleukodystrophy.
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O
J Neurol Neurosurg Psychiatry 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. PMID: 2420940Free PMC Article

Therapy

Intravitreal autologous mesenchymal stem cell transplantation: a non-randomized phase I clinical trial in patients with retinitis pigmentosa.
Tuekprakhon A, Sangkitporn S, Trinavarat A, Pawestri AR, Vamvanij V, Ruangchainikom M, Luksanapruksa P, Pongpaksupasin P, Khorchai A, Dambua A, Boonchu P, Yodtup C, Uiprasertkul M, Sangkitporn S, Atchaneeyasakul LO
Stem Cell Res Ther 2021 Jan 9;12(1):52. doi: 10.1186/s13287-020-02122-7. PMID: 33422139Free PMC Article
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
Kuehlewein L, Zobor D, Andreasson SO, Ayuso C, Banfi S, Bocquet B, Bernd AS, Biskup S, Boon CJF, Downes SM, Fischer MD, Holz FG, Kellner U, Leroy BP, Meunier I, Nasser F, Rosenberg T, Rudolph G, Stingl K, Thiadens AAHJ, Wilhelm B, Wissinger B, Zrenner E, Kohl S, Weisschuh N; RD-CURE Consortium
JAMA Ophthalmol 2020 Dec 1;138(12):1241-1250. doi: 10.1001/jamaophthalmol.2020.4206. PMID: 33057649Free PMC Article
Longevity of visual improvements following transcorneal electrical stimulation and efficacy of retreatment in three individuals with retinitis pigmentosa.
Bittner AK, Seger K
Graefes Arch Clin Exp Ophthalmol 2018 Feb;256(2):299-306. Epub 2017 Dec 8 doi: 10.1007/s00417-017-3858-8. PMID: 29222719Free PMC Article
Validation of a new static perimetric thresholding strategy (GATE).
Luithardt AF, Meisner C, Monhart M, Krapp E, Mast A, Schiefer U
Br J Ophthalmol 2015 Jan;99(1):11-5. Epub 2014 Jul 22 doi: 10.1136/bjophthalmol-2013-304535. PMID: 25053761
Assessing the correlation between mutant rhodopsin stability and the severity of retinitis pigmentosa.
McKeone R, Wikstrom M, Kiel C, Rakoczy PE
Mol Vis 2014;20:183-99. Epub 2014 Feb 7 PMID: 24520188Free PMC Article

Prognosis

RETINITIS PIGMENTOSA SINE PIGMENTO: Clinical Spectrum and Pigment Development.
Lee EK, Lee SY, Ma DJ, Yoon CK, Park UC, Yu HG
Retina 2022 Apr 1;42(4):807-815. doi: 10.1097/IAE.0000000000003367. PMID: 34907125
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM
Genet Med 2020 Jun;22(6):1079-1087. Epub 2020 Feb 10 doi: 10.1038/s41436-020-0759-8. PMID: 32037395Free PMC Article
Expert consensus document: Mitochondrial function as a therapeutic target in heart failure.
Brown DA, Perry JB, Allen ME, Sabbah HN, Stauffer BL, Shaikh SR, Cleland JG, Colucci WS, Butler J, Voors AA, Anker SD, Pitt B, Pieske B, Filippatos G, Greene SJ, Gheorghiade M
Nat Rev Cardiol 2017 Apr;14(4):238-250. Epub 2016 Dec 22 doi: 10.1038/nrcardio.2016.203. PMID: 28004807Free PMC Article
Retinitis pigmentosa: visual function and multidisciplinary management.
Herse P
Clin Exp Optom 2005 Sep;88(5):335-50. doi: 10.1111/j.1444-0938.2005.tb06717.x. PMID: 16255692
Neonatal adrenoleukodystrophy.
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O
J Neurol Neurosurg Psychiatry 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. PMID: 2420940Free PMC Article

Clinical prediction guides

Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
Kim DG, Joo K, Han J, Choi M, Kim SW, Park KH, Park SJ, Lee CS, Byeon SH, Woo SJ
Genes (Basel) 2023 May 8;14(5) doi: 10.3390/genes14051057. PMID: 37239417Free 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
Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients.
Kim YN, Song JS, Oh SH, Kim YJ, Yoon YH, Seo EJ, Seol CA, Lee SM, Choi JM, Seo GH, Keum C, Lee BH, Lee JY
Sci Rep 2020 Nov 11;10(1):19540. doi: 10.1038/s41598-020-75902-z. PMID: 33177553Free PMC Article
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM
Genet Med 2020 Jun;22(6):1079-1087. Epub 2020 Feb 10 doi: 10.1038/s41436-020-0759-8. PMID: 32037395Free PMC Article
Hereditary and clinical features of retinitis pigmentosa in Koreans.
Lee SH, Yu HG, Seo JM, Moon SW, Moon JW, Kim SJ, Chung H
J Korean Med Sci 2010 Jun;25(6):918-23. Epub 2010 May 24 doi: 10.3346/jkms.2010.25.6.918. PMID: 20514315Free PMC Article

Recent systematic reviews

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A, Afsar S, Rehman AU
BMC Ophthalmol 2024 Feb 5;24(1):55. doi: 10.1186/s12886-024-03319-7. PMID: 38317096Free PMC Article

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