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Retinitis pigmentosa 88(RP88)

MedGen UID:: 1720448
•Concept ID:: C5394208
•: Disease or Syndrome

Synonyms:	RETINITIS PIGMENTOSA 88; RP88

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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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).

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Night blindness

MedGen UID:: 10349
•Concept ID:: C0028077
•: Disease or Syndrome

Inability to see well at night or in poor light.

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Reduced visual acuity

MedGen UID:: 65889
•Concept ID:: C0234632
•: Finding

Diminished clarity of vision.

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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.

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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).

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Attenuation of retinal blood vessels

MedGen UID:: 480605
•Concept ID:: C3278975
•: Finding

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Abnormality of the eye

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

See all (7)

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: 37239417 Free 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

See all (53)

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: 35503220 Free PMC Article

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

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: 33946315 Free 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: 32037395 Free 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

See all (73)

Therapy

Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques.

Fujinami-Yokokawa Y, Ninomiya H, Liu X, Yang L, Pontikos N, Yoshitake K, Iwata T, Sato Y, Hashimoto T, Tsunoda K, Miyata H, Fujinami K; Japan Eye Genetics Study (JEGC) Group
Br J Ophthalmol 2021 Sep;105(9):1272-1279. Epub 2021 Apr 20 doi: 10.1136/bjophthalmol-2020-318544. PMID: 33879469 Free PMC Article

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: 33422139 Free 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: 33057649 Free 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: 29222719 Free PMC Article

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: 24520188 Free PMC Article

See all (25)

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.

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: 28004807 Free 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: 2420940 Free PMC Article

See all (38)

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: 37239417 Free PMC Article

Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.

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: 33177553 Free PMC Article

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

See all (51)