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Retinitis pigmentosa 86(RP86)

MedGen UID:: 1684789
•Concept ID:: C5231428
•: Disease or Syndrome

Synonyms:	RETINITIS PIGMENTOSA 86; RP86

Gene (location): Gene(s) directly associated with this condition or phenotype.	KIAA1549 (7q34)

Monarch Initiative:	MONDO:0032834
OMIM®:	618613

Definition

Retinitis pigmentosa-86 (RP86) is characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity, with typical findings of RP on fundus examination, including attenuated retinal vessels, waxy pallor of the optic disc, and bone spicule-like pigmentation (de Bruijn et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

Clinical features

From HPO

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.

See: Feature record | Search on this feature

Cortical cataract

MedGen UID:: 82868
•Concept ID:: C0271160
•: Acquired Abnormality

A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.

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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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Progressive visual loss

MedGen UID:: 326867
•Concept ID:: C1839364
•: Finding

A reduction of previously attained ability to see.

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Retinal pigment epithelial atrophy

MedGen UID:: 333564
•Concept ID:: C1840457
•: Finding

Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.

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Attenuation of retinal blood vessels

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

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Nummular pigmentation of the fundus

MedGen UID:: 892932
•Concept ID:: C4072990
•: Finding

Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium.

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Hyperautofluorescent retinal lesion

MedGen UID:: 1368849
•Concept ID:: C4476623
•: Finding

Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.

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Abnormality of the eye

Professional guidelines

PubMed

Current management of inherited retinal degenerations in Portugal (IRD-PT survey).

Marques JP, Ferreira N, Moreno N, Marta A, Vaz-Pereira S, Estrela-Silva S, Costa J, Cardoso AR, Neves P, Duarte L, Meira D, Pires J, Menezes C, Rodrigues F, Arede P, Coutinho A, Cabral D, Coutinho I, Ribeiro M, Macedo M, Brito S, Isidro F, Rodrigues FG, Sousa JPC, Marques M, Martins R, Silva E
Sci Rep 2024 Sep 14;14(1):21473. doi: 10.1038/s41598-024-72589-4. PMID: 39277603 Free PMC Article

Ultra-widefield fundus autofluorescence imaging in patients with autosomal recessive retinitis pigmentosa reveals a genotype-phenotype correlation.

Patal R, Banin E, Batash T, Sharon D, Levy J
Graefes Arch Clin Exp Ophthalmol 2022 Nov;260(11):3471-3478. Epub 2022 May 2 doi: 10.1007/s00417-022-05683-w. PMID: 35501492

Coats-like Exudative Vitreoretinopathy in Retinitis Pigmentosa: Ocular Manifestations and Treatment Outcomes.

Moinuddin O, Sathrasala S, Jayasundera KT, Branham KH, Chang EY, Qian CX, Recchia FM, Fahim AT, Besirli CG
Ophthalmol Retina 2021 Jan;5(1):86-96. Epub 2020 Apr 9 doi: 10.1016/j.oret.2020.03.026. PMID: 32507488 Free PMC Article

See all (4)

Recent clinical studies

Etiology

Genetic profile of syndromic retinitis pigmentosa in Portugal.

Cortinhal T, Santos C, Vaz-Pereira S, Marta A, Duarte L, Miranda V, Costa J, Sousa AB, Peter VG, Kaminska K, Rivolta C, Carvalho AL, Saraiva J, Soares CA, Silva R, Murta J, Santos LC, Marques JP
Graefes Arch Clin Exp Ophthalmol 2024 Jun;262(6):1883-1897. Epub 2024 Jan 8 doi: 10.1007/s00417-023-06360-2. PMID: 38189974 Free PMC Article

Kidney failure in Bardet-Biedl syndrome.

Meyer JR, Krentz AD, Berg RL, Richardson JG, Pomeroy J, Hebbring SJ, Haws RM
Clin Genet 2022 Apr;101(4):429-441. doi: 10.1111/cge.14119. PMID: 35112343 Free PMC Article

Early and late stage gene therapy interventions for inherited retinal degenerations.

Botto C, Rucli M, Tekinsoy MD, Pulman J, Sahel JA, Dalkara D
Prog Retin Eye Res 2022 Jan;86:100975. Epub 2021 May 29 doi: 10.1016/j.preteyeres.2021.100975. PMID: 34058340

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C
Ophthalmology 2013 Nov;120(11):2332-7. Epub 2013 Jun 4 doi: 10.1016/j.ophtha.2013.04.002. PMID: 23755871 Free PMC Article

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M
J Med Genet 2012 Jan;49(1):27-36. Epub 2011 Dec 1 doi: 10.1136/jmedgenet-2011-100468. PMID: 22135276 Free PMC Article

See all (66)

Diagnosis

Genetic profile of syndromic retinitis pigmentosa in Portugal.

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

MERTK retinopathy: biomarkers assessing vision loss.

Sakti DH, Cornish EE, Mustafic N, Zaheer A, Retsas S, Rajagopalan S, Chung CW, Ewans L, McCluskey P, Nash BM, Jamieson RV, Grigg JR
Ophthalmic Genet 2021 Dec;42(6):706-716. Epub 2021 Jul 22 doi: 10.1080/13816810.2021.1955278. PMID: 34289798

Coats-like Exudative Vitreoretinopathy in Retinitis Pigmentosa: Ocular Manifestations and Treatment Outcomes.

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

See all (59)

Therapy

Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.

Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764 Free PMC Article

Changes in microchip position after implantation of a subretinal vision prosthesis in humans.

Kuehlewein L, Troelenberg N, Stingl K, Schleehauf S, Kusnyerik A, Jackson TL, MacLaren RE, Chee C, Roider J, Wilhelm B, Gekeler F, Bartz-Schmidt KU, Zrenner E, Stingl K
Acta Ophthalmol 2019 Sep;97(6):e871-e876. Epub 2019 Feb 28 doi: 10.1111/aos.14077. PMID: 30816625

Retinal vessel oxygen saturation and vessel diameter in retinitis pigmentosa at various ages.

Zong Y, Lin L, Yi C, Huang X, Fu Y, Dong Y, Qian X, Li Y, Gao Q
Graefes Arch Clin Exp Ophthalmol 2016 Feb;254(2):243-52. Epub 2015 May 8 doi: 10.1007/s00417-015-3039-6. PMID: 25952041

Subretinal Visual Implant Alpha IMS--Clinical trial interim report.

Stingl K, Bartz-Schmidt KU, Besch D, Chee CK, Cottriall CL, Gekeler F, Groppe M, Jackson TL, MacLaren RE, Koitschev A, Kusnyerik A, Neffendorf J, Nemeth J, Naeem MA, Peters T, Ramsden JD, Sachs H, Simpson A, Singh MS, Wilhelm B, Wong D, Zrenner E
Vision Res 2015 Jun;111(Pt B):149-60. Epub 2015 Mar 23 doi: 10.1016/j.visres.2015.03.001. PMID: 25812924

Retinal blood flow velocity measured by retinal function imaging in retinitis pigmentosa.

Beutelspacher SC, Serbecic N, Barash H, Burgansky-Eliash Z, Grinvald A, Krastel H, Jonas JB
Graefes Arch Clin Exp Ophthalmol 2011 Dec;249(12):1855-8. Epub 2011 Aug 27 doi: 10.1007/s00417-011-1757-y. PMID: 21874346

See all (14)

Prognosis

Genetic profile of syndromic retinitis pigmentosa in Portugal.

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693 Free PMC Article

Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.

Verdina T, Greenstein VC, Tsang SH, Murro V, Mucciolo DP, Passerini I, Mastropasqua R, Cavallini GM, Virgili G, Giansanti F, Sodi A
Mol Vis 2021;27:78-94. Epub 2021 Feb 5 PMID: 33688152 Free PMC Article

Coats-like Exudative Vitreoretinopathy in Retinitis Pigmentosa: Ocular Manifestations and Treatment Outcomes.

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

See all (27)

Clinical prediction guides

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

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693 Free PMC Article

Coats-like Exudative Vitreoretinopathy in Retinitis Pigmentosa: Ocular Manifestations and Treatment Outcomes.

Defining renal phenotype in Alström syndrome.

Baig S, Paisey R, Dawson C, Barrett T, Maffei P, Hodson J, Rambhatla SB, Chauhan P, Bolton S, Dassie F, Francomano C, Marshall RP, Belal M, Skordilis K, Hayer M, Price AM, Cramb R, Edwards N, Steeds RP, Geberhiwot T
Nephrol Dial Transplant 2020 Jun 1;35(6):994-1001. doi: 10.1093/ndt/gfy293. PMID: 30307515

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

See all (43)

Recent systematic reviews

Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.

Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764 Free PMC Article

See all (1)

MedGen

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Links from Gene

Retinitis pigmentosa 86(RP86)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

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