U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Gene

Retinitis pigmentosa 86(RP86)

MedGen UID:
1684789
•Concept ID:
C5231428
•
Disease or Syndrome
Synonyms: RETINITIS PIGMENTOSA 86; RP86
 
Gene (location): 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).
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
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.
See: 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
Progressive visual loss
MedGen UID:
326867
•Concept ID:
C1839364
•
Finding
A reduction of previously attained ability to see.
See: Feature record | Search on this feature
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.
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
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.
See: Feature record | Search on this feature
Hyperautofluorescent retinal lesion
MedGen UID:
1368849
•Concept ID:
C4476623
•
Finding
Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.
See: Feature record | Search on this feature

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: 39277603Free 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: 32507488Free PMC Article

Recent clinical studies

Etiology

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
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: 32507488Free PMC Article
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: 32573764Free PMC Article
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: 23755871Free 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: 22135276Free PMC Article

Diagnosis

PHARC syndrome: an overview.
Harutyunyan L, Callaerts P, Vermeer S
Orphanet J Rare Dis 2024 Nov 5;19(1):416. doi: 10.1186/s13023-024-03418-0. PMID: 39501272Free 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
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: 32507488Free PMC Article
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: 32573764Free PMC Article
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: 23755871Free PMC Article

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: 32573764Free PMC Article
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
Outcome of cataract surgery in patients with retinitis pigmentosa.
Jackson H, Garway-Heath D, Rosen P, Bird AC, Tuft SJ
Br J Ophthalmol 2001 Aug;85(8):936-8. doi: 10.1136/bjo.85.8.936. PMID: 11466249Free PMC Article

Prognosis

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: 33691693Free 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: 33688152Free PMC Article
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: 32507488Free PMC Article
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: 32573764Free PMC Article
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: 23755871Free PMC Article

Clinical prediction guides

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
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: 33691693Free PMC Article
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: 32573764Free PMC Article
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
Karali M, Testa F, Brunetti-Pierri R, Di Iorio V, Pizzo M, Melillo P, Barillari MR, Torella A, Musacchia F, D'Angelo L, Banfi S, Simonelli F
Int J Mol Sci 2019 Dec 20;21(1) doi: 10.3390/ijms21010086. PMID: 31877679Free 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: 22135276Free PMC Article

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: 32573764Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...