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Retinitis pigmentosa 89(RP89)

MedGen UID:
1710499
Concept ID:
C5394552
Disease or Syndrome
Synonyms: RETINITIS PIGMENTOSA 89; RP89
 
Gene (location): KIF3B (20q11.21)
 
Monarch Initiative: MONDO:0030071
OMIM®: 618955

Definition

Retinitis pigmentosa-89 (RP89) is characterized by classic features of RP as well as features of ciliopathy, including postaxial polydactyly and renal and hepatic disease. Onset of symptoms is within the first decade of life (Cogne et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of RP, see 268000. [from OMIM]

Clinical features

From HPO
Postaxial polydactyly
MedGen UID:
67394
Concept ID:
C0220697
Congenital Abnormality
Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial Polydactyly Other forms of postaxial polydactyly type A include PAPA2 (602085) on chromosome 13q21; PAPA3 (607324) on chromosome 19p13; PAPA4 (608562) on chromosome 7q22; PAPA5 (263450) on chromosome 13q13; PAPA6 (615226), caused by mutation in the ZNF141 gene (194648) on chromosome 4p16; PAPA7 (617642), caused by mutation in the IQCE gene (617631) on chromosome 7p22; PAPA8 (618123), caused by mutation in the GLI1 gene (165220) on chromosome 12q13; PAPA9 (618219), caused by mutation in the CIBAR1 gene (617273) on chromosome 8q22; and PAPA10 (618498), caused by mutation in the KIAA0825 gene (617266) on chromosome 5q15.
Bicuspid aortic valve
MedGen UID:
57436
Concept ID:
C0149630
Congenital Abnormality
Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).
Esophageal varix
MedGen UID:
5027
Concept ID:
C0014867
Disease or Syndrome
Extreme dilation of the submucusoal veins in the lower portion of the esophagus.
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Hepatic fibrosis
MedGen UID:
116093
Concept ID:
C0239946
Disease or Syndrome
The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
Micronodular cirrhosis
MedGen UID:
75640
Concept ID:
C0267812
Disease or Syndrome
A type of cirrhosis characterized by the presence of small regenerative nodules.
Intrahepatic bile duct dilatation
MedGen UID:
903901
Concept ID:
C4229071
Anatomical Abnormality
Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Constriction of peripheral visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
Retinal thinning
MedGen UID:
762617
Concept ID:
C3549703
Finding
Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).
Abnormal light-adapted flicker electroretinogram
MedGen UID:
892764
Concept ID:
C4072963
Finding
Hyperautofluorescent retinal lesion
MedGen UID:
1368849
Concept ID:
C4476623
Finding
Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.
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.

Professional guidelines

PubMed

Lazareva J, Brady SM, Yanovski JA
Expert Opin Pharmacother 2023 Apr;24(6):667-674. Epub 2023 Apr 6 doi: 10.1080/14656566.2023.2199152. PMID: 37013719Free PMC Article
Birtel J, Gliem M, Oishi A, Müller PL, Herrmann P, Holz FG, Mangold E, Knapp M, Bolz HJ, Charbel Issa P
Clin Exp Ophthalmol 2019 Aug;47(6):779-786. Epub 2019 May 8 doi: 10.1111/ceo.13516. PMID: 30977268
Schuster A, Weisschuh N, Jägle H, Besch D, Janecke AR, Zierler H, Tippmann S, Zrenner E, Wissinger B
Br J Ophthalmol 2005 Oct;89(10):1258-64. doi: 10.1136/bjo.2004.063933. PMID: 16170112Free PMC Article

Recent clinical studies

Etiology

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
Schneider N, Sundaresan Y, Gopalakrishnan P, Beryozkin A, Hanany M, Levanon EY, Banin E, Ben-Aroya S, Sharon D
Prog Retin Eye Res 2022 Jul;89:101029. Epub 2021 Nov 25 doi: 10.1016/j.preteyeres.2021.101029. PMID: 34839010
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
Luo YH, da Cruz L
Prog Retin Eye Res 2016 Jan;50:89-107. Epub 2015 Sep 25 doi: 10.1016/j.preteyeres.2015.09.003. PMID: 26404104
Eysteinsson T, Hardarson SH, Bragason D, Stefánsson E
Acta Ophthalmol 2014 Aug;92(5):449-53. Epub 2014 Apr 27 doi: 10.1111/aos.12359. PMID: 24767302

Diagnosis

Gao S, Zhang Q, Ding Y, Wang L, Li Z, Hu F, Yao RE, Yu T, Chang G, Wang X
Orphanet J Rare Dis 2024 Apr 8;19(1):149. doi: 10.1186/s13023-024-03150-9. PMID: 38584252Free PMC Article
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
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
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
Gaspar P, Almudi I, Nunes MDS, McGregor AP
Hum Genet 2019 Sep;138(8-9):973-991. Epub 2018 Nov 1 doi: 10.1007/s00439-018-1948-2. PMID: 30386938

Therapy

Tuohy GP, Megaw R
Biomolecules 2021 May 19;11(5) doi: 10.3390/biom11050760. PMID: 34069580Free PMC Article
Luo YH, da Cruz L
Prog Retin Eye Res 2016 Jan;50:89-107. Epub 2015 Sep 25 doi: 10.1016/j.preteyeres.2015.09.003. PMID: 26404104
Chen YF, Wang IJ, Su CC, Chen MS
Optom Vis Sci 2012 Apr;89(4):471-82. doi: 10.1097/OPX.0b013e31824c0b0b. PMID: 22388669
Clemson CM, Tzekov R, Krebs M, Checchi JM, Bigelow C, Kaushal S
Br J Ophthalmol 2011 Jan;95(1):89-93. Epub 2010 Jul 20 doi: 10.1136/bjo.2009.175356. PMID: 20647559
Zlotogora J
Hum Genet 2010 Nov;128(5):473-9. Epub 2010 Sep 18 doi: 10.1007/s00439-010-0890-8. PMID: 20852892

Prognosis

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
Meral N, Zabek O, Camenzind Zuche H, Müller U, Prétot D, Rickmann A, Scholl HPN, Della Volpe Waizel M
Ophthalmic Res 2022;65(1):52-59. Epub 2021 Oct 4 doi: 10.1159/000519998. PMID: 34607326
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
Cai CX, Locke KG, Ramachandran R, Birch DG, Hood DC
Invest Ophthalmol Vis Sci 2014 Oct 23;55(11):7417-22. doi: 10.1167/iovs.14-15013. PMID: 25342618Free PMC Article
Chen YF, Wang IJ, Su CC, Chen MS
Optom Vis Sci 2012 Apr;89(4):471-82. doi: 10.1097/OPX.0b013e31824c0b0b. PMID: 22388669

Clinical prediction guides

Bianco L, Arrigo A, Antropoli A, Del Fabbro S, Panina-Bordignon P, Peri C, Brambilla E, Pina A, Basile G, Hassan Farah R, Saladino A, Aragona E, Cascavilla ML, Bandello F, Battaglia Parodi M, Pulido JS
Invest Ophthalmol Vis Sci 2023 Dec 1;64(15):13. doi: 10.1167/iovs.64.15.13. PMID: 38088826Free PMC Article
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
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
Schneider N, Sundaresan Y, Gopalakrishnan P, Beryozkin A, Hanany M, Levanon EY, Banin E, Ben-Aroya S, Sharon D
Prog Retin Eye Res 2022 Jul;89:101029. Epub 2021 Nov 25 doi: 10.1016/j.preteyeres.2021.101029. PMID: 34839010
Fletcher EL
Microsc Res Tech 2000 Jul 15;50(2):89-102. doi: 10.1002/1097-0029(20000715)50:2<89::AID-JEMT1>3.0.CO;2-9. PMID: 10891873

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