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Retinitis pigmentosa 69(RP69)

MedGen UID:
862749
•Concept ID:
C4014312
•
Disease or Syndrome
Synonym: RP69
 
Gene (location): KIZ (20p11.23)
 
Monarch Initiative: MONDO:0014345
OMIM®: 615780

Definition

Retinitis pigmentosa (RP), also designated rod-cone dystrophy, is characterized by initial night blindness due to rod dysfunction, with subsequent progressive constriction of visual fields, abnormal color vision, and eventual loss of central vision due to cone photoreceptor involvement (summary by El Shamieh et al., 2014). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

Clinical features

From HPO
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
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.
See: Feature record | Search on this feature
Undetectable electroretinogram
MedGen UID:
383742
•Concept ID:
C1855685
•
Finding
Lack of any response to stimulation upon electroretinography.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Pigmentary retinopathy
MedGen UID:
1643295
•Concept ID:
C4551715
•
Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.
See: Feature record | Search on this feature
Perifoveal hypoautofluorescence
MedGen UID:
1814406
•Concept ID:
C5676842
•
Finding
Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Clinical characteristics of comorbid retinal dystrophies and primary angle closure disease.
Parameswarappa DC, Doctor MB, Natarajan R, Rani PK, Garudadri C, Jalali S, Senthil S
Int Ophthalmol 2022 Oct;42(10):3137-3144. Epub 2022 May 18 doi: 10.1007/s10792-022-02313-6. PMID: 35585370
Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.
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
Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy.
Florian A, Ludwig A, Stubbe-Dräger B, Boentert M, Young P, Waltenberger J, Rösch S, Sechtem U, Yilmaz A
J Cardiovasc Magn Reson 2015 May 22;17(1):40. doi: 10.1186/s12968-015-0145-x. PMID: 26001801Free PMC Article

Recent clinical studies

Etiology

Thicknesses of the retina and choroid in children with retinitis pigmentosa.
Li C, Peng C, Zhang C, Li N
BMC Ophthalmol 2023 Jan 17;23(1):25. doi: 10.1186/s12886-023-02772-0. PMID: 36650468Free PMC Article
Longitudinal Microstructure Changes of the Retina and Choroid in Retinitis Pigmentosa.
Yoon CK, Bae K, Yu HG
Am J Ophthalmol 2022 Sep;241:149-159. Epub 2022 May 9 doi: 10.1016/j.ajo.2022.05.002. PMID: 35551907
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Association of retinal biomarkers and choroidal vascularity index on optical coherence tomography using binarization method in retinitis pigmentosa.
Cetin EN, Parca O, Akkaya HS, Pekel G
Graefes Arch Clin Exp Ophthalmol 2020 Jan;258(1):23-30. Epub 2019 Nov 12 doi: 10.1007/s00417-019-04516-7. PMID: 31713751
Cutaneous findings in Bardet-Biedl syndrome.
Haws RM, McIntee TJ, Green CB
Int J Dermatol 2019 Oct;58(10):1160-1164. Epub 2019 Feb 20 doi: 10.1111/ijd.14412. PMID: 30790276

Diagnosis

Longitudinal Microstructure Changes of the Retina and Choroid in Retinitis Pigmentosa.
Yoon CK, Bae K, Yu HG
Am J Ophthalmol 2022 Sep;241:149-159. Epub 2022 May 9 doi: 10.1016/j.ajo.2022.05.002. PMID: 35551907
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Asymmetric diabetic retinopathy.
Azad R, Sinha S, Nishant P
Indian J Ophthalmol 2021 Nov;69(11):3026-3034. doi: 10.4103/ijo.IJO_1525_21. PMID: 34708738Free PMC Article
Cutaneous findings in Bardet-Biedl syndrome.
Haws RM, McIntee TJ, Green CB
Int J Dermatol 2019 Oct;58(10):1160-1164. Epub 2019 Feb 20 doi: 10.1111/ijd.14412. PMID: 30790276
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
Saudubray JM, Martin D, de Lonlay P, Touati G, Poggi-Travert F, Bonnet D, Jouvet P, Boutron M, Slama A, Vianey-Saban C, Bonnefont JP, Rabier D, Kamoun P, Brivet M
J Inherit Metab Dis 1999 Jun;22(4):488-502. doi: 10.1023/a:1005556207210. PMID: 10407781

Therapy

Progression of Pentosan-Polysulfate Sodium-Associated Retinopathy: Intermediate Follow-Up.
Leung EH, Levie-Sprick A, Sharma S, Lee GD, Cho H, Yee DC, Mukkamala K
Ophthalmic Surg Lasers Imaging Retina 2023 Jul;54(7):388-394. Epub 2023 Jun 1 doi: 10.3928/23258160-20230522-02. PMID: 37310751
Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies.
Roshandel D, Thompson JA, Heath Jeffery RC, Sampson DM, Chelva E, McLaren TL, Lamey TM, De Roach JN, Durkin SR, Chen FK
Transl Vis Sci Technol 2021 Feb 5;10(2):38. doi: 10.1167/tvst.10.2.38. PMID: 34003923Free PMC Article
Improved retinal and visual function following panmacular subthreshold diode micropulse laser for retinitis pigmentosa.
Luttrull JK
Eye (Lond) 2018 Jun;32(6):1099-1110. Epub 2018 Feb 16 doi: 10.1038/s41433-018-0017-3. PMID: 29449615Free PMC Article
Assessment of the Electronic Retinal Implant Alpha AMS in Restoring Vision to Blind Patients with End-Stage Retinitis Pigmentosa.
Edwards TL, Cottriall CL, Xue K, Simunovic MP, Ramsden JD, Zrenner E, MacLaren RE
Ophthalmology 2018 Mar;125(3):432-443. Epub 2017 Oct 27 doi: 10.1016/j.ophtha.2017.09.019. PMID: 29110946Free PMC Article
Sleep disordered breathing in Bardet-Biedl Syndrome.
Yeung JC, Katwa UA, Lee GS
Int J Pediatr Otorhinolaryngol 2017 Nov;102:127-132. Epub 2017 Sep 12 doi: 10.1016/j.ijporl.2017.09.004. PMID: 29106859

Prognosis

Progression of Pentosan-Polysulfate Sodium-Associated Retinopathy: Intermediate Follow-Up.
Leung EH, Levie-Sprick A, Sharma S, Lee GD, Cho H, Yee DC, Mukkamala K
Ophthalmic Surg Lasers Imaging Retina 2023 Jul;54(7):388-394. Epub 2023 Jun 1 doi: 10.3928/23258160-20230522-02. PMID: 37310751
Cataract surgery in retinitis pigmentosa.
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Assessment of the Electronic Retinal Implant Alpha AMS in Restoring Vision to Blind Patients with End-Stage Retinitis Pigmentosa.
Edwards TL, Cottriall CL, Xue K, Simunovic MP, Ramsden JD, Zrenner E, MacLaren RE
Ophthalmology 2018 Mar;125(3):432-443. Epub 2017 Oct 27 doi: 10.1016/j.ophtha.2017.09.019. PMID: 29110946Free PMC Article
Sleep disordered breathing in Bardet-Biedl Syndrome.
Yeung JC, Katwa UA, Lee GS
Int J Pediatr Otorhinolaryngol 2017 Nov;102:127-132. Epub 2017 Sep 12 doi: 10.1016/j.ijporl.2017.09.004. PMID: 29106859
Association between genotype and phenotype in families with mutations in the ABCA4 gene.
Kjellström U
Mol Vis 2014;20:89-104. Epub 2014 Jan 7 PMID: 24453473Free PMC Article

Clinical prediction guides

Subtenon implantation of wharton's jelly-derived mesenchymal stromal cells in retinitis pigmentosa.
Nor Khairullah S, Nor Fariza N, Roslin AAZ, Angelina T
Med J Malaysia 2022 Sep;77(5):564-568. PMID: 36169067
Longitudinal Microstructure Changes of the Retina and Choroid in Retinitis Pigmentosa.
Yoon CK, Bae K, Yu HG
Am J Ophthalmol 2022 Sep;241:149-159. Epub 2022 May 9 doi: 10.1016/j.ajo.2022.05.002. PMID: 35551907
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Asymmetric diabetic retinopathy.
Azad R, Sinha S, Nishant P
Indian J Ophthalmol 2021 Nov;69(11):3026-3034. doi: 10.4103/ijo.IJO_1525_21. PMID: 34708738Free PMC Article
Stemming retinal regeneration with pluripotent stem cells.
Jin ZB, Gao ML, Deng WL, Wu KC, Sugita S, Mandai M, Takahashi M
Prog Retin Eye Res 2019 Mar;69:38-56. Epub 2018 Nov 9 doi: 10.1016/j.preteyeres.2018.11.003. PMID: 30419340

Recent systematic reviews

Diagnostic accuracy of artificial intelligence in detecting retinitis pigmentosa: A systematic review and meta-analysis.
Musleh AM, AlRyalat SA, Abid MN, Salem Y, Hamila HM, Sallam AB
Surv Ophthalmol 2024 May-Jun;69(3):411-417. Epub 2023 Dec 1 doi: 10.1016/j.survophthal.2023.11.010. PMID: 38042377

Supplemental Content

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    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

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