U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
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.
Undetectable electroretinogram
MedGen UID:
383742
Concept ID:
C1855685
Finding
Lack of any response to stimulation upon electroretinography.
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.
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.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Partin S, Westfall E, Sanda G, Branham K, Muir K, Bellcross C, Jain N
Ophthalmic Genet 2023 Feb;44(1):43-48. Epub 2022 Oct 14 doi: 10.1080/13816810.2022.2135113. PMID: 36239593
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
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

Recent clinical studies

Etiology

Heath Jeffery RC, Chen FK
Surv Ophthalmol 2024 Jan-Feb;69(1):1-23. Epub 2023 Aug 6 doi: 10.1016/j.survophthal.2023.07.007. PMID: 37544613
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
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
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
Vingolo EM, Limoli PG, Steigerwalt RDJ, Carlesimo SC, Salvatore S
Int Ophthalmol 2020 Jan;40(1):179-184. Epub 2019 Aug 28 doi: 10.1007/s10792-019-01166-w. PMID: 31463623

Diagnosis

Heath Jeffery RC, Chen FK
Surv Ophthalmol 2024 Jan-Feb;69(1):1-23. Epub 2023 Aug 6 doi: 10.1016/j.survophthal.2023.07.007. PMID: 37544613
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
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
Hafler BP, Comander J, Weigel DiFranco C, Place EM, Pierce EA
Semin Ophthalmol 2016;31(1-2):49-52. doi: 10.3109/08820538.2015.1114856. PMID: 26959129Free PMC Article
Shakin EP, Lucier AC
J Ophthalmic Nurs Technol 1990 Jan-Feb;9(1):6-9. PMID: 2313710

Therapy

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
Dizdar Yigit D, Sevik MO, Şahin Ö
Retina 2022 May 1;42(5):923-933. doi: 10.1097/IAE.0000000000003386. PMID: 34923514
Huang H, Wang J, Li H, Lei R, Zou W, Huang Q, Gao N, Zheng Y
BMJ Open 2021 Nov 12;11(11):e049245. doi: 10.1136/bmjopen-2021-049245. PMID: 34772749Free PMC Article
Özmert E, Arslan U
Stem Cell Res Ther 2020 Aug 12;11(1):353. doi: 10.1186/s13287-020-01870-w. PMID: 32787913Free PMC Article
Berson EL, Weigel-DiFranco C, Rosner B, Gaudio AR, Sandberg MA
JAMA Ophthalmol 2018 May 1;136(5):490-495. doi: 10.1001/jamaophthalmol.2018.0590. PMID: 29596553Free PMC Article

Prognosis

Heath Jeffery RC, Chen FK
Surv Ophthalmol 2024 Jan-Feb;69(1):1-23. Epub 2023 Aug 6 doi: 10.1016/j.survophthal.2023.07.007. PMID: 37544613
Kocaaga A, Aköz İÖ, Demir NU, Paksoy B
Rev Assoc Med Bras (1992) 2023;69(5):e20221073. Epub 2023 May 19 doi: 10.1590/1806-9282.20221073. PMID: 37222315Free PMC Article
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
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
Hafler BP, Comander J, Weigel DiFranco C, Place EM, Pierce EA
Semin Ophthalmol 2016;31(1-2):49-52. doi: 10.3109/08820538.2015.1114856. PMID: 26959129Free PMC Article

Clinical prediction guides

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
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
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
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
Hafler BP, Comander J, Weigel DiFranco C, Place EM, Pierce EA
Semin Ophthalmol 2016;31(1-2):49-52. doi: 10.3109/08820538.2015.1114856. PMID: 26959129Free 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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...