Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review

Nonsyndromic Retinitis Pigmentosa Overview

In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Nonsyndromic Retinitis Pigmentosa Overview

Abigail T Fahim et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Describe the clinical characteristics of nonsyndromic retinitis pigmentosa;

  2. 2

    Review the causes of nonsyndromic retinitis pigmentosa;

  3. 3

    Provide an evaluation strategy to identify the genetic cause of nonsyndromic retinitis pigmentosa in a proband;

  4. 4

    Provide a brief summary of management of nonsyndromic retinitis pigmentosa;

  5. 5

    Inform genetic risk assessment of family members of a proband with nonsyndromic retinitis pigmentosa.

PubMed Disclaimer

Similar articles

  • Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview.
    Kumaran N, Pennesi ME, Yang P, Trzupek KM, Schlechter C, Moore AT, Weleber RG, Michaelides M. Kumaran N, et al. 2018 Oct 4 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2018 Oct 4 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 30285347 Free Books & Documents. Review.
  • Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
    Weleber RG, Francis PJ, Trzupek KM, Beattie C. Weleber RG, et al. 2004 Jul 7 [updated 2013 May 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2004 Jul 7 [updated 2013 May 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301475 Free Books & Documents. Review.
  • Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
    Selinger M, Věchtová P, Tykalová H, Ošlejšková P, Rumlová M, Štěrba J, Grubhoffer L. Selinger M, et al. Comput Struct Biotechnol J. 2022 May 30;20:2759-2777. doi: 10.1016/j.csbj.2022.05.052. eCollection 2022. Comput Struct Biotechnol J. 2022. PMID: 35685361 Free PMC article.
  • Bardet-Biedl Syndrome Overview.
    Forsyth R, Gunay-Aygun M. Forsyth R, et al. 2003 Jul 14 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2003 Jul 14 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301537 Free Books & Documents. Review.
  • Joubert Syndrome.
    Parisi M, Glass I. Parisi M, et al. 2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301500 Free Books & Documents. Review.

References

    1. Aleman TS, Duncan JL, Bieber ML, de Castro E, Marks DA, Gardner LM, Steinberg JD, Cideciyan AV, Maguire MG, Jacobson SG. Macular pigment and lutein supplementation in retinitis pigmentosa and Usher syndrome. Invest Ophthalmol Vis Sci. 2001;42:1873–81. - PubMed
    1. Andréasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S, Filippova E, Yashar BM, Swaroop A. Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified in the RP2 and RPGR-ORF15 genes. Ophthalmic Genet. 2003;24:215–23. - PubMed
    1. Artunay O, Yuzbasioglu E, Rasier R, Sengul A, Bahcecioglu H. Intravitreal ranibizumab in the treatment of cystoids macular edema associated with retinitis pigmentosa. J Ocul Pharmacol Ther. 2009;25:545–50. - PubMed
    1. Audo I, Bujakowska KM, Léveillard T, Mohand-Saïd S, Lancelot ME, Germain A, Antonio A, Michiels C, Saraiva JP, Letexier M, Sahel JA, Bhattacharya SS, Zeitz C. Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis. 2012;7:8. - PMC - PubMed
    1. Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. Invest Ophthalmol Vis Sci. 2003;44:1458–63. - PubMed

LinkOut - more resources