Nonsyndromic Retinitis Pigmentosa Overview
- PMID: 20301590
- Bookshelf ID: NBK1417
Nonsyndromic Retinitis Pigmentosa Overview
Excerpt
The purpose of this overview is to:
- 1
Describe the clinical characteristics of nonsyndromic retinitis pigmentosa;
- 2
Review the causes of nonsyndromic retinitis pigmentosa;
- 3
Provide an evaluation strategy to identify the genetic cause of nonsyndromic retinitis pigmentosa in a proband;
- 4
Provide a brief summary of management of nonsyndromic retinitis pigmentosa;
- 5
Inform genetic risk assessment of family members of a proband with nonsyndromic retinitis pigmentosa.
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Sections
- Summary
- 1. Clinical Characteristics of Nonsyndromic Retinitis Pigmentosa
- 2. Causes of Nonsyndromic Retinitis Pigmentosa
- 3. Evaluation Strategy to Identify the Genetic Cause of Nonsyndromic Retinitis Pigmentosa in a Proband
- 4. Management of Nonsyndromic Retinitis Pigmentosa
- 5. Genetic Risk Assessment
- Resources
- Chapter Notes
- References
References
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- 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
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- 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
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- 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
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- 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
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