title: Inherited Retinal Dystrophies: the role of gene expression regulators.
abstract: Inherited Retinal Dystrophies (IRDs) are a clinically and genetically heterogeneous group of rare disorders characterized by a significant impairment in retinal function and vision. More than 150 genes have been associated with retinal dystrophies and the genetic overlap among different IRDs renders diagnosis and prognosis challenging. In this In Focus article, we give a summary on the pathogenic role of gene expression regulators in IRDs. Emphasis is given on key transcription factors that participate to regulatory gene networks controlling photoreceptor specification and maintenance, and their possible relevance as therapeutic targets. The increasing knowledge on the composition and function of these transcriptional regulatory networks indicates that intervening on transcription factors may be instrumental for a more effective treatment of some forms of IRDs, although the development of appropriate molecular tools to target them remains a formidable challenge.
authors.affiliation: Telethon Institute for Genetics and Medicine, via Campi Flegrei 34, 80078 Pozzuoli, NA, Italy.
authors.forename: Marianthi
authors.initials: M
authors.lastname: Karali
authors.affiliation: Telethon Institute for Genetics and Medicine, via Campi Flegrei 34, 80078 Pozzuoli, NA, Italy; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Second University of Naples, via Luigi De Crecchio 7, 80138 Naples, Italy. Electronic address: banfi@tigem.it.
authors.forename: Sandro
authors.initials: S
authors.lastname: Banfi
mesh_terms: D000818:Animals; D005786:Gene Expression Regulation; D006801:Humans; D058499:Retinal Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
keywords: CRX; Inherited Retinal Dystrophies; NRL; OTX2; Transcription factors