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Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy
Progressive cone and cone-rod dystrophies are a clinically and genetically heterogeneous group of inherited retinal diseases characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. These disorders typically present with progressive loss of centra...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6709772/ https://www.ncbi.nlm.nih.gov/pubmed/30679166 http://dx.doi.org/10.1136/bjophthalmol-2018-313278 |
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author | Gill, Jasdeep S Georgiou, Michalis Kalitzeos, Angelos Moore, Anthony T Michaelides, Michel |
author_facet | Gill, Jasdeep S Georgiou, Michalis Kalitzeos, Angelos Moore, Anthony T Michaelides, Michel |
author_sort | Gill, Jasdeep S |
collection | PubMed |
description | Progressive cone and cone-rod dystrophies are a clinically and genetically heterogeneous group of inherited retinal diseases characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. These disorders typically present with progressive loss of central vision, colour vision disturbance and photophobia. Considerable progress has been made in elucidating the molecular genetics and genotype–phenotype correlations associated with these dystrophies, with mutations in at least 30 genes implicated in this group of disorders. We discuss the genetics, and clinical, psychophysical, electrophysiological and retinal imaging characteristics of cone and cone-rod dystrophies, focusing particularly on four of the most common disease-associated genes: GUCA1A, PRPH2, ABCA4 and RPGR. Additionally, we briefly review the current management of these disorders and the prospects for novel therapies. |
format | Online Article Text |
id | pubmed-6709772 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | BMJ Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-67097722019-09-09 Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy Gill, Jasdeep S Georgiou, Michalis Kalitzeos, Angelos Moore, Anthony T Michaelides, Michel Br J Ophthalmol Review Progressive cone and cone-rod dystrophies are a clinically and genetically heterogeneous group of inherited retinal diseases characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. These disorders typically present with progressive loss of central vision, colour vision disturbance and photophobia. Considerable progress has been made in elucidating the molecular genetics and genotype–phenotype correlations associated with these dystrophies, with mutations in at least 30 genes implicated in this group of disorders. We discuss the genetics, and clinical, psychophysical, electrophysiological and retinal imaging characteristics of cone and cone-rod dystrophies, focusing particularly on four of the most common disease-associated genes: GUCA1A, PRPH2, ABCA4 and RPGR. Additionally, we briefly review the current management of these disorders and the prospects for novel therapies. BMJ Publishing Group 2019-05 2019-01-24 /pmc/articles/PMC6709772/ /pubmed/30679166 http://dx.doi.org/10.1136/bjophthalmol-2018-313278 Text en © Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: http://creativecommons.org/licenses/by/4.0 |
spellingShingle | Review Gill, Jasdeep S Georgiou, Michalis Kalitzeos, Angelos Moore, Anthony T Michaelides, Michel Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy |
title | Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy |
title_full | Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy |
title_fullStr | Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy |
title_full_unstemmed | Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy |
title_short | Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy |
title_sort | progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6709772/ https://www.ncbi.nlm.nih.gov/pubmed/30679166 http://dx.doi.org/10.1136/bjophthalmol-2018-313278 |
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