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Approach to inherited retinal diseases

Inherited retinal diseases (IRDs) are a group of phenotypically diverse disorders with varied genetic mutations, which result in retinal degeneration leading to visual impairment. When a patient presents to a clinician who is not an IRD expert, establishing a correct diagnosis can be challenging. Th...

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Autores principales: Ratra, Dhanashree, Ozdek, Sengul, Raviselvan, Munispriyan, Elchuri, Sailaja, Sharma, Tarun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426075/
https://www.ncbi.nlm.nih.gov/pubmed/35791111
http://dx.doi.org/10.4103/ijo.IJO_314_22
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author Ratra, Dhanashree
Ozdek, Sengul
Raviselvan, Munispriyan
Elchuri, Sailaja
Sharma, Tarun
author_facet Ratra, Dhanashree
Ozdek, Sengul
Raviselvan, Munispriyan
Elchuri, Sailaja
Sharma, Tarun
author_sort Ratra, Dhanashree
collection PubMed
description Inherited retinal diseases (IRDs) are a group of phenotypically diverse disorders with varied genetic mutations, which result in retinal degeneration leading to visual impairment. When a patient presents to a clinician who is not an IRD expert, establishing a correct diagnosis can be challenging. The patient and the family members are often anxious about further vision loss. They are eager to know the prognosis and chance of further worsening of the vision. It is important for every eye specialist to educate himself/herself about the basics of IRD. It would help to familiarize oneself about how to approach a patient with an IRD. An early and accurate diagnosis can help predict the vision loss and also help the patient plan his/her education and choose appropriate career choices. An updated knowledge about the genetic mutations, mode of inheritance, and possible therapies would empower the eye specialist to help his/her patients. This article gives a broad plan of how to approach a patient with IRD with regards to characterization and diagnosis of the disorder, visual rehabilitation, and possible therapy.
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spelling pubmed-94260752022-08-31 Approach to inherited retinal diseases Ratra, Dhanashree Ozdek, Sengul Raviselvan, Munispriyan Elchuri, Sailaja Sharma, Tarun Indian J Ophthalmol Review Article Inherited retinal diseases (IRDs) are a group of phenotypically diverse disorders with varied genetic mutations, which result in retinal degeneration leading to visual impairment. When a patient presents to a clinician who is not an IRD expert, establishing a correct diagnosis can be challenging. The patient and the family members are often anxious about further vision loss. They are eager to know the prognosis and chance of further worsening of the vision. It is important for every eye specialist to educate himself/herself about the basics of IRD. It would help to familiarize oneself about how to approach a patient with an IRD. An early and accurate diagnosis can help predict the vision loss and also help the patient plan his/her education and choose appropriate career choices. An updated knowledge about the genetic mutations, mode of inheritance, and possible therapies would empower the eye specialist to help his/her patients. This article gives a broad plan of how to approach a patient with IRD with regards to characterization and diagnosis of the disorder, visual rehabilitation, and possible therapy. Wolters Kluwer - Medknow 2022-07 2022-06-30 /pmc/articles/PMC9426075/ /pubmed/35791111 http://dx.doi.org/10.4103/ijo.IJO_314_22 Text en Copyright: © 2022 Indian Journal of Ophthalmology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Review Article
Ratra, Dhanashree
Ozdek, Sengul
Raviselvan, Munispriyan
Elchuri, Sailaja
Sharma, Tarun
Approach to inherited retinal diseases
title Approach to inherited retinal diseases
title_full Approach to inherited retinal diseases
title_fullStr Approach to inherited retinal diseases
title_full_unstemmed Approach to inherited retinal diseases
title_short Approach to inherited retinal diseases
title_sort approach to inherited retinal diseases
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426075/
https://www.ncbi.nlm.nih.gov/pubmed/35791111
http://dx.doi.org/10.4103/ijo.IJO_314_22
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