How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization

Inherited macular dystrophies refer to a group of degenerative conditions that predominantly affect the macula in the spectrum of inherited retinal dystrophies. Recent trends indicate a clear need for genetic assessment services in tertiary referral hospitals. However, establishing such a service ca...

Descripción completa

Detalles Bibliográficos
Autores principales: Raimondi, Raffaele, D’Esposito, Fabiana, Sorrentino, Tania, Tsoutsanis, Panos, De Rosa, Francesco Paolo, Stradiotto, Elisa, Barone, Gianmaria, Rizzato, Angelica, Allegrini, Davide, Costagliola, Ciro, Romano, Mario R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Perspective
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10253412/
https://www.ncbi.nlm.nih.gov/pubmed/37298674
http://dx.doi.org/10.3390/ijms24119722
_version_ 1785056399788605440
author Raimondi, Raffaele
D’Esposito, Fabiana
Sorrentino, Tania
Tsoutsanis, Panos
De Rosa, Francesco Paolo
Stradiotto, Elisa
Barone, Gianmaria
Rizzato, Angelica
Allegrini, Davide
Costagliola, Ciro
Romano, Mario R.
author_facet Raimondi, Raffaele
D’Esposito, Fabiana
Sorrentino, Tania
Tsoutsanis, Panos
De Rosa, Francesco Paolo
Stradiotto, Elisa
Barone, Gianmaria
Rizzato, Angelica
Allegrini, Davide
Costagliola, Ciro
Romano, Mario R.
author_sort Raimondi, Raffaele
collection PubMed
description Inherited macular dystrophies refer to a group of degenerative conditions that predominantly affect the macula in the spectrum of inherited retinal dystrophies. Recent trends indicate a clear need for genetic assessment services in tertiary referral hospitals. However, establishing such a service can be a complex task due to the diverse skills required and multiple professionals involved. This review aims to provide comprehensive guidelines to enhance the genetic characterization of patients and improve counselling efficacy by combining updated literature with our own experiences. Through this review, we hope to contribute to the establishment of state-of-the-art genetic counselling services for inherited macular dystrophies.
format Online
Article
Text
id pubmed-10253412
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-102534122023-06-10 How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization Raimondi, Raffaele D’Esposito, Fabiana Sorrentino, Tania Tsoutsanis, Panos De Rosa, Francesco Paolo Stradiotto, Elisa Barone, Gianmaria Rizzato, Angelica Allegrini, Davide Costagliola, Ciro Romano, Mario R. Int J Mol Sci Perspective Inherited macular dystrophies refer to a group of degenerative conditions that predominantly affect the macula in the spectrum of inherited retinal dystrophies. Recent trends indicate a clear need for genetic assessment services in tertiary referral hospitals. However, establishing such a service can be a complex task due to the diverse skills required and multiple professionals involved. This review aims to provide comprehensive guidelines to enhance the genetic characterization of patients and improve counselling efficacy by combining updated literature with our own experiences. Through this review, we hope to contribute to the establishment of state-of-the-art genetic counselling services for inherited macular dystrophies. MDPI 2023-06-03 /pmc/articles/PMC10253412/ /pubmed/37298674 http://dx.doi.org/10.3390/ijms24119722 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Perspective
Raimondi, Raffaele
D’Esposito, Fabiana
Sorrentino, Tania
Tsoutsanis, Panos
De Rosa, Francesco Paolo
Stradiotto, Elisa
Barone, Gianmaria
Rizzato, Angelica
Allegrini, Davide
Costagliola, Ciro
Romano, Mario R.
How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization
title How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization
title_full How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization
title_fullStr How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization
title_full_unstemmed How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization
title_short How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization
title_sort how to set up genetic counselling for inherited macular dystrophies: focus on genetic characterization
topic Perspective
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10253412/
https://www.ncbi.nlm.nih.gov/pubmed/37298674
http://dx.doi.org/10.3390/ijms24119722
work_keys_str_mv AT raimondiraffaele howtosetupgeneticcounsellingforinheritedmaculardystrophiesfocusongeneticcharacterization
AT despositofabiana howtosetupgeneticcounsellingforinheritedmaculardystrophiesfocusongeneticcharacterization
AT sorrentinotania howtosetupgeneticcounsellingforinheritedmaculardystrophiesfocusongeneticcharacterization
AT tsoutsanispanos howtosetupgeneticcounsellingforinheritedmaculardystrophiesfocusongeneticcharacterization
AT derosafrancescopaolo howtosetupgeneticcounsellingforinheritedmaculardystrophiesfocusongeneticcharacterization
AT stradiottoelisa howtosetupgeneticcounsellingforinheritedmaculardystrophiesfocusongeneticcharacterization
AT baronegianmaria howtosetupgeneticcounsellingforinheritedmaculardystrophiesfocusongeneticcharacterization
AT rizzatoangelica howtosetupgeneticcounsellingforinheritedmaculardystrophiesfocusongeneticcharacterization
AT allegrinidavide howtosetupgeneticcounsellingforinheritedmaculardystrophiesfocusongeneticcharacterization
AT costagliolaciro howtosetupgeneticcounsellingforinheritedmaculardystrophiesfocusongeneticcharacterization
AT romanomarior howtosetupgeneticcounsellingforinheritedmaculardystrophiesfocusongeneticcharacterization

Ejemplares similares