How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization-Reference-Cited by-同舟云学术

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

Published:2023-06-03 Issue:11 Volume:24 Page:9722
ISSN:1422-0067
Container-title:International Journal of Molecular Sciences
language:en
Short-container-title:IJMS

Author:

Raimondi Raffaele¹^ORCID,D’Esposito Fabiana²³^ORCID,Sorrentino Tania¹,Tsoutsanis Panos¹^ORCID,De Rosa Francesco Paolo¹^ORCID,Stradiotto Elisa¹,Barone Gianmaria¹,Rizzato Angelica⁴,Allegrini Davide⁵^ORCID,Costagliola Ciro³,Romano Mario R.¹⁵

Affiliation:

1. Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, Pieve Emanuele, 20072 Milan, Italy

2. Imperial College Ophthalmic Research Group (ICORG) Unit, Imperial College, 153-173 Marylebone Rd, London NW1 5QH, UK

3. Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples Federico II, Via Pansini 5, 80131 Napoli, Italy

4. Ospedale Regionale di Lugano, 6900 Lugano, Switzerland

5. Eye Center, Humanitas Gavazzeni-Castelli, 24125 Bergamo, Italy

Abstract

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.

Publisher

MDPI AG

Subject

Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis

Link

https://www.mdpi.com/1422-0067/24/11/9722/pdf

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