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


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.

SUBMITTER: Raimondi R 

PROVIDER: S-EPMC10253412 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature

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

Raimondi Raffaele R   D'Esposito Fabiana F   Sorrentino Tania T   Tsoutsanis Panos P   De Rosa Francesco Paolo FP   Stradiotto Elisa E   Barone Gianmaria G   Rizzato Angelica A   Allegrini Davide D   Costagliola Ciro C   Romano Mario R MR  

International journal of molecular sciences 20230603 11


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  ...[more]

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