The Pattern Dystrophies

Chowers, Itay; Boon, Camiel J F

doi:10.1007/978-3-319-26621-3_2

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2023

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“…Other possible symptoms observed in IMDs are metamorphopsias, impaired color vision, and photophobia. In advanced stages of disease, when mid peripheral and peripheral retina can be involved as well, patients can notice varying degrees of night blindness and difficulties in dark adaptation [42]. Choroidal neovascularization can complicate the phenotype, and occurs more frequently in some conditions, including EFEMP1, TIMP3, BEST1, and PRPH2-related dystrophies.…”

Section: Transmissionmentioning

confidence: 99%

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

Raimondi

D’Esposito

Sorrentino

et al. 2023

IJMS

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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.

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Section: Transmissionmentioning

confidence: 99%