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

被引：0

作者：

Raimondi, Raffaele ^{[1
]}

D'Esposito, Fabiana ^{[2
,3
]}

Sorrentino, Tania ^{[1
]}

Tsoutsanis, Panos ^{[1
]}

De Rosa, Francesco Paolo ^{[1
]}

Stradiotto, Elisa ^{[1
]}

Barone, Gianmaria ^{[1
]}

Rizzato, Angelica ^{[4
]}

Allegrini, Davide ^{[5
]}

Costagliola, Ciro ^{[3
]}

Romano, Mario R. R. ^{[1
,5
]}

机构：

[1] Humanitas Univ, Dept Biomed Sci, Via R Levi Montalcini 4, I-20072 Milan, Italy

[2] Imperial Coll, Imperial Coll Ophthalm Res Grp ICORG Unit, 153-173 Marylebone Rd, London, England

[3] Univ Naples Federico II, Dept Neurosci, Reprod Sci & Dent, Via Pansini 5, I-80131 Naples, Italy

[4] Osped Regionale Lugano, CH-6900 Lugano, Switzerland

[5] Eye Ctr, I-24125 Bergamo, Italy

来源：

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 2023年 / 24卷 / 11期

关键词：

macular dystrophies; inherited retinal dystrophies; genetics; genetic testing; genotype; phenotype correlation; X-LINKED RETINOSCHISIS; RETINAL DYSTROPHY; RETINITIS-PIGMENTOSA; VECTORS; PROGRESSION; PREVALENCE; GUIDELINES; VARIANTS; SAFETY;

D O I：

10.3390/ijms24119722

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页数：19

共 50 条

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