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Méjécase C, Malka S, Guan Z, et al. Practical guide to genetic screening for inherited eye diseases. Ther Adv Ophthalmol. 2020;12:2515841420954592doi: 10.1177/2515841420954592.
Méjécase, C., Malka, S., Guan, Z., Slater, A., Arno, G., & Moosajee, M. (2020). Practical guide to genetic screening for inherited eye diseases. Therapeutic advances in ophthalmology, 122515841420954592. https://doi.org/10.1177/2515841420954592
Méjécase, Cécile, et al. "Practical guide to genetic screening for inherited eye diseases." Therapeutic advances in ophthalmology vol. 12 (2020): 2515841420954592. doi: https://doi.org/10.1177/2515841420954592
Méjécase C, Malka S, Guan Z, Slater A, Arno G, Moosajee M. Practical guide to genetic screening for inherited eye diseases. Ther Adv Ophthalmol. 2020 Sep 22;12:2515841420954592. doi: 10.1177/2515841420954592. eCollection 2020. PMID: 33015543; PMCID: PMC7513416.
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Ther Adv Ophthalmol. 2020 Sep 22;12:2515841420954592. doi: 10.1177/2515841420954592. eCollection 2020.

Practical guide to genetic screening for inherited eye diseases.

Therapeutic advances in ophthalmology

Cécile Méjécase, Samantha Malka, Zeyu Guan, Amy Slater, Gavin Arno, Mariya Moosajee

Affiliations

  1. Institute of Ophthalmology, University College London, London, UK.
  2. Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  3. Royal Brompton and Harefield NHS Foundation Trust, London, UK.
  4. Professor, Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK.

PMID: 33015543 PMCID: PMC7513416 DOI: 10.1177/2515841420954592

Abstract

Genetic eye diseases affect around one in 1000 people worldwide for which the molecular aetiology remains unknown in the majority. The identification of disease-causing gene variant(s) allows a better understanding of the disorder and its inheritance. There is now an approved retinal gene therapy for autosomal recessive

© The Author(s), 2020.

Keywords: family planning; genetic counselling; genetic screening; inherited eye disease; next generation sequencing; whole exome sequencing and whole genome sequencing

Conflict of interest statement

Conflict of interest statement: The authors declared no potential conflicts of interest with respect to the research, authorship and/or publication of this article.

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