Titlebook: Genetics of Ocular Diseases; H. V. Nema,Nitin Nema Book 2022 The Editor(s) (if applicable) and The Author(s), under exclusive license to S

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https://doi.org/10.1007/978-3-642-94546-5ations. It also highlights the importance of next-generation sequencing using targeted panel, whole exome, and genome sequencing in the identification of disease-causing variants and differential diagnosis in RP families. The genetic diagnosis has paved the way not only for future gene therapy trial

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nosis of genetic eye diseases as well as help the geneticists in understaning the basic concepts. It will also be useful for students who are preparing for MD, MS, DNB and FRCS examinations..978-981-16-4249-4978-981-16-4247-0

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Principles of Genetic Counseling in Eye Diseases, manner, that the patient and family receive adequate information as well as the necessary support. During counseling, the patient’s diagnosis and inheritance patterns should be considered. Information about the available molecular testing, management options and prenatal testing should be explained.

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Genetics in Age-Related Macular Degeneration,less of the immense genetic information discovered so far, diagnostic genetic or biomarker tests are still unavailable to aid in clinical management. Herein we review the advances made in genetics in AMD so far.

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Die Pathologie des Herzstoffwechsels,n taken to study the role of genetics in the causation of keratoconus including twin studies, familial associations, linkage studies, and genome-wide analysis. This chapter aims to comprehensively describe the studies that provide evidence for the role of genetics in keratoconus which is a common yet etiologically a complex disease.

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Michael Haller,Martin Niggeschmidtapter discusses the various genes including myocilin and optineurin which are associated with glaucoma, the process of identification, the strength of association and their future role in therapeutics.

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