Genetics of Eye Diseases

An Overview

  • Chitra┬áKannabiran

Table of contents

  1. Front Matter
    Pages i-xi
  2. Chitra Kannabiran
    Pages 1-30
  3. Chitra Kannabiran
    Pages 31-59
  4. Chitra Kannabiran
    Pages 61-63
  5. Chitra Kannabiran
    Pages 65-80
  6. Chitra Kannabiran
    Pages 81-172

About this book


This book provides comprehensive information on the genetics of eye diseases affecting various parts of the eye, and addresses a range of genetic etiologies. These diseases include several hereditary disorders of anterior and posterior segment, and with different genetic etiologies.

The genetics of eye diseases is a field that has been rapidly growing over the last two decades, and comprises a vast area with considerable clinical and genetic heterogeneity. The main goal of this work is to discuss the status quo of genetics for each of the disorders covered, and to highlight unusual or atypical patterns of inheritance and genetic associations. For each relevant gene, it describes the pathogenic associations and variants, genotype-phenotype correlations, and functions at the cellular and molecular level.  

Genetics of Eye Diseases offers a valuable reference guide for geneticists and clinicians alike, while also providing a comprehensive overview of the field for graduate and doctoral-level students. In addition to sharing essential information on the genetics of each disease, it highlights recent advances that are representative of the developments in the field as a whole.


Genes in eye diseases Genotypes in ophthalmology Phenotypes Mutations in eye diseases Polymorphisms in eye diseases Functional genomics in ophthalmology Genetic heterogeneity

Authors and affiliations

  • Chitra┬áKannabiran
    • 1
  1. 1.Kallam Anji Reddy Molecular Genetics LaboratoryL V Prasad Eye Institute (LVPEI)HyderabadIndia

Bibliographic information

  • DOI
  • Copyright Information Springer Nature Singapore Pte Ltd. 2019
  • Publisher Name Springer, Singapore
  • eBook Packages Medicine
  • Print ISBN 978-981-13-7145-5
  • Online ISBN 978-981-13-7146-2
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals