© 2019

Genetics of Eye Diseases

An Overview

  • Encompasses the entire spectrum of eye diseases

  • Describes basic principles involved as well as recent advances in the field

  • Includes boxes and tables for summarizing key features discussed under each topic

  • Contains a glossary of genetics terminology for non-specialists


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

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

About the authors

Dr Chitra Kannabiran is a scientist pursuing basic research on the molecular genetics of eye diseases, and working at L.V. Prasad Eye Institute (LVPEI), Hyderabad.  She holds a doctorate from the Indian Institute of Science, Bengaluru (1990), and was a post-doctoral fellow at Cold Spring Harbor Laboratory, New York and at the University of Medicine and Dentistry, New Jersey. Having also served as a visiting fellow at the National Eye Institute, NIH, she is a founding member of the molecular genetics laboratory at the LVPEI.

Dr Kannabiran’s expertise spans the fields of immunochemistry, molecular biology and molecular genetics.  Her main research interest is in the molecular genetics of various eye diseases including corneal dystrophies, congenital cataracts and retinal degenerations, with a view to identifying disease-associated genes and their pathogenic mechanisms. This work has led to the identification of novel genes associated with some of these diseases in Indian families.

Bibliographic information

  • Book Title Genetics of Eye Diseases
  • Book Subtitle An Overview
  • Authors Chitra Kannabiran
  • DOI
  • Copyright Information Springer Nature Singapore Pte Ltd. 2019
  • Publisher Name Springer, Singapore
  • eBook Packages Medicine Medicine (R0)
  • Hardcover ISBN 978-981-13-7145-5
  • Softcover ISBN 978-981-13-7148-6
  • eBook ISBN 978-981-13-7146-2
  • Edition Number 1
  • Number of Pages XI, 172
  • Number of Illustrations 0 b/w illustrations, 3 illustrations in colour
  • Topics Ophthalmology
    Human Genetics
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals


“The book is aimed at a very specialized audience. Geneticists and ophthalmologists can use it as a reference. Ophthalmologists in training would find this book useful when reviewing specific disorders. … this book presents more specific molecular information on the eye diseases it covers.” (Luis F Escobar, Doody's Book Reviews, 27 September, 2019)