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Chapter-15 Advances in Management of Ocular Genetic Disorders

BOOK TITLE: Recent Advances in Ophthalmology—9

Author
1. Singh Kuldeep
ISBN
9788184489613
DOI
10.5005/jp/books/11149_15
Edition
1/e
Publishing Year
2010
Pages
24
Author Affiliations
1. Dr Kuldeep’s Ultrasound and Color Doppler Clinic, 266, Prakash Mohalla, East of Kailash, New Delhi (India), singhdrkuldeep@rediffmail.com, Pt Bhagwat Dayal Sharma Postgraduate, Institute of Medical Sciences, Rohtak, Haryana, India, Indraprastha Apollo Hospitals, New Delhi, India, New Delhi, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India, New Delhi, India, Dr Kuldeep’s Ultrasound and Color Doppler Clinic, D 80, East of Kailash, New Delhi 110065, India, Dr Kuldeep’s Ultrasound and Color Doppler Clinic, 266, Prakash Mohalla, East of Kailash, New Delhi 110065, India, Sri Aurobindo Institute of Medical Sciences, Indore, Dr Kuldeep’s Ultrasound and Color Doppler Clinic, 266, Prakash Mohalla, East of Kailash, New Delhi, Dr Kuldeep’s Ultrasound and Color Doppler Clinic, D 80, East of Kailash, New Delhi, India, singhdrkuldeep@rediffmail.com, The Ultrasound Lab, New Delhi, India, Dr Kuldeep’s Ultrasound and Color Doppler Clinic, D-115, East of Kailash, New Delhi, India, Ultrasound and Co
Chapter keywords

Abstract

The field of ophthalmic genetics is rapidly growing with scientific breakthroughs and technological advances. With this growth has come an increased understanding of the pathophysiology of ophthalmic disease processes, insight into current and future diagnostic and therapeutic options, and ultimately a deeper understanding of inherited ocular disorders. As a result of information explosion and access to a vast amount of available genetic data and new tools that facilitate novel and efficient approaches to study the genetic contribution to heritable diseases, the approach to genetic research has experienced a shift from single investigator–initiated projects to investigations requiring collaborative multidisciplinary teams of health care professionals, molecular biologists, epidemiologists, biostatisticians, and other scientists who merge their basic science and clinical and statistical expertise to translate basic science into clinical and population based domains. Major gains have been made in unraveling the useful genetic information on age-related macular degeneration and pseudoexfoliative glaucoma. Perhaps, twin studies will throw light on genetic mechanisms underlying visual impairment in age-related conditions and environmental factors. However, we are faced with a relatively poor understanding of the genetic etiology for many major heritable blinding diseases, such as primary open-angle glaucoma, keratoconus and myopia.

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