Genetic Diseases of the Eye

Genetic Diseases of the Eye
  • 2nd Ed.
  • 2012
  • © Oxford University Press, Inc.
  • Elias I. Traboulsi MD
  • ISBN-10: 0-19-532614-8 / ISBN-13: 978-0-19-532614-7
  • Ophthalmology, Genetics


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This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic resource on genetic diseases of the eye. This richly illustrated title covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. The new edition remains grounded in a sound clinical approach to the patient with a genetic disease that affects the eye.


This title reviews the spectrum of ophthalmic manifestations of genetic disease, covering malformations, anterior and posterior segment disorders, eye movement abnormalities, and systemic associations. There is also a section on cancer genetics. The portion on retinal and optic nerve disease is exceptionally comprehensive, providing a review of clinical syndromes with a discussion of separate causative genes, clinical diagnosis including electrophysiology, and outstanding photography. Fundus photos, intravenous fluorescein angiography, ocular coherence tomography, electrophysiology testing, and molecular diagrams are integrated into the text with extraordinary ease.


  • • Fully searchable with extensive cross-linking, helping you find the content you want quickly and easily. Chapters can be downloaded to PDF.
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  • • View a collection of images and figures, all downloadable into PowerPoint


Doody's Reviews

Score: 87/100
3/5 Stars
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Quotes, Reviews or Testimonials

"Dr. Traboulsi manages to flawlessly integrate the expanding knowledge of individual genes and their molecular functions with the evolving understanding of the clinical syndromes to which they are linked."

-- Jordana Smith, MD (Children's Memorial Hospital) - Doody's Review



Edited by an authority on ocular genetics, this book is targeted at ophthalmic physicians for whom genetic basis of disease is a particular interest. It also serves as a resource for residents and fellows.


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