Main description:

Comprehensive yet concise, Ophthalmic Genetic Diseases: A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities, by Dr. Natario L. Couser, provides current, clinically focused information on more than 400 genetic eye diseases. This first-of-its-kind title is a useful resource for busy medical students, residents, or fellows, and is a handy quick reference for practicing ophthalmologists, geneticists, genetic counselors, pediatricians, optometrists, and other healthcare professionals who evaluate and manage patients with genetic eye diseases.

Groups genetic abnormalities by anatomical location most often affected for easy reference.
Synthesizes complex genetic data and research into digestible and practical guidance for understanding the genetic aspects of eye disease.
Presents relevant clinical information in a concise and organized manner to help you make a diagnosis or assist in guiding referrals.
Includes an appendix covering genetic eye disorders by clinical sign.
Consolidates today's available information and guidance into a single, convenient resource.

Contents:

Ophthalmic Genetic Diseases

Dedication, Contributor Bios, Preface

1. Eye Abnormalities in Patients with Chromosome Disorders

2. Eye Genetic Abnormalities of the Anterior Segment, Eyelids and External Ocular Adnexa

3. Eye Genetic Abnormalities with Anophthalmia, Microphthalmia, and Colobomas

4. Craniofacial Syndromes and Conditions

5. Eye Genetic Abnormalities of the Cornea

6. Eye Genetic Abnormalities of the Crystalline Lens

7. Eye Genetic Abnormalities with Glaucoma

8. Eye Genetic Abnormalities of Ocular Motility

9. Eye Genetic Abnormalities of the Optic Nerve and Color Vision

10. Neurocutaneous Syndromes (Phakomatoses)

11. Eye Genetic Abnormalities of the Retina and Choroid

Glossary

Appendix I: Resources

Appendix II: Eye Genetic Disorder by Clinical Sign