Editors: Alex V. Levin, MD; Mario Zanolli, MD; and Jenina E. Capasso, MSc
Publisher: Thieme – 296 pages
Book Review by: Nano Khilnani

Genetic eye disease is one of the leading causes of blindness around the world, and genetic factors influence ocular infection, inflammation, wound healing and eye disorders such as premature retinopathy or other conditions.

For this reason, every ophthalmologist and optometrist needs to acquire some knowledge in the area of ocular genetics, write the editors – Drs. Alex Levin and Mario Zanolli, and Jenina Capasso in the Preface. This book has been developed to fill the knowledge gap about genetic influences on conditions, diseases, and disorders of the eye.

This handbook serves as a ready reference that conveniently fits into the coat pockets of eye professionals, and can be consulted while on the rounds attending to patients. The index on the back of this handy guide contains an alphabetic list of topics, from albinism to the Usher Syndrome.

The editors are part of a group of 13 specialists in ophthalmology from five countries – Chile, India, Philippines, Taiwan, and the United States – who authored the 33 chapters of this handbook on a wide range of ocular disorders affecting adults and children. We list the chapter titles below to provide you an overview of the coverage of this work:

  1. Basic Genetics
  2. Inheritance Patterns
  3. Genetic Testing
  4. Ethical Issues
  5. Corneal Dystrophies
  6. Aniridia
  7. Peters Anomaly
  8. Axenfeld-Rieger Syndrome
  9. Primary Congenital Glaucoma and Juvenile Open Angle Glaucoma
  10. Childhood Cataract
  11. Microphthalmia
  12. Martian Syndrome and Other Causes of Ectopia Lentis
  13. Familial Exudative Vitreoretinopathy
  14. Stickler Syndrome
  15. VCAN Vitreoretinopathies
  16. Incontinentia Pigmenti
  17. Retinitis Pigmentosa
  18. Usher Syndrome
  19. Bardet-Biedl Syndrome
  20. Cone-Rod Dystrophy
  21. Choroideremia
  22. Enhanced S-Cone Syndrome and Other NR2ER-Related Retinal Dystrophies
  23. Stargardt Disease and Other ABCA4 Retinipathies
  24. Best Vitelliform Macular Dystrophy (Best Disease)
  25. Leber Congenital Amaurosis
  26. Achromatopsia
  27. Congenital Stationary Light Blindness
  28. Juvenile X-Linked Retinochisis
  29. Retinoblastoma
  30. Optic Nerve Hypoplasia
  31. Leber Hereditary Optic Neuropathy
  32. Complex Ocular Disorders
  33. Albinism

Among the benefits of owning this guide is easy access to information such as:

  • Fundamentals, including basic genetics, ethical issues, genetic testing, and inheritance patterns
  • A broad spectrum of vitreoretinapathies and retinal diseases including achromatopsia, Bardet-Biedl syndrome, choroideremia, and juvenile X-linked retinoschisis
  • Anterior segment disorders from aniridia to childhood cataract to corneal dystrophies
  • Patient-centered genetic counseling issues such as dealing with emotional reactions, prognosis, future options, and reproduction

This is a neat handbook for ophthalmologists and other eye professionals!



Alex V. Levin, MD, MHSc, FRCSC is Chief of, and the Robert D. Harley, MD Endowed Chair in Pediatric Ophthalmology and Ocular Genetics at Wills Eye Hospital in Philadelphia, Pennsylvania.

Mario Zanolli, MD is a member of the Faculitad de Medicina Clinica Alemana de Santiago, Universidad del Desarollo, Santiago, Chile. He is a Former Fellow in Ocular Genetics at Wills Eye Hospital in Philadelphia, Pennsylvania.

Jenina E. Capasso, MS, LCGC is a Licensed Certified Genetic Counselor at Wills Eye Hospital in Philadelphia, Pennsylvania.