Retinal Dystrophy Gene Atlas 1st ed. 2018 Edition

Master Retinal Dystrophies with This Gene Atlas

This book catalogs the different phenotypes that have been reported with each mutated gene, providing a new paradigm for understanding retinal dystrophies. This resource, written by prominent retinal dystrophy specialists, contains more than 80 chapters, each of which describes the clinical and photographic manifestations of a specific gene.

Key Features

• New Paradigm: It focuses on the variable expressivity associated with mutations in each individual gene, moving away from a traditional disease-centric approach.
• Comprehensive Chapters: Each of the 80+ chapters describes a gene and its known clinical phenotypes and features of disease.
• Stunning Visuals: The chapters include stunning clinical color photographs of the retina, autofluorescence imaging, electrophysiologic findings, and cross-sectional imaging.
• Expert Authorship: It is written by prominent retinal dystrophy specialists from the largest dystrophy centers worldwide.
• Genetic Diagnosis: The book serves as a resource to aid genetic diagnosis in patients with retinal dystrophies.