Describes a gene and all its possible clinical phenotypes and patient characteristics, along with retinal photos depicting each possible phenotype
Written by prominent retinal dystrophy specialists from the largest dystrophy centers worldwide
Contains more than 80 chapters, each of which describes the clinical and photographic manifestations of a specific gene
Includes stunning clinical color photographs of the retina, autofluorescence imaging, and electrophysiologic findings and cross-sectional imaging
Serves as a resource to aid genetic diagnosis in patients with retinal dystrophies by retina specialists and pediatric ophthalmologists in the United States, as well as hundreds of fellows and residents that enter the workforce each year
Classically, photo atlases of retinal dystrophies have been divided into sections that describe and depict a particular retinal finding or disease, after which a differential diagnosis of potential diseases or mutated genes is provided. However, given the rapid improvement in molecular diagnostics, and the exponential increase in our understanding of the phenotypes caused by each mutated gene, the paradigm has changed. Physicians are now more interested in the variable expressivity associated with mutations in each individual gene. Therefore, Retinal Dystrophy Gene Atlas catalogs the different phenotypes that have been reported with each mutated gene. Each section describes a gene and its known clinical phenotypes and features of disease, along with retinal photos of affected patients. Written by prominent retinal dystrophy specialists from the largest dystrophy centers worldwide, Retinal Dystrophy Gene Atlas contains more than 80 chapters, each of which describes the clinical and photographic manifestations of a specific gene. The chapters include stunning clinical color photographs of the retina, autofluorescence imaging, electrophysiologic findings, and cross-sectional imaging. Retinal Dystrophy Gene Atlas serves as a resource to aid genetic diagnosis in patients with retinal dystrophies.
Authors and Affiliations
Kellogg Eye Center, University of Michigan, Ann Arbor, USA
Sarwar Zahid,
Kari Branham,
Dana Schlegel,
John Heckenlively,
Thiran Jayasundera
Casey Eye Institute, Oregon Health & Science University, Portland, USA
Mark E. Pennesi
Institute of Ophthalmology, Moorfields Eye Hospital UCL, London, United Kingdom
Michel Michaelides
About the authors
Sarwar Zahid, MS, MD University of Michigan Kellogg Eye Center Ann Arbor, MI, USA
Kari Branham, MS, CGC University of Michigan Kellogg Eye Center Ann Arbor, MI, USA
Dana Schlegel, MS, MPH, CGC University of Michigan Kellogg Eye Center Ann Arbor, MI, USA
Mark Pennesi, PhD, MD Casey Eye Institute Portland, OR, USA
Michel Michaelides, MB, MD Moorfields Eye Hospital London, United Kingdom
John Heckenlively, MD University of Michigan Kellogg Eye Center Ann Arbor, MI, USA
Thiran Jayasundera, MD University of Michigan Kellogg Eye Center Ann Arbor, MI, USA
Bibliographic Information
Book Title: Retinal Dystrophy Gene Atlas
Authors: Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively, Thiran Jayasundera
