The third edition of this reference text, edited by Elias Traboulsi, is updated and brilliantly comprehensive, with chapters authored by more than 100 leading ophthalmic geneticists from across the world.
The book’s aim is to give a comprehensive, accurate and detailed description of genetic eye disease, covering conditions affecting all structures of the eye including complex eye malformations, retinal dystrophies, congenital cataract, congenital glaucoma and syndromic disease, such as ciliopathies.
While chapters provide a high level of detail on all known conditions to satisfy an ophthalmic geneticist, they also provide overviews and reference information that all eyecare practitioners would find useful when caring for these patients.
Helpfully, the first few chapters are dedicated to epidemiology, embryology, genetic counselling, family trees, genetic testing and breaking bad news. A hugely useful visual rehabilitation chapter provides practical and relevant information to help eyecare practitioners assess a patient, plus tips and tools to enhance remaining vision. It also provides a useful reminder of Charles Bonnet syndrome. For patients with advanced visual impairment, between 11 and 40% will experience visual hallucinations, which should be specifically asked about to reassure patients and provide support.
I was fortunate to co-author one of the chapters with editor Professor Elias Traboulsi, Cleveland Clinic Cole Eye Institute, on cone dysfunction syndromes, cone dystrophies and cone rod degenerations. This covered conditions including stationary achromatopsia and progressive cone and cone-rod dystrophies, with ABCA4-related disease (also known as Stargardt disease) being the most well-known.
