Atlas of Inherited Retinal Diseases

Stephen H. Tsang MD, PhD has been culturing embryonic stem (ES) cells since 1992 and in 1995 created the first mouse model for a recessive form of retinitis pigmentosa (RP) by applying homologous recombination to ES cell technology. Since 1996, the Dr. Tsang has been quantifying retinal function and structure in gene-targeted mutant mice. As the director an international referral center for inherited retinal degenerations, Dr. Tsang cares for a specific subgroup of patients that are most appropriately aligned with precision medicine. At times, patients suffer from a disorder that is related to an existing transgenic mouse model generated in the laboratory, and other times patients inspire new models. . Dr. Tsang's contributions to genetics has being recognized by the 2005 "Bernard Becker-Association of University Professor in Ophthalmology"-"Research to Prevent Blindness" Award, Carl Camras Award, and the 2013 Bradley Straatsma Lectureship. Dr. Tsang received 2008 resident teaching award. He is also a standing member of the "DPVS" study section at NIH, American Society for Clinical Investigation, American Ophthalmological Society and Macular Society. Tarun Sharma For over three decades, Tarun Sharma was associated with a tertiary eye care institute - SANKARA NETHRALAYA - Chennai, India. He was the director of vitreoretinal services and professor of ophthalmology for over a decade. For his distinguished contribution to the field of ophthalmology, he was awarded thrice by the American Academy of Ophthalmology: Achievement Award (2007), International Ophthalmologist Education Award (2009), and the International Scholar Award (2011). In 2017, he joined the Edward S. Harkness Institute, the Columbia University Medical Center, NY, and currently working as a gene therapist at Jonas Children's Vision Care.

Section I: Basic Knowledge. Retinal Histology and Anatomical Landmarks.- Fluorescein Angiography.- Optical Coherence Tomography.- Fundus Autofluorescence.- Electroretinography.- Electrooculography.- Glossary of Relevant Genetic and Molecular/Cell Biology.- Section II: X-linked Forms.- X-Linked Retinitis Pigmentosa.- X-Linked Choroideremia.- X-Linked Juvenile Retinoschisis.- X-Linked Ocular Albinism.- Progressive Cone Dystrophy and Cone-Rod Dystrophy.- Congenital Stationary Night Blindness.- Blue Cone Monochromatism.- Section III: Autosomal Dominant Forms.- Autosomal Dominant Retinitis Pigmentosa.- Best Vitelliform Macular Dystrophy.- Pattern Dystrophy.- Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen).- Occult Macular Dystrophy.- Sorsby Pseudoinflammatory Fundus Dystrophy.- North Carolina Macular Dystrophy.- Pigmented ParavenousChorioretinal Atrophy (PPCRA).- Late-Onset Retinal Degeneration.- Section IV: Autosomal Recessive Form.- Rod Monochromatism (Achromatopsia).- Retinitis Pigmentosa (Non-syndromic).- Leber Congenital Amaurosis.- Stargardt Disease.- Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome).- Best Vitelliform Macular Dystrophy.- Section V: Systemic Disorders.- Mitochondrial Disorder: Kearns-Sayre Syndrome.- Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness.- Ciliopathy: Usher Syndrome.- Ciliopathy: Bardet-Biedl Syndrome.- Ciliopathy: Senior-Løken Syndrome.- Ciliopathy: Alström Syndrome.- Ciliopathy: Sjögren-Larsson Syndrome.- Inborn Errors of Metabolism: Gyrate Atrophy.- Inborn Errors of Metabolism: Pseudoxanthoma Elasticum.- Inborn Errors of Metabolism: Refsum Disease.- Inborn Errors of Metabolism: Bietti Crystalline Dystrophy.- Extracellular Matrix: Alport Syndrome.- Section VI: Phakomatoses.- Von Hippel-Lindau Disease.- Tuberous Sclerosis.- Neurofibromatosis.- Section VII: Phenocopies.- Rubella Retinopathy.- Syphilis.- Autoimmune Retinopathy.- Drug-Induced Retinal Toxicity.- Acute Zonal Occult Outer Retinopathy (AZOOR) and Related Diseases.- Diffuse Unilateral Subacute Neuroretinitis (DUSN).- Section VIII: Managing IRDs in Clinics.- A Practical Approach to Retinal Dystrophies.- Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding.