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

Tarun Sharma, MD, FRCSEd, MBA, FASRS, is an Associate Professor of Ophthalmology at Columbia University Irving Medical Center, which is connected to NewYork-Presbyterian and Harlem Hospital. Prior to joining Columbia in 2017, Dr. Sharma was a professor of ophthalmology, director of vitreoretinal service, and program director of the retina fellowship at Sankara Nethralaya, Chennai, India. The American Academy of Ophthalmology honored him with three awards: the Achievement Award (2007), the International Ophthalmologist Education Award (2009), and the International Scholar Award (2011).

Likewise, the American Society of Retinal Specialists (ASRS) awarded him the designation of "Fellow" (2022) in appreciation of his dedication, expertise, and leadership within the field of medical and surgical retina. Throughout his career, Dr. Sharma has been dedicated to education and training. He mentored over 100 retina fellows who now practice worldwide. He received the John Martin Wheeler Memorial Teaching Award from the Edward S. Harkness Eye Institute, Columbia Ophthalmology, twice (2022 and 2024) for his outstanding dedication and contribution to resident education and ophthalmology.

Vlad Diaconita

Vlad Diaconita is a Romanian-born, Canadian-raised retina specialist who joined Columbia University in 2019. He now holds a faculty position in the Department of Ophthalmology at Columbia University. Dr. Diaconita has a passion for teaching residents and fellows, including on advances on retina surgery. He has research interests in ophthalmic imaging, artificial intelligence applications in medicine as well as medical education. He has been recognized with awards and grants as a medical educator, researcher and has been a panelist and speaker at national and international conferences. He is an active member of the American Academy of Ophthalmology, American Society of Retinal Surgeons, Canadian Ophthalmology Society, Canadian Retina Society, European Retina Society, VitBuckle Society as well as other national and international groups.

Chapter 1 Retinal Histology and Anatomical Landmarks.- Chapter 2 Fluorescein Angiography.- Chapter 3 Optical Coherence Tomography.- Chapter 4 Fundus Autofluorescence.- Chapter 5 ERG.- Chapter 6 Electrooculography.- Chapter 7 Glossary of Relevant Genetic and MolecularCell Biology.- Chapter 8 X-linked Retinitis Pigmentosa.- Chapter 9 X-linked Choroideremia.- Chapter 10 X-linked Juvenile Retinoschisis.- Chapter 11 X-linked Ocular Albinism.- Chapter 12 Progressive Cone Dystrophy and Cone-Rod Dystrophy.- Chapter 13 Congenital Stationary Night Blindness.- Chapter 14 Blue Cone Monochromatism.- Chapter 15 Autosomal Dominant Retinitis Pigmentosa.- Chapter 16 Best Vitelliform Macular Dystrophy.- Chapter 17 Pattern Dystrophy.- Chapter 18 Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen).- Chapter 19 Occult Macular Dystrophy.- Chapter 20 Sorsby Pseudoinflammatory Fundus Dystrophy.- Chapter 21 North Carolina Macular Dystrophy.- Chapter 22 Pigmented Paravenous Chorioretinal Atrophy (PPCRA).- Chapter 23 Late-Onset Retinal Degeneration.- Chapter 24 Achromatopsia (Rod Monochromatism).- Chapter 25 Retinitis Pigmentosa (Non-syndromic).- Chapter 26 Leber Congenital Amaurosis.- Chapter 27 Stargardt Disease.- Chapter 28 Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome).- Chapter 29 Best Vitelliform Macular Dystrophy.- Chapter 30 Mitochondrial Disorder Kearns-Sayre Syndrome.- Chapter 31 MIDD.- Chapter 32 Usher Syndrome.- Chapter 33 Bardet-Biedl Syndrome.- Chapter 34 Senior-Loken Syndrome.- Chapter 35 Alstrom Syndrome. Chapter 36 Sjogren-Larsson Syndrome.- Chapter 37 Inborn Errors of Metabolism Gyrate Atrophy.- Chapter 38 Pseudoxanthoma Elasticum.- Chapter 39 Refsum Disease.- Chapter 40 Bietti.- Chapter 41 Alport Syndrome.- Chapter 42 N - Stickler Syndrome.- Chapter 43 N - OTX2 Syndrome.- Chapter 44 VHL.- Chapter 45 Tuberous Sclerosis.- Chapter 46 Neurofibromatosis.- Chapter 47 Rubella Retinopathy.- Chapter 48 Syphilis.- Chapter 49 AIR.- Chapter 50 Drug-Induced Retinal Toxicity.- Chapter 51 Non-Infectious Uveitis.- Chapter 52 Diffuse Unilateral Subacute Neuroretinitis (DUSN).- Chapter 53 CSCR.- Chapter 54 Pathologic Myopia.- Chapter 55 A Practical Approach to Retinal Dystrophies.- Chapter 56 Genetic Testing For Inherited Retinal Dystrophy.- Chapter 57 Genetic Reports.- Chapter 58 The genetic basis of IRDS and the role of genetic testing.- Chapter 59 Seeing Stars The Gene Therapy Revolution.- Chapter 60 Mutation Specific Treatments for Inherited Retinal Diseases.- Chapter 61 Global Treatment Approaches Part 1 Neuroprotection and Stem Cell Therapy.- Chapter 62 Global Treatment Approaches Part 2 Optogenetics and Retinal Implants.