References AA Sadun, CF Chicani, FN Ross-Cisneros, p Barboni, M Thoolen, WD Shrader, V Kheifets, A Barnes, K Kubis, V Carelli, and G Miller. EPI-743 Alters the Clinical Course of the Mitochondrial Disease Leber's Hereditary Optic Neuropathy. In Submission. VC Sheffield, EM Stone. 2011. Genomics and the Eye. N ENGL J MED 364(20): 1932-1942.
Special Acknowledgment Jeremy Whitney Acknowledgments Sanjeev Nath, MD Alfredo Sadun, MD, PhD Guy Miller MD, PhD Carlos Chicani MD, PhD Krishna Morar O.D
Jerome Sherman, OD, FAAO Jerome Sherman, O.D., is perhaps optometry's most prolific writer, publishing over 650 clinical articles, research manuscripts, book chapters and two CDs. He is senior author of three books that were published in 2007, and has delivered over three thousand lectures both nationally and internationally. He has served as a contributing
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Comments and Conclusions The eye has figured prominently in the development of genetic and genomic approaches to human disease.2 In 1988, Leber's hereditary optic neuropathy was the first human disease shown to be caused by a mutation of mitochondrial DNA.3 In case 2 of this presentation, the natural history of vision loss in LHON
Case 3: Fluorescein Angiography Images OS Case 3: An exemplary fundus fluorescein angiography in another patient with LHON reveals multiple vascular dilations but no leakage. Although the disc looks "hot" in LHON, it does not leak as it does in papillitis, papilledema and anterior ischemic optic neuropathy.
Case 2: 30-2 Visual Fields OU The field loss is far more dramatic in the right eye during this period. About 1 year later, the field was profoundly reduced and equal in each eye.
Case 2: 30-2 Visual Fields OS A central-cecal scotoma is documented in the left eye on the August 2007 visit.
Case 2: 30-2 Visual Fields OD By April 2007, there is an obvious central scotoma in the right eye. Most of the visual field is lost over the next 5 months as revealed by the August 2007 field.
Case 2: Topcon Color Fundus and ARIS Images OD The image on the left was obtained with a prototype of the ARIS system and appears to reveal more detail than the traditional color image on the right. The Annidis multi-spectral digital ophthalmoscope takes similar images, is now available in Canada and awaits FDA