Hereditary Genetics: Current Research

Department of Pediatric Ophthalmology, Centre Hospitalier Universitaire Ste-Justine, Montreal (QC), H3T 1C5, Canada

Biography

Dr. Luis Humberto OSPINA, MD is a physician specializing in ophthalmology. He practices in the Montreal area. His clinic is located in, Montreal, Quebec. His current research is concerned with Optic neuropathy, Mitochondrial disease, Visual loss, Ophthalmology and Genetics.

Publications

• Research   
  Leber Hereditary Optic Neuropathy: Visual Prognosis and Systemic Associations in Eastern Canada
  Author(s): Guillaume Chabot*, Jacinthe Rouleau, Ahmed Zaki Anwar El-Haffaf and Luis Hum Berto Ospina
  
  Leber hereditary optic neuropathy (LHON) is a mitochondrial disease which presents as a bilateral, sequential and painless central loss of vision. Around 90% of the cases are caused by 3 mutations: m.11778G>A (MT-ND4) (52-92% of cases), m.14484T>C (MT-ND6) (3-19% of cases) and m.3460G>A (MT-ND1) (1-33% of cases). Visual recovery is influenced by the mutation type involved. LHON can also be associated with cardiac and neurological manifestations. M.14484T>C (MT-ND6) is found only in 15% to 25% of cases worldwide but is responsible for 86% of all cases of LHON in French Canadian descendants. The goal of this retrospective study is to describe clinical ophthalmic and systemic manifestations, as well as the visual prognosis of LHON patients from Eastern Canada. Patient’s files were reviewed in two Montreal hospitals. We have found 23 patient&r.. View more»
  

  Abstract PDF