Hereditary Genetics: Current Research

Department of Genetics, Centre hospitalier de l'Université de Montréal, Montreal (QC), H2X 3E4, Canada

Biography

Dr Ahmed Zaki Anwar El Haffaf is a geneticist and onco-geneticist as well as director of the oncogenetics clinic of the Center hospitalier de l'Université de Montréal (CHUM) since 2011. With his multiple experiences acquired in Algeria, France and the Canada, Dr. El Haffaf has developed a unique international expertise in genetics that he aspires to share and transmit, in particular through his role as assistant clinical professor at the Faculty of Medicine of the University of Montreal and in the Department of Genetic Medicine at the CHUM. He also wears the hat of investigator at the CHUM Research Center.

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