title: Light and electron microscopic retinal findings in Leigh's disease.
abstract: Funduscopic and retinal light- and electron-microscopic findings are described in an infant with progressive neurologic deterioration leading to death. Brain autopsy findings were consistent with Leigh's disease. The retinal mitochondria showed marked degenerative changes, the cristae were almost completely destroyed and electron-dense material filled a major part of the cavity. These changes are typically described in the late stages of mitochondrial diseases but have not been described before in retinal mitochondria in a patient with Leigh's disease.
authors.affiliation: Department of Ophthalmology, Beilinson Medical Center, Petah Tiqva, Israel.
authors.forename: I
authors.initials: I
authors.lastname: Kremer
authors.forename: T
authors.initials: T
authors.lastname: Lerman-Sagie
authors.forename: M
authors.initials: M
authors.lastname: Mukamel
authors.forename: J
authors.initials: J
authors.lastname: Sandbank
authors.forename: I
authors.initials: I
authors.lastname: Nissenkorn
authors.forename: M
authors.initials: M
authors.lastname: Mimouni
mesh_terms: D001344:Autopsy; D001921:Brain / Q000473:pathology / Q000648:ultrastructure; D001928:Brain Diseases, Metabolic / Q000473:pathology*; D005123:Eye / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000473:pathology*; D008297:Male; D008928:Mitochondria / Q000473:pathology / Q000648:ultrastructure; D009887:Ophthalmoscopy; D012164:Retinal Diseases / Q000473:pathology*