title: Does sporadic Leber's disease exist?
abstract: This study gives some illustrative case reports of the difficulties in the diagnosis of Leber's hereditary optic neuroretinopathy. It underlies the importance of careful family history and search for peripapillary microangiopathy in the maternal relatives of patients suspected to suffer from Leber's disease. The article casts doubt on the existence of so-called sporadic Leber's disease.
authors.affiliation: Department of Ophthalmology, University of Turku, Finland.
authors.forename: E
authors.initials: E
authors.lastname: Nikoskelainen
authors.forename: K
authors.initials: K
authors.lastname: Nummelin
authors.forename: M L
authors.initials: ML
authors.lastname: Savontaus
mesh_terms: D000328:Adult; D005260:Female; D005451:Fluorescein Angiography; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008487:Medical History Taking; D008875:Middle Aged; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics