title: A family with sex linked optic atrophy : Ophthalmological and neurological aspects.
abstract: A large family in which 8 males are affected with apparently sex linked optic atrophy is described. The disease has been present since early childhood, and the visual acuity ranges between 1/60 and 0.4. The fundi are very typical: pale optic discs, frequently with cupping and an abnormal vascularity. In all cases visual fields are normal on the periphery with somewhat enlarged blind spots or paracentral scotomata in the older patients.All patients were investigated electro-ophthalmologically. The clearly abnormal VECPs and the very probably normal ERG in the youngest patient indicate that the disturbance in the conductive system is prior to that of the retina. Fluorescence angiography revealed the typical appearance of optic atrophy.In addition to the typical findings of the optic atrophy also neurological abnormalities varying between very mild to more severe were observed in the patients. Neurological examination revealed definitely abnormalities but classification was not possible. Symptoms of Huntington's Chorea were not found.Ophthalmological, electro-ophthalmolocigal, fluorescein-angiographic and neurological studies in the female carriers did not reveal any abnormalities.An analysis of all other types of optic atrophy described hitherto in the literature did not reveal comparable cases to the ones seen in our family.
authors.affiliation: Department of Ophthalmology, Leyden University, Leyden, The Netherlands.
authors.forename: H J
authors.initials: HJ
authors.lastname: Völker-Dieben
authors.affiliation: Eye Hospital, Erasmus University, Rotterdam, The Netherlands.
authors.forename: G H
authors.initials: GH
authors.lastname: Van Lith
authors.affiliation: Department of Human Genetics, University, University, Leyden, The Netherlands.
authors.forename: L N
authors.initials: LN
authors.lastname: Went
authors.affiliation: Department of Neurology, Erasmus University, Rotterdam, The Netherlands.
authors.forename: J W
authors.initials: JW
authors.lastname: Klawer
authors.affiliation: Department of Neurology, Erasmus University, Rotterdam, The Netherlands.
authors.forename: A
authors.initials: A
authors.lastname: Staal
authors.affiliation: Department of Human Genetics, University, University, Leyden, The Netherlands.
authors.forename: E C
authors.initials: EC
authors.lastname: De Vries-De Mol