title: Electrophysiology and colour perimetry in dominant infantile optic atrophy.
abstract: A typical finding in dominant infantile optic atrophy (DIOA) is the variation of the phenotypic expression of the DIOA gene even within one family. It is of special interest for genetic consultation to evaluate an examination method for detecting subclinically involved patients. Seven patients of two families were examined. Three of them had the typical symptoms of DIOA: reduced visual acuity, tritan defect, temporal pallor of both optic discs, and a relative central scotoma for white test spots. In visual evoked cortical potentials (VECP) the amplitudes were reduced, and in one patient the latencies were slightly delayed and two patients considerably so. The amplitude of the negative component of the PERG was markedly reduced, while the positive component was normal. In the remaining four family members normal retinal and cortical responses were recorded under standard conditions and visual fields and colour vision (FM 100 hue) were also normal. However, static perimetry with blue test spots showed in two family members enlarged central scotomas, thus proving that they had subclinical DIOA.
authors.affiliation: Max-Planck Institute for Clinical and Physiological Research, Bad Nauheim, Federal Republic of Germany.
authors.forename: T A
authors.initials: TA
authors.lastname: Berninger
authors.forename: W
authors.initials: W
authors.lastname: Jaeger
authors.forename: H
authors.initials: H
authors.lastname: Krastel
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D003118:Color Perception / Q000502:physiology; D003117:Color Vision Defects / Q000175:diagnosis; D004596:Electroretinography; D005074:Evoked Potentials, Visual / Q000502:physiology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D015418:Optic Atrophies, Hereditary / Q000235:genetics / Q000503:physiopathology*; D012607:Scotoma / Q000175:diagnosis; D014792:Visual Acuity; D058609:Visual Field Tests / Q000379:methods; D014794:Visual Fields