Clinical heterogeneity of dominant optic atrophy: the contribution of visual function investigations to diagnosis

Abstract

This investigation suggests that combined clinical and functional evaluation is necessary to diagnose DOA. Particularly, the combined use of computerized perimetry, CSF, and VEPs allowed the identification of cases at a subclinical stage.

Dominant optic atrophy: correlation between clinical and molecular genetic studies

“…The peripheral fields to white object were normal. Some affected individuals were also tested by us with coloured objects in Goldmann perimetry and had constricted blue fields, as has also been reported by others (Kjer 1959; Hoyt 1980; Del Porto et al 1994; Votruba et al 1998b). Detection of a relative central, cecocentral or paracentral field defect in mild DOA requires expertise.…”

“…The Octopus macula program proved to be effective in detecting mild central defects that otherwise would have passed as normal. Moreover, Del Porto et al (1994) used Octopus 2000R static perimetry to detect small and mild central sensitivity losses. One of our patients had superotemporal field loss.…”

Hereditary optic neuropathies

“…106,111,117,118 Visual-evoked responses in affected individuals characteristically show diminished amplitudes and prolonged latencies, the latter usually less profound than in demyelinating disease. 111,117,118 Pattern electroretinograms show a reduced N95 component in keeping with primary ganglion cell dysfunction.…”

“…106,111,117,118 Visual-evoked responses in affected individuals characteristically show diminished amplitudes and prolonged latencies, the latter usually less profound than in demyelinating disease. 111,117,118 Pattern electroretinograms show a reduced N95 component in keeping with primary ganglion cell dysfunction. 111 Extreme clinical variability among subjects with DOA suggests that on occasion, combined clinical and functional evaluation, with computerized perimetry, tests of contrast sensitivity, and electrophysiologic testing, may be necessary to diagnose the most subtle cases.…”

“…111 Extreme clinical variability among subjects with DOA suggests that on occasion, combined clinical and functional evaluation, with computerized perimetry, tests of contrast sensitivity, and electrophysiologic testing, may be necessary to diagnose the most subtle cases. 118 Although there are dominantly inherited syndromes of optic atrophy associated with neurologic dysfunction, most of the patients with the syndrome of autosomal dominant optic atrophy have no additional neurologic deficits. Nystagmus in some patients likely reflects early visual deprivation rather than central neurologic involvement.…”