Hypotrichosis with juvenile macular dystrophy (HJMD): Electrophysiological assessment of visual function

Abstract

Abstract: : Purpose: To define the functional integrity of the visual system, and the characteristics of electrophysiological measurements in patients suffering from hypotrichosis with juvenile macular dystrophy (HJMD). Methods: Nineteen patients from 8 families participated in this study. The patients were interviewed for clinical visual symptoms and family history, and underwent genetic analysis. Electrophysiological tests included electroretinogram (ERG), visual evoked cortical responses (VER) and electro–oculogram (EOG). All patients signed an informed consent form. Results: Fundus examination revealed different degrees of abnormalities in the posterior pole of all patients. These could be of hypopigmentation or hyperpigmentation type. The ERG responses were moderately reduced in all patients in the dark– and light–adapted state. There was no correlation between the severity of abnormalities in the fundus examination and the deterioration in the ERG responses. The visual evoked responses that were elicited by flash stimuli were within the normal range. The responses that were elicited by pattern reversal stimuli were subnormal and considerably delayed. The VER findings were generally worse than expected from visual acuity. The EOG was within normal range. In few patients, follow–up examination did not show deterioration within 5 years. Conclusions: Although the fundus picture pointed to macular disorder, the ERG responses indicated more diffuse pattern of retinal malfunction that involved similarly rod– and cone–mediated vision. The abnormal VER was consistent with subnormal macular function. Follow–up measurements in few patients indicate that the retinal disorder is stationary or very slowly progressing.

Keywords: degenerations/dystrophies • electrophysiology: clinical • retinal development