Hypotrichosis with Juvenile Macular Dystrophy: Clinical and Electrophysiological Assessment of Visual Function
Presented at: Association for Research in Vision and Ophthalmology meeting, May, 2004; Ft. Lauderdale, Florida, and International Society for Clinical Electrophysiology of Vision meeting, November, 2004; Dorado, Puerto Rico.
Received 17 February 2005; accepted 31 October 2005.
Purpose
To evaluate retinal function in subjects suffering from hypotrichosis with juvenile macular dystrophy (HJMD).
Design
Retrospective case–control study.
Participants
Sixteen HJMD patients belonging to 2 genetic groups and 20 control subjects.
Methods
The HJMD patients underwent clinical ophthalmological examination and electrophysiological testing for a period of as many as 14 years. The electroretinogram (ERG), electro-oculogram (EOG), and visual evoked potential (VEP) were recorded serially to assess visual function and to follow possible progression of the disease.
Main Outcome Measures
Amplitudes and implicit times of ERG and VEP, and Arden ratio of EOG.
Results
Fundus examination revealed pigmentary abnormalities with atrophic changes at the posterior pole extending to regions beyond the macular area. A slow and time-dependent decline in visual acuity was noted. The ERG responses were subnormal in amplitude. The ERG deficit was similar for light- and dark-adapted responses. There was a gradual but consistent decrease in the ERGs with time. The EOG measurements were within the normal range. Pattern reversal VEPs were very subnormal, even in patients with mild deterioration of visual acuity. The flash VEPs were of slightly subnormal amplitudes and implicit times in the upper limit of the normal range.
Conclusions
The fundus pictures and electrophysiological tests were consistent with retinal involvement extending beyond the macular region. Follow-up of visual acuity and ERG testing indicated a slowly progressing retinal disorder affecting cone-mediated vision as well as rod-mediated vision. Therefore, we suggest that a more appropriate name for this syndrome is hypotrichosis with cone–rod dystrophy.
1Department of Ophthalmology, Rambam Medical Center, Haifa, Israel
2Department of Dermatology, Rambam Medical Center, Haifa, Israel
3Ruth & Bruce Rappaport Faculty of Medicine, Technion and the Rappaport Institute, Haifa, Israel
Correspondence to Ido Perlman, PhD, Ruth & Bruce Rappaport Faculty of Medicine, Technion–Israel Institute of Technology, P.O. Box 9649, Haifa, 31096 Israel
Manuscript no. 2005-152.
Supported by the Technion V.P.R. Foundation (Haifa, Israel)—The Louis Greenberg and Magda Davis Research Fund for the Study of Macular Degeneration.
ABSTRACT