The EOG in Best's disease and dominant cystoid macular dystrophy (DCMD)

Area of Science:

• Ophthalmology
• Genetics
• Physiology

Background:

• The electro-oculogram (EOG) measures retinal function.
• Best's disease and dominant cystoid macular dystrophy (DCMD) are inherited retinal disorders with distinct pathologies.
• Understanding EOG changes in these diseases can reveal disease mechanisms and progression.

Purpose of the Study:

• To investigate the relationship between age and EOG parameters (Lp/Dt ratio) in normal individuals and patients with Best's disease or DCMD.
• To explore potential correlations between genetic defects and EOG stability or changes over time.

Main Methods:

• Electro-oculogram (EOG) recordings were obtained from 156 normal subjects, 103 with Best's disease, and 52 with DCMD.
• Statistical analyses, including correlation and regression, were used to assess the association between the Lp/Dt ratio and age.
• Group comparisons of Lp/Dt ratio distributions were performed.

Main Results:

• In normal subjects and Best's disease patients, no significant correlation was found between age and the Lp/Dt ratio.
• In DCMD patients, a significant negative correlation between age and Lp/Dt ratio was observed in the total sample and the female subgroup.
• The findings suggest that the gene defect in Best's disease stabilizes EOG, while the DCMD defect may lead to age- and hormone-related EOG changes.

Conclusions:

• The EOG light-sensitive oscillation remains stable throughout life in Best's disease, irrespective of age.
• Age-related decline in EOG function occurs in DCMD, potentially influenced by female hormones affecting capillary permeability.
• EOG analysis provides insights into the distinct pathophysiological mechanisms of Best's disease and DCMD.