[Hereditary macular dystrophies].

PURPOSE

Analysis of a consecutive series of patients suffering from hereditary macular dystrophies.

PATIENTS AND METHODS

Between 1991 and 1997, 136 patients underwent clinical and electrophysiologic examinations (Ganzfeld ERG, EOG or multifocal ERG).

RESULTS

The time of first examination was similar to the onset of clinical signs in most patients. In half of the patients onset was not before 40 years of age. In younger patients, Stargardt disease, X-linked retinoschisis and Best disease were the most frequent disorders. In patients aged 40 year and older, pattern dystrophies and central areolar choroidal dystrophy were more frequent. In 41 cases (30.2%) a specific diagnosis could not be made. Color vision and multifocal ERG were abnormal in all patients examined. Ganzfeld ERG was important for the diagnosis of X-linked retinoschisis, as was the EOG for Best disease.

CONCLUSIONS

Hereditary macular dystrophies are a heterogeneous group of disorders. In several cases a definite diagnosis could not be made. Pattern dystrophies are the most frequent hereditary macular dystrophies in patients older than 40 years of age.