Twelve subjects with minimal expression of the myotonic dystrophy (MyD) gene were investigated by retinal densitometry, a technique which has been used to study the properties of photopigments in the living eye and to detect photoreceptor abnormalities. Other investigations included slit-lamp examination, funduscopy, raleigh matches with the anomaloscope, tonometry, and neurological examination, including electroretinography (ERG) and pattern visual evoked potentials recording. Foveal densitometry demonstrated reduced values of the macular photopigment density difference with normal photopigment kinetics in early phases of the disease, even in asymptomatic individuals. The densitometric values correlated with decreased amplitudes of the photopic ERG a-wave. These findings may be explained by loss or dysfunction of the outer segments of foveal receptors. It is yet unknown whether or not these changes are secondary to other observed neuroretinal abnormalities in MyD. The most likely explanation might be an abnormality of the Na, Ca:K exchanger at the level of the outer segments of the photoreceptors whether or not in combination with a dysfunction of voltage generation systems, involving both photoreceptors and retinal pigment epithelium.
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