The retina in Lafora disease: light and electron microscopy

Abstract

Lafora bodies are described in the retina of a 16 year old female who died five years after the onset of a typical familial progressive myoclonus epilepsy which was diagnosed as Lafora disease by brain biopsy and by autopsy findings. The patient was the offspring of consanguinous parents who had three affected siblings out of nine. The fine structure and distribution of Lafora bodies, which represent a specific non-lysosomal cell storage disorder, is reported for the first time in the human retina. The nature of the abnormal material in the Lafora bodies, which are identical to those present in the brain, heart and liver tissues in the same patient and in her brother, is discussed according to their iodide spectrum. In this respect, Lafora disease might be related to the inborn errors of carbohydrate metabolism and its relationship with Type IV Glycogenosis (Anderson's disease) must be verified by further investigations.