ABSTRACT Tay-Sachs Disease is an autosomal recessive neurodegenerative disorder, which involves the metabolism of lipids, leading to the accumulation of gangliosides in the tissues, due to the deficiency of the enzyme Hexosaminidase A. This progressive deposit results in loss of neurological function and, when it affects macula ganglion cells, it causes the typical disease finding, the “cherry red spot”. The pathology is diagnosed through the levels of Hex A and total Hexosaminidase in the serum, in addition to the analysis […]

Abstract Sclerochoroidal calcifications (SC) are a rare and benign ocular condition characterized by yellow-white irregular subretinal lesions usually found in the supero-temporal arcade of the midperipheral fundus in middle-aged elderly men. We present a clinical case of a 79- year-old patient who during a fundus examination presented raised whitish nodules in the supero-temporal arcade in the right eye. After performing optical coherence tomography, ultrasound, ocular computed tomography and laboratory analysis, she was diagnosed with idiopathic sclerochoroidal calcifications The pathogenesis of […]