Título

TAY-SACHS: AN OPHTHALMOLOGICAL APPROACH

Objetivo

To describe the genetic etiology of the disease and its pathophysiology To identify ophthalmic signs and symptoms, including specific findings such as the "cherry-red spot" retina To describe the retinal changes histologically To identify differential diagnoses

Relato do Caso

A male patient was born with no neonatal complications. The parents are second cousins according to family’s background The patient had normal neuropsychomotor development until 8 months of age when the mother noticed retrogression in developmental steps. It reports that the patient stopped looking and following objects. With the advancement of diffuse hypotonia, the mother sought medical assistance at the reference children's hospital Around 1 year and 6 months of life the patient began to present recurrent seizures that became more frequent and lasting. The patient was admitted to the Walter Cantídio University Hospital for investigation of progressive neurological disease During the physical examination, the patient did not follow objects or fixate the eyes. In the ophthalmoscopy examination, we observed a well-defined, colored optic nerve in both eyes. The retina presented a white-gray pallor delimited in macular region with preservation of the red-brown color in the foveal region, characterizing the cherry-red spot lesion in both eyes The serum hexosaminidase A was 0 nmol / hr, confirming the diagnosis of Tay-Sachs disease

Conclusão

Tay-Sachs disease is a rare genetically inherited neurodegenerative disorder that results in hexosaminidase A lack Signs and symptoms begin around the 5th month of life characterized by progressive psychomotor retardation, megaencephaly, cherry-red spot retinal injury, blindness, deafness, paralysis and death between the 3rd and 5th year of life The histological changes that characterize the background in cherry-red spot are due to the intense accumulation of glycosphingolipid in the macula’s ganglion cells, which leaves a pale-whitish appearance Currently, Tay-Sachs disease treatment is signs and symptoms control and clinical support