Choroidal Coloboma in a Case of Tay-Sachs Disease

Choroidal Coloboma in a Case of Tay-Sachs Disease

Coloboma as an ocular finding has been documented in various syndromes. Here we have a case of infantile Tay-Sachs disease associated with unilateral choroidal coloboma. To the best of our knowledge, such an association has not been documented in the literature. Whether such an association is a matter of chance or signifies the involvement of ganglioside metabolism in ocular embryogenesis remai...

Tay-Sachs disease: a centenary.

Tay-Sachs Disease

In 1881 British ophthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a one-year-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system [4] as manifested in the child?s physical and mental retardation [5]. This cherry-red spot is a characteristic that would eventually come to be associated with...

Late-onset Tay-Sachs disease.

We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of the arms. MR scan of the brain showed isolated cerebellar atrophy and formal neuropsychometric testing identified significant subclinical defici...

Tay-Sachs Disease in Two Iranian Identical Male Twins; A Case Report

Background Tay-Sachs disease is an autosomal-recessive lysosomal storage metabolic disorder. The typical symptoms of the disease include ataxia, muscle weakness, and mental disorders. The severity of the clinical symptom relies on the enzymatic activity of residual Hexosaminidase-A. Case Presentation</...