The following Conditions are related to Blindness

Select a specific condition below to view its details.

  • Galactocerebrosidase (galc) deficiency

    Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This  Read More

  • Globoid leukodystrophy, krabbe's type

    Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This  Read More

  • Infantile type neuronal ceroid lipofuscinosis

    Infantile type neuronal ceroid lipofuscinosis is a rare genetic disorder that affects the nervous system, causing it to deteriorate. It is caused by a genetic mutation in the CLN3 gene, which encodes for an enzyme called palmitoyl protein thioesterase-1 (PPT1). People with infantile type neuronal ceroid lipofuscinosis have too much lipofuscin in their brains, spinal cords, and other organs at birth or soon after.  Read More