SUMMARY
Menkes disease is a X-linked recessive progressive neurodegenerative disorder; a mutation in the Menkes (MNK) gene causes the disease by altering copper transport from the cytosol to the organelles. Failure to thrive, seizures and peculiar hair appear early in life; visual function deteriorates despite a practically normal eye exam. The patients rarely survive beyond three years of age without treatment. We studied th e ocular manifestations in three patients with Menkes Syndrome and add aberrant lashes and an terior stromal hypoplasia of the iris as new physical findings. Being aware of this disorder, ophthalmologists would be helpful in the early diagnosis of Menkes Syndrome and its treatment.
Key words:
Menkes Syndrome; Íris; Optic nerve