Serious Warning Signs Of A Biotinidase Deficiency

Optic Atrophy

Optic atrophy usually occurs in older children who have a biotinidase deficiency. The condition affects the optic nerve and develops when the retinal ganglion cell axons die. These axons form the optic nerve. On examination, patients who have optic atrophy will have a very pale optic nerve, and the vision will be impaired. Patients who have mild atrophy may still have good visual acuity, but they may not be able to distinguish colors. Other symptoms include blurry vision, trouble with peripheral vision, and reduced sharpness of the patient's vision. In the most severe cases, patients may be legally blind, and they may not be able to distinguish light. Optic atrophy is normally diagnosed with a comprehensive vision examination. The doctor will check the patient's eye pressure and assess their color vision, visual acuity, peripheral vision, and the ability to distinguish contrast. A fundoscopy exam will also be completed. Since axons cannot be replaced, early detection of this condition is essential for preserving vision.

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