Unilateral optic nerve aplasia associated with microphthalmos.

Area of Science:

• Ophthalmology
• Developmental Biology
• Medical Imaging

Background:

• Optic nerve aplasia is a rare congenital condition characterized by the absence of the optic nerve, central retinal vessels, and retinal ganglion cells.
• It most frequently affects one eye, leading to significant visual impairment.

Observation:

• A case of unilateral optic nerve aplasia and microphthalmia in a young girl is presented.
• Diagnostic methods included a full ophthalmological examination, A- and B-scan ultrasonography, MRI of the orbit and brain, and neurological assessments.
• The patient exhibited microphthalmia and absence of the optic nerve in the right eye, with normal findings in the left eye and no other developmental abnormalities.

Findings:

• Complete ophthalmological examination revealed unilateral absence of the optic nerve and central retinal vessels.
• B-scan echography confirmed a smaller right globe (axial length 13.80 mm) compared to the left (18.30 mm) and the absence of the right optic nerve.
• MRI demonstrated asymmetry of globe size and unilateral optic nerve absence.

Implications:

• This case underscores the importance of thorough diagnostic evaluation for rare congenital eye anomalies.
• Long-term management focuses on optimizing the aesthetic and functional development of affected individuals.
• Further research into the etiology and management of optic nerve aplasia is warranted.