Differentiating Leber Hereditary Optic Neuropathy from Normal-Tension Glaucoma.

Area of Science:

• Ophthalmology
• Neuro-ophthalmology
• Neurodegenerative Diseases

Background:

• Glaucoma is a neurodegenerative optic neuropathy often associated with elevated intraocular pressure (IOP).
• Normal tension glaucoma (NTG) presents with glaucomatous optic nerve damage despite normal IOP.
• Enlarged cup-to-disc ratio (CDR) is a hallmark sign of glaucoma but can occur in other optic neuropathies.

Observation:

• This report details a case of Leber hereditary optic neuropathy (LHON) presenting with an enlarged CDR.
• The patient's presentation mimicked signs typically associated with glaucoma.

Findings:

• LHON, a mitochondrial disorder, can cause optic nerve damage and increased CDR, mimicking glaucoma.
• Differential diagnosis between LHON and NTG is challenging due to overlapping clinical signs.

Implications:

• Accurate differentiation between LHON and NTG is essential for correct diagnosis and patient management.
• Increased CDR in the absence of typical glaucoma risk factors warrants investigation for alternative optic neuropathies.
• This case highlights the importance of considering non-glaucomatous causes for optic nerve abnormalities.