Severe Dry Eye Disease in Charcot-Marie-Tooth Disease: A Comprehensive Case Report

Patient: Female, 20-year-old Final Diagnosis: Charcot-Marie-Tooth 1 Symptoms: Dry eyes Clinical Procedure: — Specialty: Ophthalmology OBJECTIVE: Rare coexistence of disease or pathology BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a hereditary neurological disorder that primarily leads to peripheral neuropathy, characterized by progressive muscle weakness, atrophy, and loss of sensation in the extremities. It can also present with some ocular manifestations, such as glaucoma, nystagmus, and cranial nerve involvement. The purpose of this article was to report a case of severe dry eye disease (DED) possibly associated with Charcot-Marie-Tooth disease. CASE REPORT: We report the clinical presentation, workup, and management of a woman diagnosed with CMT type 2EE based on genetic testing who suffered from severe DED sequelae. The patient had regularly followed up in the cornea service at our hospital due to DED for several years. A thorough workup to exclude causes associated with dry eye disease, including rheumatoid factor, erythrocyte sedimentation rate (ESR), anti-nuclear antibody (ANA), anti-Sjögren’s-syndrome-related antigen A (anti-SSA), and anti-Sjögren’s-syndrome-related antigen B (Anti-SSB), were performed, and all came out negative. She recently presented to the emergency room with redness, tearing, and a decline in visual acuity after minor ocular trauma 3 weeks before her presentation. The slit lamp examination showed central corneal perforation measuring 2×2 mm with a positive Seidel test. The case was managed first by multiple attempts to seal the defect with cyanoacrylate glue, and then a patch corneal graft was performed as the anterior chamber failed to deepen. CONCLUSIONS: DED may be one of the many ocular manifestations associated with CMT. Hence, a thorough assessment and multidisciplinary approach, including supportive therapy, are warranted to prevent long-term ocular sequelae, including visual loss.