Extreme Corneal Thinning In Neurotrophic Keratopathy Associated With Lamellar Ichthyosis: Successful Conservative Management

Lamellar ichthyosis is a rare inherited disorder of keratinization characterized by severe dermatologic manifestations and frequent ocular surface involvement. Chronic eyelid malposition, particularly cicatricial ectropion, may result in persistent exposure keratopathy, progressive corneal epithelial instability, and secondary neurotrophic keratopathy. In advanced stages, these changes may lead to stromal ulceration, extreme corneal thinning, and an increased risk of corneal perforation. The purpose of this report is to present a case of severe neurotrophic keratopathy with extreme corneal thinning in a patient with lamellar ichthyosis and to demonstrate the effectiveness of intensive therapeutic menagement.

Department of Ophthalmology, University Clinical Center in Katowice, Poland.

We report a case of a 61-year-old male with lamellar ichthyosis referred for severe ocular surface disease. Examination revealed bilateral lower eyelid ectropion with exposure keratopathy and advanced neurotrophic keratopathy with corneal ulceration and progressive stromal thinning. Corneal morphology and thickness were evaluated using AS-OCT. The patient was hospitalized and treated with intensive conservative therapy including topical fourth-generation fluoroquinolone antibiotics, preservative-free lubricants, dexpanthenol gel, autologous serum eye drops, topical insulin, and systemic doxycycline. Microbiological cultures and in vivo confocal microscopy were performed to exclude infectious keratitis.

Initial AS-OCT demonstrated extreme stromal thinning with a minimal corneal thickness of 165 µm, indicating a high risk of imminent corneal perforation. Microbiological cultures and confocal microscopy were negative for bacterial and fungal pathogens.

During hospitalization, progressive stabilization of the corneal structure was observed. Follow-up AS-OCT confirmed an increase in minimal corneal thickness from 165 µm to 280 µm. Visual acuity improved from hand motion (logMAR ~2.3) at presentation to 0.2 Snellen (logMAR 0.7). Due to the favorable clinical response, the initially planned amniotic membrane transplantation was deferred, although it remained a potential option for future management.

Lamellar ichthyosis may lead to severe ocular surface disease and rapidly progressive corneal complications, including neurotrophic keratopathy and extreme stromal thinning with a high risk of perforation. Intensive conservative therapy combining autologous serum, topical insulin, systemic doxycycline, and intensive lubrication may effectively stabilize corneal integrity and improve visual function. Early diagnosis, multidisciplinary management, and close monitoring are crucial to prevent vision-threatening complications and may allow avoidance or postponement of urgent surgical intervention.