{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T17:23:24Z","timestamp":1776446604431,"version":"3.51.2"},"reference-count":9,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T00:00:00Z","timestamp":1776384000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Lamellar ichthyosis is a rare congenital disorder of keratinization frequently associated with ocular complications, most commonly cicatricial ectropion and exposure keratopathy. We present a case of severe mixed exposure-related and neurotrophic keratopathy with marked corneal thinning in a 61-year-old man with genetically confirmed lamellar ichthyosis. At presentation, the best-corrected visual acuity (BCVA) in the right eye was limited to hand motion (logMAR 2.3). Slit-lamp examination revealed a large central to inferocentral corneal ulcer measuring approximately 3 \u00d7 4 mm with severe stromal thinning in the setting of marked lower eyelid ectropion, incomplete eyelid closure, and chronic ocular surface exposure, while anterior segment optical coherence tomography (AS-OCT) demonstrated a minimal corneal thickness of approximately 165 \u00b5m. Microbiological swabs obtained from the conjunctival sac were negative, and no purulent discharge, hypopyon, or anterior chamber inflammatory reaction was present, making active infectious keratitis unlikely. Corneal sensitivity measured with Cochet\u2013Bonnet esthesiometry at presentation, centrally and in all four peripheral quadrants of both eyes, was markedly reduced, more severely in the affected right eye, supporting the presence of a severe neurotrophic component contributing to impaired corneal healing. Intensive conservative therapy including preservative-free lubricants, dexpanthenol gel, autologous serum eye drops, topical insulin, prophylactic antibiotics, and systemic doxycycline was initiated. Serial AS-OCT imaging demonstrated progressive structural recovery, with corneal thickness increasing to 438 \u00b5m after one month of treatment and complete corneal epithelialization. The BCVA improved to 0.2 Snellen (0.7 logMAR). This case highlights the diagnostic value of multimodal anterior segment imaging in monitoring severe mixed keratopathy with advanced corneal thinning and demonstrates that intensive conservative therapy may stabilize the ocular surface and prevent corneal perforation in patients with lamellar ichthyosis.<\/jats:p>","DOI":"10.3390\/diagnostics16081209","type":"journal-article","created":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T16:30:36Z","timestamp":1776443436000},"page":"1209","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Multimodal Anterior Segment Imaging of Severe Mixed Exposure-Related Neurotrophic Keratopathy with Marked Corneal Thinning in Lamellar Ichthyosis"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8266-1803","authenticated-orcid":false,"given":"Wojciech","family":"Lubo\u0144","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medical Sciences, Medical University of Silesia, 40-514 Katowice, Poland"},{"name":"Department of Ophthalmology, Professor K. Gibi\u0144ski University Clinical Center, Medical University of Silesia, 40-514 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4170-3517","authenticated-orcid":false,"given":"Ma\u0142gorzata","family":"Lubo\u0144","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Professor K. Gibi\u0144ski University Clinical Center, Medical University of Silesia, 40-514 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariola","family":"Dorecka","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medical Sciences, Medical University of Silesia, 40-514 Katowice, Poland"},{"name":"Department of Ophthalmology, Professor K. Gibi\u0144ski University Clinical Center, Medical University of Silesia, 40-514 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.sjopt.2015.12.004","article-title":"Ocular manifestation of Ichthyosis","volume":"30","year":"2016","journal-title":"Saudi J. Ophthalmol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1136\/bjophthalmol-2017-310615","article-title":"Ocular manifestations, complications and management of congenital ichthyoses: A new look","volume":"102","author":"Malhotra","year":"2018","journal-title":"Br. J. Ophthalmol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"59","DOI":"10.4103\/1319-4534.301289","article-title":"Corneal ulcer secondary to ectropion in lamellar Ichthyosis: A rare congenital disorder","volume":"34","author":"Bhedasgaonkar","year":"2020","journal-title":"Saudi J. Ophthalmol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"14","DOI":"10.5114\/ada.2021.104272","article-title":"Ocular manifestations of skin diseases with pathological keratinization abnormalities","volume":"38","author":"Zdebik","year":"2021","journal-title":"Postepy Dermatol. Alergol."},{"key":"ref_5","first-page":"e80023","article-title":"Ocular Manifestations Leading to the Diagnosis of Ichthyosis: A Case Report","volume":"17","author":"Khadamy","year":"2025","journal-title":"Cureus"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"3659","DOI":"10.1007\/s10792-023-02774-3","article-title":"Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population","volume":"43","author":"Zenteno","year":"2023","journal-title":"Int. Ophthalmol."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Mici\u0144ska, A., Nowi\u0144ska, A., Teper, S., Kokot-Lesik, J., and Wyl\u0119ga\u0142a, E. (2023). Advanced Anterior Eye Segment Imaging for Ichthyosis. J. Clin. Med., 12.","DOI":"10.20944\/preprints202306.1259.v1"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"e935544","DOI":"10.12659\/AJCR.935544","article-title":"Severe Bilateral Ectropion in Lamellar Ichthyosis: A Case Report","volume":"23","author":"Moustaine","year":"2022","journal-title":"Am. J. Case Rep."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"345","DOI":"10.5935\/0004-2749.20190068","article-title":"Diseases, conditions, and drugs associated with cicatricial ectropion","volume":"82","author":"Rossetto","year":"2019","journal-title":"Arq. Bras. Oftalmol."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/16\/8\/1209\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T16:36:56Z","timestamp":1776443816000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/16\/8\/1209"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,17]]},"references-count":9,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2026,4]]}},"alternative-id":["diagnostics16081209"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics16081209","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,17]]}}}