Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.

PURPOSE: To describe the ocular clinical characteristics of a group of Mexican patients with lamellar ichthyosis (LI) arising from TGM1 pathogenic variants. METHODS: Ophthalmological exploration, pedigree analysis and genetic screening were performed in patients with an established clinical diagnosis of lamellar ichthyosis from families located in a small community in the Southeast of Mexico. RESULTS: Nine patients with LI in five families were identified. There were six affected females. All patients (9/9) demonstrated eye lid abnormalities with eight patients showing lid margin abnormalities. Madarosis was present in only three individuals and corneal scarring was documented in two. All nine individuals carried biallelic TGM1 variants, either homozygously or as compound heterozygous. CONCLUSION: Ocular anomalies are common in individuals with TGM1-related LI. The occurrence of a variety of private or rare mutations hampers the identification of a genotype-phenotype correlation for ocular anomalies in this disorder.

Paraproteinemic Keratopathy in a Patient With Previous LASIK Procedure Mimicking Lattice Corneal Dystrophy.

PURPOSE: The aim of this study was to report a unique clinical presentation of paraproteinemic keratopathy after a myopic uneventful laser in situ keratomileusis (LASIK) procedure that led to the diagnosis of gammopathy of undetermined significance. METHODS: This was an interventional case report. A 55-year-old woman present with bilateral branching opacities limited to the optical zone of myopic LASIK. The patient's medical history was unremarkable. RESULTS: After ruling out a mutation in TGF-ß1 , a systemic workup was performed, revealing an IgG level of 12.8 mg/dL, lambda-free light chain of 12.8 mg/dL, and M-spike of 0.6 g/dL. Bone marrow aspiration was slightly hypercellular, without evidence of neoplastic infiltration by plasma cells. The patient underwent 3 cycles of systemic chemotherapy, with improvement in best-corrected visual acuity. CONCLUSIONS: Paraproteinemic keratopathy is a rare clinical presentation that may lead to a systemic diagnosis of hematologic malignancy. To the best of our knowledge, this is the first reported case of paraproteinemic keratopathy after LASIK.

Delayed-onset pressure-induced interlamellar stromal keratitis (PISK) and interface epithelial ingrowth 10 years after laser-assisted in situ keratomileusis.

Purpose: To report a case of pressure-induced interlamellar stromal keratitis (PISK) 10 years after laser assisted in situ keratomileusis (LASIK). Observations: A case of a 36-year-old man who underwent LASIK and presented with PISK 10 years later. Before presenting to our department he consulted elsewhere for red eye, decreased visual acuity, foreign body sensation, and pain on the RE for 1 week. He was then prescribed topical prednisolone six times per day and was lost to follow-up. On examination and after 1 month of continuous use of steroids uncorrected distance visual acuity (UCDV) was 20/400 in the right eye (RE) and 20/20 in the left eye (LE). Best corrected visual acuity was 20/80 on the RE. The Goldmann intraocular pressure (IOP) was 26 and 17 mmHg in the RE and LE, respectively. Slit lamp biomicroscopy revealed fluid in the interface and epithelial ingrowth. Fundoscopic examination results were normal in both eyes. Treatment was initiated with topical brimonidine tartrate 0.2%, timolol 0.5%, and dorzolamide 2.0% BID. Once the pressure was controlled the patient was scheduled for mechanical debridement of the epithelial ingrowth with significant improvement of UCVA (20/25). Conclusions: Refractive surgeons should be aware of PISK as a potential complication of LASIK even years after the procedure. Intraocular pressure can be misleading, and diligent and careful examination are key to diagnosis and treatment of this potentially blinding complication.