In vivo confocal microscopy qualitative investigation of the relationships between lattice corneal dystrophy deposition and corneal nerves

Background To investigate the corneal neurotropic phenomenon in patients with lattice corneal dystrophy (LCD) with in vivo laser scanning confocal microscopy (IVCM). Methods IVCM was performed on a total of 15 patients (28 eyes) with LCD annually at a follow-up. A collection of the data was acquired to be analyzed. Results As indicated by the analysis, the LCD patients’ normal corneal stromal nerves (Grade 0) presented a decline with the prolongation of the follow-ups, corresponding to a gradual increase in grade I and II involving amyloid-wrapped nerve fibers, which demonstrated that the growing amount of amyloid deposit due to the corneal nerve invasion increased slowly over time. Conclusions The neurotropic phenomenon could increase with its severity in the corneal lesion of the patients with LCD, and also reflect the distribution of the corneal nerves, to some extent. IVCM provides a rapid, noninvasive way to observe the corneal nerves, which can be an efficient means of better understanding the development of LCD.

A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy

Introduction: We describe the phenotype of a variant lattice corneal dystrophy (LCD) potentially caused by a novel variant c.1772C>T p.(Ser591Phe) in exon 13 of the transforming growth factor beta-induced (TGFBI) gene. Case report: The proband, a 71-year-old woman referred because of bilateral LCD, first seen at the age of 65 years, with recent progressive symptoms, underwent a clinical ophthalmological examination, anterior segment optical coherence tomography and confocal microscopy. Additionally, three siblings and three children were examined. The identified TGFBI variant was screened in six family members using Sanger sequencing. A corneal dystrophy gene screen was performed for the proband. Translucent subepithelial irregularities and central to midperipheral stubby branching corneal stromal lattice lines, asymmetric between the right and the left eye, were visible and resulted in mild deterioration of vision in one eye. Genetic testing revealed a novel variant c.1772C>T in TGFBI, leading to the amino acid change p.(Ser591Phe). One daughter carried the same variant but had only thick stromal nerve fibres at the age of 49 years. The other family members neither had corneal abnormalities nor carried the variant. No keratoplasty is yet planned for the proband. Conclusions: We classify the novel variant in TGFBI as possibly pathogenic, potentially causing the late-onset, asymmetric variant LCD. Our findings add to the growing number of TGFBI variants associated with a spectrum of phenotypes of variant LCD.

Neurotropic Grades in Lattice Corneal Dystrophy Based on in Vivo Confocal Microscopy Observation

Background: To investigate the corneal neurotropic phenomenon in patients with lattice corneal dystrophy (LCD) with in vivo laser scanning confocal microscopy (IVCM). Methods: IVCM was performed on a total of 15 patients (28 eyes) with LCD annually at a follow-up. A collection of the data was acquired to be analyzed. Results: As indicated by the analysis, the LCD patients’ normal corneal stromal nerves (Grade 0) presented a decline with the prolongation of the follow-ups, corresponding to a gradual increase in grade I and II involving amyloid-wrapped nerve fibers, which demonstrated that the growing amount of amyloid deposit due to the corneal nerve invasion increased slowly over time. Conclusions: The neurotropic phenomenon could increase with its severity in the corneal lesion of the patients with LCD, and also reflect the distribution of the corneal nerves, to some extent. IVCM provides a rapid, noninvasive way to observe the corneal nerves, which can be an efficient means of better understanding the development of LCD.

Contact lens induced bacterial keratitis in LCD II: Management and multimodal imaging: a case report and review of literature

Purpose: To describe the management and multimodal imaging of lattice corneal dystrophy type II (LCD-II) complicated by an infectious keratitis due to a bandage contact lens and to review current literature. Observation: A 50-year-old female was diagnosed with Meretoja’s Syndrome by the triad of facial palsy, loose skin (cutix laxa), and stromal corneal dystrophy. At slit lamp, bilateral lattice corneal dystrophy (LCD) was characterized by multiple linear refractile lines and subepithelial fibrosis along with Neurotrophic keratitis Mackie grade I. Findings of anterior segment optical coherence tomography (AS-OCT) were epithelial irregularity, subepithelial fibrosis, hyperreflectivity on anterior stromal layer, lobulated stromal surface. In vivo confocal microscopy (IVCM) showed hyperreflected deposits on the basal and Bowman layers, visible keratocytes; fine lines and streaks between corneal lamella. The sub-basal nerve plexus and the stromal nerves were no longer visible. She presented in emergency with a left red eye. A severe bacterial keratitis was diagnosed as a complication of a bandage contact lens used to treat recurrent epithelial erosion. Corneal anesthesia was complete. Corneal neovascularization was evident 10 weeks later and topical bevacizumab (5 mg/ml) was introduced twice daily. Partial regression of deep stromal vessels was noticed at 3 months. Conclusion: In Meretoja’s syndrome, neurotrophic keratopathy secondary to polyneuropathy due to systemic amyloid deposits is present in the advanced stages, promotes recurrent corneal erosions. Corneal sensitivity test, AS-OCT and IVCM are crucial in the diagnosis behind any recurrent corneal erosion. The use of bandage contact lens should be avoided in Meretoja’s syndrome to prevent a possible infectious keratitis.