Spontanverlauf einer gittrigen Hornhautdystrophie bei initial atypischem Hornhautbefund im Kindesalter mit 10-jährigem Follow-up

Lattice corneal dystrophy (LCD) is an epithelial-stromal TGFβI corneal dystrophy that affects both stromal cells and the corneal epithelium. Over a period of ten years, the spontaneous course of LCD has been documented and described in a patient with a positive family history from the age of 11. Initially, there was an atypical corneal finding with isolated fine superficial patchy and star-shaped opacities in the anterior corneal stroma in both eyes, but without the lattice lines typical of LCD. Over time, there was an increase in the number and density of the lattice lines, accompanied by subepithelial stromal haze, recurrent corneal erosions, and a reduction in visual acuity in young adulthood.Although in this case the diagnosis was facilitated by the positive family history, initially atypical clinical presentations can lead to diagnostic uncertainty. In particular, recurrent corneal erosions can occur even before the appearance of opacities or lattice lines detectable by slit lamp biomicroscopy, which can vary depending on the underlying mutation. In such cases, genetic testing is advisable if the findings are unclear in order to enable early diagnosis and targeted therapy. Therapeutic options include the application of artificial tears and phototherapeutic keratectomy, followed by deep anterior lamellar or penetrating keratoplasty if the findings worsen.