The observation of anterior segment in children with an R124L mutation corneal dystrophy by anterior segment optical coherence tomography and in vivo confocal microscopy

Purpose To evaluate the anterior segment in children with an R124L mutation corneal dystrophy (CD) using anterior segment optical coherence tomography (AS-OCT) and in vivo confocal microscopy (IVCM). Methods We investigated a family with prevalent CD and an R124L mutation; 59 individuals (14 patients; 6 male and 8 female, aged 2–69 years, 6 children, 2:4 male: female ratio) from four generations were included. We observed corneal lesions through ophthalmologic examinations, AS-OCT, and IVCM. The mean follow-up was 4.60 ± 3.91 years. Results The mean age for childhood CD onset was 0.90 ± 0.61 years. An Avelino DNA test revealed a heterozygous R124L mutation. Clinical manifestations included recurrent photophobia, tearing, and a foreign body sensation. Recurrence frequency decreased with age. Slit lamp microscopy revealed a rough corneal epithelium. The anterior matrix under the corneal epithelium and the anterior elastic layer were scattered with gray and white opacity. From onset to follow-up, the children’s visual acuity decreased from 0.34 ± 0.12 to 0.55 ± 0.17 LogMAR units. AS-OCT showed uneven corneal epithelial thickness. The Bowman’s layer was replaced by abnormal substances in the anterior segment. Corneal deposits became increasingly thicker; the average thickness at the last follow-up was 102.78 ± 10.13 μm. IVCM revealed uneven and reflective signals in the corneal upper cortex and subepithelium, with unclear boundaries and a loss of normal cell morphology. Conclusion We report an early age of onset in a family with prevalent CD due to R124L mutations. AS-OCT is a convenient, quick, and non-contact tool for screening and monitoring the pathological process of CD.