Schnyders corneal dystrophy: A case report

Abstract

Schnyder corneal dystrophy (SCD) is a rare, autosomal dominant inherited dystrophy affecting the anterior stroma of the cornea. It is caused by a local metabolic defect mapped on the UBIAD1 gene chromosome 1p36. It is known to causes progressive bilateral opacification of the cornea due to an abnormal accumulation of phospholipids and cholesterol in the cornea. In our case a 22-year-old male with vision loss and ocular discomfort revelled multiple grey, infiltrates or disc like opacities in both eyes arranged in circinate manner on slit-lamp, involving the sub-epithelium and stroma. On anterior segment OCT, involvement of the entire stroma was noted with Increased deposits seen in the anterior 1/3rd of the stroma. Central corneal thickness was also increased in the areas of depositions, while systemic evaluation showed dyslipidemia. Clinical as well as anterior segment OCT findings suggest of intrastromal deposits in a ring like pattern, suggestive of schnyders corneal dystrophy. AS-OCT is vital in such cases to help differentiate epithelial involvement from stromal, thus altering the therapeutic approach. Patients can be planned for penetrating keratoplasty if visual acquits is affected.