Although the clinical presentation was characteristic of SCD, accurate diagnosis required careful differentiation from other conditions that may present with similar clinical manifestations, such as corneal opacities or crystalline deposits, including lattice corneal dystrophy (LCD), Bietti crystalline dystrophy (BCD), Fish eye disease, lecithin-cholesterol acyltransferase (LCAT) deficiency, and Tangier disease. This evidence concerns the gene LCAT and Tangier disease.