Similarly, case GEL-S08-01 with CG and features of autosomal recessive Knobloch syndrome (KS) had homozygous missense variants in COL18A1. KS is typically associated with high myopia, retinal detachment, lens subluxation, and occipital encephalocele [131]. The gene discussed is COL18A1; the disease is occipital encephalocele.