Knobloch syndrome is an autosomal recessive condition characterized by high myopia, vitreoretinal degeneration, dislocated lenses, cataracts, and retinal detachment. Knobloch syndrome is a rare condition. However, the exact prevalence is unknown but less than 30 cases have been reported. Affected individuals may also have other abnormalities including: abnormal lymphatic vessels in the lung, patent ductus arteriosus, a single umbilical artery, pyloric stenosis, a flat nasal bridge, midface hypoplasia, bilateral epicanthic folds, cardiac dextroversion, generalized hyperextensibility of the joints, unusual palmar creases, and unilateral duplication of the renal collecting system. Encephaloceles may be associated with intellectual disability; however, most patients have normal intelligence. Diagnosis of KNO is based on ocular abnormalities and occipital encephalocele. Treatment is largely supportive, including retinal reattachment surgery, prophylactic treatment of the vitreoretinal pathology and photodynamic therapy.