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The article presents a case study of a 2 year old Caucasian male with Knobloch syndrome at the Wills Eye Institute Department of Pediatric Ophthalmology and Ocular Genetic in Philadelphia, Pennsylvania. It informs that optical coherence tomography test (OCT) and electroretinography were performed, which revealed retinal thinning, photoreceptor loss, poor retinal lamination and macular hypoplasia that are characteristic for Knobloch syndrome, a rare autosomal recessive developmental disorder.