Ophthalmology / Magnetic Resonance Imaging / Family / Humans / Inborn errors of metabolism / Male / Pedigree / Clinical Sciences / Newborn Infant / Optometry and Ophthalmology / Public health systems and services research / Seizures / Human Fibroblasts / Autosomal Recessive / Nervous System Diseases / Male / Pedigree / Clinical Sciences / Newborn Infant / Optometry and Ophthalmology / Public health systems and services research / Seizures / Human Fibroblasts / Autosomal Recessive / Nervous System Diseases