Pediatric Ocular Abnormalities: A Pictorial Review of Genetic, Metabolic, and Syndromic Associations. Part 2: Abnormalities of the Vitreous, Retina, and Optic Nerve

SUMMARY: Building upon the evaluation of globe size and lens abnormalities presented in Part 1, this second installment focuses on the spectrum of developmental anomalies affecting the vitreoretinal compartment and the optic pathway. The radiographic evaluation of these structures is critical in pediatric neuroradiology, as specific ocular findings serve as key diagnostic indicators for underlying genetic and metabolic syndromes. We present a pattern-based approach to vitreoretinal disorders, differentiating the stalklike anomalies of persistent fetal vasculature from the complex retinal detachments seen in rare genetic entities such as Norrie disease and Coats plus syndrome. The review further delineates pathologies of the optic nerve, contrasting the hypoplasia characteristic of septo-optic dysplasia with the distinctive optic nerve enlargement found in metabolic disorders like Krabbe disease. By integrating these specific orbital findings with concurrent brain anomalies, the radiologist can significantly narrow the differential diagnosis, moving beyond descriptive reporting to guide precise genetic testing and prognostic counseling. Abbreviations FASI: focal areas of signal intensity LHON: Leber hereditary optic neuropathy MLD: metachromatic leukodystrophy ND: Norrie disease NF1: neurofibromatosis type 1 OI: osteogenesis imperfecta OPG: optic pathway glioma OPPG: osteoporosis-pseudoglioma syndrome PFV: persistent fetal vasculature SOD: Septo-optic dysplasia TSC: tuberous sclerosis complex VHL: Von Hippel-Lindau WWS: Walker-Warburg syndrome