The purpose of this master's thesis is to present a rare genetic disorder called Bosch-Boonstra-Schaaf optic atrophy syndrome. Bosch-Boonstra-Schaaf optic atrophy syndrome is a monogenic autosomal dominant disorder of the NR2F1 gene, characterized by developmental delay, intellectual disability, and optic atrophy. The NR2F1 gene is located on the long arm of chromosome 5, at position 5q15. The protein encoded by the NR2F1 gene functions as a nuclear hormone receptor and transcription regulator. Pathogenic gene variants and deletions affecting chromosome 5 lead to the manifestation of the clinical features of Bosch-Boonstra-Schaaf syndrome. Ophthalmological clinical features include abnormalities of the optic nerve, optic disc pallor and excavation, strabismus and latent nystagmus. Other features include developmental and speech delay, hypotonia, obsessive-compulsive disorder, oromotor dysfunction, repetitive movements, features from the autism spectrum and behavioral disorders, as well as thinning of the corpus callosum. The most severe clinical presentation is caused by pathogenic variants in the DNA-binding domain of the protein, followed by pathogenic variants that result in premature stop codons and frameshift mutations, while complete gene deletions and pathogenic variants in the ligand-binding domain of the protein lead to milder clinical phenotypes. In most described cases, the disease arises de novo, although two cases of gonadal mosaicism have been reported. The main symptoms and signs of the disease are hypoplasia of the optic nerve or optic atrophy combined with developmental delay or intellectual disability, and the final diagnosis is established through genetic testing. Patient management is focused on addressing the symptoms and improving the quality of life.