Targeted panel sequencing identifies a novel mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome.

: Nuclear hormone receptor gene, , plays a key role in brain and eye development. Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS, MIM #615772) is an autosomal dominant hereditary disorder caused by mutations in this gene. However, there have been few studies describing fundus and optical coherence tomography findings on BBSOAS. : The patient underwent a detailed clinical evaluation and ophthalmic imaging followed by targeted panel next-generation sequencing analysis. : A 7-year-old Korean boy, with a history of delayed development and borderline intellectual functioning, was referred to our clinic for evaluation of low vision. He was born full-term with no perinatal insults. Best-corrected visual acuity was 20/100 in both eyes, and latent nystagmus was noted. Dilated fundus examinations revealed optic atrophy in both eyes, and optical coherence tomography showed diffuse thinning of retinal nerve fiber layers. Targeted panel next-generation sequencing showed novel c.513C>G; p.Tyr171Ter (NM_005654.4) in gene. This stop-gain mutation was predicted to be deleterious by prediction programs, and was absent in the current population genomic database. : We highlighted the value of genetic testing in definite diagnosis of BBSOAS in patients with unexplained optic atrophy.