Severe Macular Atrophy in an Infant With Neuromuscular Oculoauditory Syndrome

Pathogenic variants in DEAH-box helicase 16 (DHX16) that are critical regulators of mRNA metabolism have been linked to neuromuscular oculoauditory syndrome (NMOAS), a rare disorder characterized by sensorineural hearing loss, neuromuscular deficits, and retinal abnormalities. This report covers a rare case of a 6-month-old girl with congenital SNHL, global hypotonia, and distinctive bilateral retinal dystrophy. Eye exam revealed severe macular atrophy with peripheral pigmentary changes. Spectral-domain optical coherence tomography confirmed outer retinal thinning and disruption of the photoreceptor integrity. Whole trio genome sequencing identified a de novo heterozygous variant in DHX16, c.1360C>T (p.Arg454Trp), previously described in only one patient, and classified as likely pathogenic. This case expands the understanding of DHX16-associated NMOAS and the importance of comprehensive ophthalmological assessment and genetic analysis in infants with multisystem involvement.