Justin S Yun, Marcus H Yamamoto, Alejandro I Marin, Carla Sargiotto, Daniela N Schweitzer, Irena Tsui
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引用次数: 0
Abstract
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.
期刊介绍：
OSLI Retina focuses exclusively on retinal diseases, surgery and pharmacotherapy. OSLI Retina will offer an expedited submission to publication effort of peer-reviewed clinical science and case report articles. The front of the journal offers practical clinical and practice management features and columns specific to retina specialists. In sum, readers will find important peer-reviewed retina articles and the latest findings in techniques and science, as well as informative business and practice management features in one journal.
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