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Severe Macular Atrophy in an Infant With Neuromuscular Oculoauditory Syndrome

Justin S Yun1, Marcus H Yamamoto2,3, Alejandro I Marin2

  • 1David Geffen School of Medicine, University of Hawaii at Manoa, Honolulu, Hawaii.

Ophthalmic Surgery, Lasers & Imaging Retina
|October 6, 2025
PubMed

Insights

Pathogenic variants in the DHX16 gene cause neuromuscular oculoauditory syndrome (NMOAS), a rare condition. This case highlights a new DHX16 variant in an infant with hearing loss, hypotonia, and retinal dystrophy, emphasizing genetic testing.

Area of Science:

  • Genetics
  • Ophthalmology
  • Neurology

Background:

  • Neuromuscular oculoauditory syndrome (NMOAS) is a rare genetic disorder.
  • It is characterized by sensorineural hearing loss, neuromuscular deficits, and retinal abnormalities.
  • Pathogenic variants in the DEAH-box helicase 16 (DHX16) gene are implicated in NMOAS.

Purpose of the Study:

  • To report a rare case of NMOAS in an infant.
  • To describe the clinical and genetic findings.
  • To expand the understanding of DHX16-associated NMOAS.

Main Methods:

  • Clinical examination including ophthalmological assessment.
  • Spectral-domain optical coherence tomography (SD-OCT).
  • Whole trio genome sequencing.

Main Results:

  • A 6-month-old girl presented with congenital sensorineural hearing loss, global hypotonia, and bilateral retinal dystrophy.
  • Ophthalmological findings included severe macular atrophy and peripheral pigmentary changes.
  • Whole trio genome sequencing identified a likely pathogenic de novo heterozygous DHX16 variant (c.1360C>T, p.Arg454Trp).

Conclusions:

  • This case expands the phenotypic spectrum of DHX16-associated NMOAS.
  • Comprehensive ophthalmological assessment and genetic analysis are crucial for diagnosing infants with multisystem involvement.
  • The identified DHX16 variant, previously reported in only one patient, is likely pathogenic.

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