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Optic Nerve Aplasia.

Brooke D Saffren1, Shaden H Yassin, Brooke E Geddie

  • 1Philadelphia College of Osteopathic Medicine (BDS), Philadelphia, Pennsylvania; Pediatric Ophthalmology and Ocular Genetics (BDS, SHY), Wills Eye Hospital, Philadelphia, Pennsylvania; Pediatric Ophthalmology (BEG), Helen DeVos Children's Hospital, Grand Rapids, Michigan; The Rotterdam Eye Hospital (JTHNF), Rotterdam, the Netherlands ; Cullen Eye Institute (LSB), Baylor College of Medicine, Houston, Texas; Department of Pediatric Ophthalmology (MB), LV Prasad Eye Institute, Hyderabad, India ; Ophthalmology Unit (SG), Ricardo Gutiérrez Children Hospital, Buenos Aires, Argentina ; Cataract and Laser Institute of Southern Oregon PC (TR), Medford, Oregon; Flaum Eye Institute and Golisano Children's Hospital (AVL), University of Rochester, New York, New York.

Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society
|April 19, 2021
PubMed
Summary
This summary is machine-generated.

Optic nerve aplasia (ONA) is a rare condition affecting vision. This study details ophthalmologic, systemic, and genetic findings in nine ONA cases, revealing associated anomalies and potential links to optic nerve hypoplasia.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Optic nerve aplasia (ONA) is a rare congenital ocular anomaly.
  • Understanding its full spectrum of manifestations is crucial for diagnosis and management.

Purpose of the Study:

  • To report comprehensive ophthalmologic, systemic, and genetic findings in patients with optic nerve aplasia.
  • To explore the relationship between ONA and other optic nerve developmental disorders.

Main Methods:

  • Case series involving nine patients diagnosed with ONA.
  • Data collection included ophthalmologic examinations, systemic evaluations, neuroimaging, and genetic testing.
  • Patients were identified through an international pediatric ophthalmology listserv and clinical practice.

Main Results:

  • Seven of nine cases presented with bilateral ONA.
  • Associated ocular anomalies included glaucoma, microcornea, and various retinal and iris defects.
  • Systemic findings encompassed facial dysmorphism, cardiac, genitourinary, and skeletal defects. A BCOR mutation was identified in one patient.

Conclusions:

  • ONA can be unilateral or bilateral, often accompanied by anterior/posterior segment anomalies and/or systemic findings.
  • The presence of rudimentary optic nerves in one case suggests ONA may exist on a continuum with optic nerve hypoplasia.