Septo-optic dysplasia: a literature review.
BACKGROUND
Septo-optic dysplasia (SOD) is a rare disorder characterized by optic nerve hypoplasia with any combination of absent septum pellucidum and/or pituitary dysfunction. SOD may manifest as strabismus, nystagmus, decreased visual acuity, or visual impairment; as an endocrine dysfunction in isolation; or in addition to mental retardation, cerebral palsy, developmental delay, or delayed growth.


METHODS
This article reviews the presenting signs and symptoms of SOD, optic nerve hypoplasia, consequences of an absent septum pellucidum, endocrine findings associated with SOD, SOD diagnosis determination, syndromes associated with SOD, and optometry's role in caring for these patients. It also examines two cases that demonstrate the variety and severity of visual and physical impairments associated with SOD.


RESULTS
SOD has a multi-factorial etiology, including insult during pregnancy (e.g., viral infections, gestational diabetes); vascular disruption; or a genetic mutation. Children with SOD may manifest a variety of visual and/or physical symptoms that range from mild to severe.


CONCLUSIONS
The associated vision, developmental, neurologic, and endocrine disturbances require early diagnosis and management. Optometrists need to be aware of optic nerve hypoplasia (ONH) and consider this diagnosis in patients with visual acuity loss. A comprehensive eye examination and visual-field assessment should be completed in addition to appropriate referrals for endocrine, developmental, and/or cognitive anomalies.
Campbell
Carrie Lahnstein
CL
University of Houston, College of Optometry, Texas 77204-2020, USA. clahnstein@uh.edu
D000293:Adolescent; D002675:Child, Preschool; D004700:Endocrine System Diseases / Q000209:etiology; D005260:Female; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000209:etiology; D009896:Optic Atrophy / Q000209:etiology*; D009907:Optometry / Q000379:methods; D025962:Septo-Optic Dysplasia / Q000150:complications / Q000175:diagnosis* / Q000209:etiology; D014786:Vision Disorders / Q000175:diagnosis / Q000209:etiology