Short answer · Medically reviewed summary · Last updated: 2026-05-08
Optic Nerve Hypoplasia (ONH) is classified under ICD-10 code Q14.2 (Congenital malformation of optic disc) and was previously classified under ICD-9 code 743.51. These codes are used by healthcare providers to document the underdevelopment of the optic nerve, which is a structural condition present at birth. What exactly is Optic Nerve Hypoplasia? Optic Nerve Hypoplasia is a congenital condition characterized by an underdeveloped optic nerve, the bundle of nerve fibers that transmits visual information from the eye to the brain.
ICD10 code of Optic Nerve Hypoplasia and ICD9 code
ICD-10 and ICD-9 codes for Optic Nerve Hypoplasia, with classification details for clinicians, coders and patients.
Optic Nerve Hypoplasia (ONH) is classified under ICD-10 code Q14.2 (Congenital malformation of optic disc) and was previously classified under ICD-9 code 743.51. These codes are used by healthcare providers to document the underdevelopment of the optic nerve, which is a structural condition present at birth.
What exactly is Optic Nerve Hypoplasia?
Optic Nerve Hypoplasia is a congenital condition characterized by an underdeveloped optic nerve, the bundle of nerve fibers that transmits visual information from the eye to the brain. Because the nerve is smaller than average, it can lead to varying degrees of vision loss, ranging from mild impairment to total blindness in one or both eyes. Within the DiseaseMaps.org community, 73 people with Optic Nerve Hypoplasia have shared their experiences, highlighting the diverse nature of visual acuity and associated systemic health needs among those diagnosed.
How is Optic Nerve Hypoplasia diagnosed?
Diagnosis of Optic Nerve Hypoplasia typically occurs in early infancy or childhood through a comprehensive eye examination. A pediatric ophthalmologist or neuro-ophthalmologist will use an ophthalmoscope to visualize the optic disc. Common diagnostic features often identified include:
- A small, pale optic disc.
- The "double-ring sign," where a peripapillary halo surrounds the optic disc.
- Reduced visual acuity or visual field defects.
- Potential association with de Morsier syndrome (septo-optic dysplasia), requiring endocrine evaluation.
Is Optic Nerve Hypoplasia hereditary?
In the vast majority of cases, Optic Nerve Hypoplasia occurs sporadically, meaning it is not inherited from parents. While researchers continue to study potential genetic markers, most individuals with Optic Nerve Hypoplasia do not have a family history of the condition. Clinical geneticists often emphasize that environmental factors during pregnancy are currently the leading theories behind its occurrence, rather than direct genetic inheritance.
Next steps
- Schedule a consultation with a pediatric neuro-ophthalmologist for a baseline visual assessment.
- Consult an endocrinologist to rule out pituitary hormone deficiencies often associated with Optic Nerve Hypoplasia.
- Connect with the 73 members on DiseaseMaps.org to share resources and emotional support.
- Contact organizations like the Magic Foundation for specific guidance on septo-optic dysplasia.
Medical disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of a qualified physician regarding any medical condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Optic Nerve Hypoplasia.
- Orphanet: Septo-optic dysplasia (ORPHA:3137).
- OMIM (Online Mendelian Inheritance in Man): Optic Nerve Hypoplasia (Entry #165550).
- American Association for Pediatric Ophthalmology and Strabismus (AAPOS).
