Overview
Isolated optic nerve hypoplasia (ONH) or aplasia is a condition where one or both optic nerves — the nerves that carry visual information from the eyes to the brain — are underdeveloped (hypoplasia) or, in rare cases, completely absent (aplasia). This condition is present from birth. The term 'isolated' means it occurs on its own, without being part of a larger syndrome such as septo-optic dysplasia (de Morsier syndrome), which also involves brain and hormonal abnormalities. The main effect of this condition is reduced vision, which can range from mild visual impairment to complete blindness in the affected eye or eyes. When only one eye is involved, the other eye may have normal or near-normal vision. When both eyes are affected, vision loss tends to be more significant. Children with this condition may show involuntary eye movements (nystagmus), a wandering or misaligned eye (strabismus), and difficulty tracking objects. Note that this Orphanet entry is marked as 'OBSOLETE,' meaning it may have been reclassified or merged into a broader diagnostic category. Patients and families should discuss the most current classification with their doctor. There is currently no cure for optic nerve hypoplasia or aplasia. Treatment focuses on maximizing remaining vision through corrective lenses, patching therapy for amblyopia (lazy eye), and vision rehabilitation services. Early intervention with low-vision aids and educational support can significantly improve a child's development and quality of life.
Key symptoms:
Reduced vision in one or both eyesSmall or pale optic disc seen on eye examInvoluntary eye movements (nystagmus)Misaligned or wandering eyes (strabismus)Difficulty tracking objects with the eyesPoor depth perceptionReduced peripheral visionSensitivity to light in some casesDifficulty seeing in dim lightingOne pupil that reacts differently to light than the other
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Isolated optic nerve hypoplasia/aplasia.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Isolated optic nerve hypoplasia/aplasia.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to OBSOLETE: Isolated optic nerve hypoplasia/aplasia.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Is my child's optic nerve hypoplasia affecting one eye or both, and how severe is it?,Should we get an MRI to check for any brain or pituitary gland abnormalities?,Does my child need hormone testing to rule out associated endocrine problems?,Would genetic testing be helpful for our family, and what genes would be tested?,What vision rehabilitation services and early intervention programs are available?,How often should my child have eye exams going forward?,Are there any clinical trials or emerging treatments we should know about?
Common questions about OBSOLETE: Isolated optic nerve hypoplasia/aplasia
What is OBSOLETE: Isolated optic nerve hypoplasia/aplasia?
Isolated optic nerve hypoplasia (ONH) or aplasia is a condition where one or both optic nerves — the nerves that carry visual information from the eyes to the brain — are underdeveloped (hypoplasia) or, in rare cases, completely absent (aplasia). This condition is present from birth. The term 'isolated' means it occurs on its own, without being part of a larger syndrome such as septo-optic dysplasia (de Morsier syndrome), which also involves brain and hormonal abnormalities. The main effect of this condition is reduced vision, which can range from mild visual impairment to complete blindness
At what age does OBSOLETE: Isolated optic nerve hypoplasia/aplasia typically begin?
Typical onset of OBSOLETE: Isolated optic nerve hypoplasia/aplasia is neonatal. Age of onset can vary across affected individuals.