Optic atrophy in children: Current causes and diagnostic approach

Area of Science:

• Ophthalmology
• Pediatric Medicine
• Genetics

Background:

• Optic atrophy is a significant cause of childhood vision impairment.
• Diagnosis can be challenging due to diverse ocular and systemic etiologies.
• Identifying the cause is crucial for appropriate management and genetic counseling.

Purpose of the Study:

• To determine the causes of optic atrophy in children at a specialized eye hospital.
• To evaluate the diagnostic utility of various investigations, including molecular genetic testing.
• To analyze trends in pediatric optic atrophy over a five-year period.

Main Methods:

• Retrospective review of medical records for children diagnosed with optic atrophy.
• Data collection included demographics, clinical history, diagnostic investigations, and final diagnoses.
• Analysis of 143 cases treated between 2010 and 2015.

Main Results:

• All 143 cases had an identifiable cause for optic atrophy.
• Detailed patient history was diagnostic in 67% of cases.
• Common causes included developmental disorders (23%), inherited optic neuropathies (19%), perinatal insults (13%), and post-infectious/inflammatory conditions (13%).

Conclusions:

• A definitive cause for optic atrophy was found in all reviewed pediatric cases.
• Comprehensive antenatal, perinatal, postnatal, and family history is paramount for diagnosis.
• Targeted investigations aid in identifying causes in remaining cases, underscoring the importance of a systematic diagnostic approach.