Glaucomatous optic disc changes despite normal baseline intraocular pressure in a child

Area of Science:

• Ophthalmology
• Pediatrics
• Hematology

Background:

• Sickle cell disease (SCD) is a genetic blood disorder with various systemic complications.
• Glaucoma is a group of eye conditions that damage the optic nerve, often associated with elevated intraocular pressure (IOP).
• Normal-tension glaucoma (NTG) is a subtype where optic nerve damage occurs despite normal IOP levels.

Observation:

• A 9-year-old male with a history of SCD presented with symptoms suggestive of an ocular issue.
• Over a 5-year follow-up, the patient developed bilateral optic disc cupping and retinal nerve fiber layer thinning.
• Visual field testing revealed an inferior arcuate defect in the right eye, all without elevated IOP.

Findings:

• The patient was diagnosed with glaucoma associated with sickle cell disease and normal baseline IOP.
• Neuro-ophthalmic conditions were systematically excluded as the cause.
• Brimonidine therapy was initiated for management.

Implications:

• This is the first reported case of NTG in a pediatric patient with SCD.
• NTG should be considered in the differential diagnosis of pediatric glaucoma.
• Diagnosis of NTG in children requires careful exclusion of other pathologies.