High measured intraocular pressure in children with recessive congenital hereditary endothelial dystrophy

Area of Science:

• Ophthalmology
• Genetics
• Pediatric Eye Disease

Background:

• Recessive congenital hereditary endothelial dystrophy (RCHED) is a rare genetic disorder affecting corneal clarity.
• Accurate intraocular pressure (IOP) measurement is crucial for diagnosing and managing pediatric eye conditions, particularly congenital glaucoma.

Observation:

• A series of five infants diagnosed with RCHED presented with significant corneal haze and elevated IOP.
• Despite medical and surgical interventions aimed at lowering IOP, the pressure remained high in these infants.

Findings:

• The clinical diagnosis of RCHED was established based on specific criteria, including corneal morphology and the absence of glaucoma indicators like buphthalmos and optic nerve cupping.
• Measured IOP in these RCHED patients was consistently elevated, but without evidence of glaucomatous optic nerve damage.

Implications:

• Elevated IOP measurements in infants with RCHED can be a pseudohypertension, potentially leading to misdiagnosis of congenital glaucoma.
• This phenomenon highlights the importance of a comprehensive clinical evaluation, integrating corneal findings with IOP measurements, to differentiate RCHED from congenital glaucoma.