Endothelial dysfunction in a child with Pearson marrow-pancreas syndrome managed with Descemet stripping automated...

Area of Science:

• Ophthalmology
• Genetics
• Pediatric Medicine

Background:

• Pearson marrow-pancreas syndrome is a rare mitochondrial disorder.
• Corneal complications, including thickening and edema, can occur in Pearson syndrome.
• Progressive photophobia is a debilitating symptom associated with corneal changes.

Observation:

• A 4-year-old girl with Pearson syndrome presented with progressive, severe photophobia.
• Ophthalmic examination revealed bilateral diffuse corneal thickening and peripheral pigmentary retinopathy.
• The patient had a history of Pearson marrow-pancreas syndrome.

Findings:

• The patient underwent bilateral Descemet stripping automated endothelial keratoplasty (DSAEK) utilizing a modified suture pull-through technique.
• Post-surgery, there was no cataract formation or graft detachment observed.
• Corneal thinning and significant improvement in photophobia were noted post-DSAEK.

Implications:

• DSAEK is a viable surgical option for managing corneal complications in pediatric patients with Pearson syndrome.
• Successful corneal transplantation can dramatically improve visual symptoms like photophobia.
• This case highlights the importance of ophthalmic surveillance in rare genetic syndromes.