Acute vision loss in children with autosomal recessive polycystic kidney disease

Area of Science:

• Ophthalmology
• Nephrology
• Pediatrics

Background:

• Autosomal recessive polycystic kidney disease (ARPKD) is a genetic disorder primarily affecting the kidneys, often leading to renal insufficiency and hypertension in affected children.
• End-stage renal disease (ESRD) is a severe complication of ARPKD, necessitating intensive medical management.
• Anterior ischemic optic neuropathy (AION) is a rare condition causing sudden vision loss, typically associated with vascular risk factors.

Observation:

• This report details two pediatric cases of ARPKD with ESRD who experienced concurrent development of AION and subsequent vision loss.
• The occurrence of AION in children with ARPKD and ESRD is unprecedented in medical literature.
• Both patients presented with chronic hypotension and anemia, recognized risk factors for ischemic optic neuropathy.

Findings:

• The study highlights a novel association between ARPKD, ESRD, and AION in pediatric patients.
• Chronic hypotension and anemia were present in both affected children, suggesting their potential role in the pathogenesis of AION in this specific context.
• This case series underscores the vulnerability of patients with ARPKD and ESRD to ocular complications.

Implications:

• These findings suggest that pediatric patients with ARPKD and ESRD, particularly those with chronic hypotension and anemia, require vigilant monitoring for visual disturbances.
• Ophthalmological evaluation should be considered in the comprehensive management of children with ARPKD and ESRD presenting with visual symptoms.
• Further research is warranted to elucidate the precise mechanisms linking ARPKD, ESRD, hypotension, anemia, and AION in the pediatric population.