Pediatric Keratoconus

To report an exceptionally early presentation of keratoconus in children conceived through assisted reproductive technolgy and to highlight potential interactions between genetic susceptibility and environmental or biological modifiers in early disease expression.

Research Institute of Ophthalmology. Tertiary ophthalmology referral center in Giza, Egypt. 

 A four-year-old female presented with reduced vision and was found to have myopia with significant myopic astigmatism. The child was born full term via caesarean section following in vitro fertilization (IVF). Aside from allergic papillary conjunctivitis, the ocular examination was unremarkable. However, corneal tomography and biomechanical assessment revealed findings consistent with keratoconus, including abnormal elevation patterns, corneal thinning and reduced biomechanical stability.

Evaluation of the dizygotic twin sister followed. She was clinically asymptomatic. Despite a nornal clinical examination, corneal imaging using Pentacam was diagnostic of keratoconus with reduced biomechanical stability. 

Family screening identified thin corneas and altered biomechanical parameters in the asymptomatic father despite normal tomography, suggesting subclinical disease and underlying genetic susceptibility.

Given the aggressive nature of pediatric keratoconus, both twins, underwent epithelium-off corneal cross-linking using the sub-400 protocol under general anaesthesia. 

This case highlights that keratoconus can present at an exceptionally early age and may remain clinically silent despite significant structural abnormalities detectable through advanced imaging. The findings are consistent with a two-hit hypothesis, in which inherited susceptibility interacts with modifying biological or environmental influences to enable early disease expression. Further investigation is needed to clarify whether ART-related hormonal or epigenetic factors may influence corneal development and susceptibility to ectatic disease. Early corneal imaging, biomechanical assessment, and family screening are therefore essential in high risk pediatric population.