RETINAL VASCULAR ABNORMALITY OF NONPERFUSION AND NEOVASCULARIZATION IN A TODDLER WITH NEUROFIBROMATOSIS TYPE 1.

PURPOSE: This report describes the case of a 13-month-old boy diagnosed with neurofibromatosis type 1, who presented with retinal vascular abnormalities including extensive nonperfusion and neovascularization. We also discuss the observed changes after photocoagulation treatment.

METHODS

A 13-month-old boy presented to the Department of Ophthalmology at Peking University People's Hospital with a reduction in the width of the left palpebral fissure for the past 6 months.

RESULTS

The boy exhibited more than six café-au-lait spots larger than 5 mm in diameter on his trunk and legs. Fundus examination of the left eye revealed significant neovascularization in the temporal periphery of the retina, with late leakage and nonperfusion also noted temporally in fluorescein angiography. Magnetic resonance imaging of the brain and orbits showed an enlarged left sphenoid body, a widened left cavernous sinus, and a large plexiform neurofibroma. Laser treatment was performed on the left eye. Five months later, the neovascularization was controlled.

CONCLUSION

Careful fundus examinations and systemic reviews, especially fluorescein angiography, are essential. Timely laser treatment is crucial for controlling disease progression and preventing retinal detachment.