Purpose to report a case of congenital glaucoma without hypertention associated with Von Recklinghausen’s disease.
Method a 16-month-old boy was referred to our eye institute for enlarged cornea and poor eyesight of the right eye since birth. Physical and ophthalmic examinations under general anesthesia as well as CT scan of the orbits were performed.
Results café-au-lait spots, right facial hypertrophy, homolateral palpebral plexiform neurofibroma and sphenoid bone defect were present in this case. However, some interesting features include absence of light-sensitive behaviors, asymmetry of corneal diameter (13mm, right, 11mm, left) without corneal haze and bilateral intraocular pressure within normal range (18.86mmHg, both) with asymmetry of cup/disc ratio (1.0, right, 0.3, left). Gonioscopic examinations revealed no abnormalities of the iridocorneal angle. Ultrasonography and CT scan ruled out tumors of the optic nerve and orbital soft tissues. Neither surgical nor medical treatment was offered. Follow-up examination after 8 months found no worsening of corneal size, cup/disc ratio and intraocular pressure.
Discussion to our knowledge, it is the first time to describe a neurofibromatosis type 1 patient with main congenital glaucomatous manifestations except hypertension. It is important to perform exact ophthalmic examinations on newborns with high suspicion of facial-orbital neuromatosis to rule out congenital glaucoma.