Hemorrhagic glaucoma in an infant with hemophilia, spontaneous hyphema, aniridia, and persistent iris vessels

In January 2000, a 2-month-old infant with known hemophilia A and aniridia presented with a new finding of spontaneous hyphema and severe intraocular pressure (IOP) elevation of the left eye. The IOP remained severely elevated (44 mm Hg) after 48 hours of intensive medical management and factor VIII administration. An anterior chamber washout was performed followed by normalization of IOP. During examination performed with the patient under sedation, an extensive capillary plexus was noted over the anterior lens of both eyes consistent with persistent iris structures associated with aniridia (Figure 1).1,2 These vessels appeared to be the source of the spontaneous hyphema in the left eye (Figure 2).3 To our knowledge, this is this first time that this association has been reported. This term male infant was delivered by cesarean section because of failure to progress. Birth weight was 3185 g. Hemophilia A was diagnosed at birth based on uncontrolled bleeding after heel stick, severe factor VIII deficiency, and family history of hemophilia A. Recombinant factor VIII was administered and the patient was discharged in good condition. At 6 weeks of age, the parents noted nystagmus. A comprehensive eye examination performed without sedation by one of authors (B.V.D.) revealed variable bilateral horizontal nystagmus, occasional up-beat nystagmus, normal corneas, almost complete absence of iris tissue (Figure 1), blond fundi, foveal hypoplasia, and normal optic nerve heads. Estimated cycloplegic refraction by retinoscopy was –3.00 sphere for both eyes. The IOPs measured by Tonopen (Medtronic Xomed, Jacksonville, Fla) were 12 and 16 mm Hg for the right and left eye, respectively. Magnetic resonance imaging of the brain (for nystagmus) and renal ultrasonography (to rule out Wilms tumor) were normal except for a thin corpus callosum. Nystagmus was attributed to foveal hypoplasia associated with aniridia. Neither hyphema nor vestigial iris vessels were detected on baseline eye examination. There was no family history of aniridia; however, no family members have been personally examined by any of the authors. At 10 weeks of age, the parents noted a maroon discoloration of the child’s left pupil. There was no history of trauma. Repeat examination by the same ophthalmologist (B.V.D.) demonstrated a new hyphema of the left eye. The IOP was 45 mm Hg in the left eye. The fundus of the left eye was obscured because of hemorrhage. Examination of the right eye was unchanged from baseline. The patient was admitted and given intravenous recombinant factor VIII, 200 units every day; acetazolamide, 25 mg orally every 6 hours; and the following topical drops to the left eye: timolol, 0.5% twice a day; dorzolamide, twice a day; apraclonidine, 0.5% three times a day; latanoprost 0.005%, every day; atropine 1%, twice a day; and tobramycin/dexamethasone twice a day. Forty-eight hours after admission, the IOP was 44 mm Hg in the left eye. An anterior chamber washout was performed by an author (S.R.S.) via 2 paracentesis sites to allow gentle infusion of balanced salt solution through one paracentesis and evacuation of unclotted blood through the other paracentesis. During this procedure, the vascular changes described in Figures 1 and 2 were noted. Gonioscopy was not performed.