Fabry disease and chemosis.

PURPOSE: To report the case of a patient with Fabry disease (FD) whose ocular presentation with chronic chemosis we feel is related to FD and to describe the conjunctival fluorescein angiographic findings. METHODS: A 51-year-old male patient with FD on enzyme replacement therapy presented with 1-month chemosis and mild irritation in the left eye. Ocular examination revealed pronounced noninflammatory chemosis inferotemporally in the left eye with conjunctival tortuosity and microaneurysms bilaterally. There was mild corneal verticillata, spoke-like lens opacities, and retinal vascular tortuosity bilaterally, with no evidence of disc or macular edema. Evaluation revealed no systemic cause for his chemosis, including an orbital computerized tomography scan, which showed clear sinuses and no evidence of an intraorbital mass. RESULTS: Conjunctival fluorescein angiography revealed rapid subconjunctival accumulation of dye in the involved eye but failed to demonstrate leakage from tortuous conjunctival vessels or microaneurysms. CONCLUSIONS: Although the pathology of chronic chemosis in patients with FD is as yet unknown, we believe that FD should be considered in the differential diagnosis of patients presenting with chronic chemosis of unknown etiology.

Monocular temporal hemianopia with septo-optic dysplasia.

A 26-year-old woman displayed a monocular temporal hemianopic defect together with an ipsilateral afferent pupillary defect and bowtie optic nerve hypoplasia. MRI revealed a thin right optic nerve, an asymmetrically thinned chiasm, and an absent septum pellucidum. Monocular temporal visual field loss from organic lesions is quite rare but has been reported in conjunction with compressive lesions at the optic nerve-optic chiasm junction. This is the first report to demonstrate this visual field defect together with bowtie optic nerve hypoplasia.

Revision choanal atresia repair.

OBJECTIVE: Since the first description of choanal atresia (CA) in 1755, multiple surgical techniques have been proposed to repair the malformation. Today, the transnasal endoscopic method is the most widely accepted repair technique. The bony choanal plates are perforated, the lateral choanae are drilled, and a portion of the vomer removed. Unfortunately, the problem of re-stenosis is a significant issue, and as a result, revision surgery may be a recurring theme in some children. We describe a successful revision endoscopic technique utilizing a microdebrider with straight and 120 degrees telescopes, image guided surgery, and topical mitomycin-C to permanently open the choanae without stenting. METHODS: Described are six children (1-15 years old) with CA or stenosis who have collectively undergone 25 choanal procedures at various institutions. A microdebrider carefully removes the bony septum under direct nasal and intraoral telescopic visualization. No lateral drilling is performed. Image guidance is helpful when excessive scar tissue is present. Topical mitomycin-C minimizes post-operative scarring. The cartilaginous septum is left intact. RESULTS: 2-4-year clinical and endoscopic follow-up on all children revealed a widely patent nasal airway with no complications (epistaxis, crusting, or re-stenosis). Synechiae or re-stenosis did not occur as circumferential mucosal stripping was avoided. No stenting was needed since the bony septum is removed. CONCLUSION: Near total endoscopic removal of the bony septum provides long-term nasal patency for revision CA/stenosis repairs. The endoscopic 'common choanae' technique is aided by transnasal and transoral telescopic visualization with precise microdebrider removal of the bony septum. The technique is safe with no complications in our case series.