WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family.

PURPOSE: To report the clinical (anatomic and functional) and genetic findings of Wagner Syndrome (WS) in a Portuguese family. METHODS: Nine members of the family agreed to be examined. All had complete clinical eye examinations. The proband and selected patients underwent color fundus photography, spectral domain optical coherence tomography (SD-OCT), automatic static white-on-white computerized perimetry, and electrophysiology assessment (flash ERG, multifocal(mf) ERG and dark adaptometry). A pedigree was constructed based on interviews with known affected subjects. Genomic DNA samples derived from venous blood were collected from all affected family members examined. RESULTS: Twenty-eight family members are affected. This family has the typical features of Wagner Syndrome, namely an empty vitreous cavity with veils, mild myopia and cataract. Four examined patients underwent vitreoretinal surgery due to abnormal peripheral vitreoretinal adhesions with peripheral retinal traction (n = 3). Retinal detachment was observed in 5 of the examined subjects. Four of them occurred between the ages of 5 and 15 years. Chorioretinal atrophy is also a frequent finding which results in moderate to severe visual field and advanced rod-cone dystrophy from younger ages, also confirmed by absence of scotopic function on dark adaptation. The macular dysfunction on mfERG was profound and of early onset. A heterozygous mutation in intron 7 of the VCAN gene (c.4004-1G > A) was found. CONCLUSIONS: We described a rare autosomal dominant vitreoretinopathy with near complete penetrance in a Portuguese family. Abnormal peripheral vitreoretinal adhesions, retinal detachment and chorioretinal atrophy are present in most of the examined individuals at young ages. Early onset of advanced visual field and electrophysiologic abnormalities were observed in this family. We also added relevant information to the literature by reporting our experience in surgical management of Wagner Syndrome patients with, and at risk of, retinal detachment.

Acute transient myopia with shallowing of the anterior chamber induced by sulfamethoxazole in a patient with pseudoxanthoma elasticum.

PURPOSE: To report a case of acute transient myopia with anterior chamber shallowing induced by sulfamethoxazole in a patient with pseudoxanthoma elasticum (PXE). DESIGN: Observational case report. METHODS: A case report of a 45-year-old woman who presented with bilateral acute myopia, anterior chamber shallowing, and intraocular hypertension induced by sulfamethoxazole and was found to have PXE. Initial and follow-up examination findings were reviewed. RESULTS: On first examination, bilateral myopic shift of 4.25 D, bilateral narrowed angles, and ocular hypertension (36 mm Hg right eye and 38 mm Hg left eye) were found. Pentacam images documented the anterior displacement of the iris-lens diaphragm. Undilated fundus examination disclosed bilateral angioid streaks radiating from the papilla. Several redundant skin folds on the neck and axillae were found on external examination. With sulfamethoxazole discontinuation and administration of topical intraocular pressure-lowering drops, there was complete clinical resolution within 1 week. The diagnosis of PXE was confirmed by biopsy of the skin lesions. CONCLUSIONS: Acute myopia with angle narrowing is an extremely rare sulfamethoxazole side effect, and its relationship, if any, with PXE is unknown. As far as we know, this is the first reported case of PXE presenting with bilateral angle narrowing induced by sulfamethoxazole.