BackgroundTo describe the spectral domain optical coherence tomography (SD-OCT) findings of a patient who developed pigmentary retinopathy following high-dose deferoxamine administration.Case presentationA 34-year-old man with thalassemia major complained of nyctalopia and decreased vision following high-dose intravenous deferoxamine to treat systemic iron overload. Fundus examination revealed multiple discrete hypo-pigmented lesions at the posterior pole and mid-peripheral retina. Recovery was partial following cessation of desferrioxamine six weeks later. A follow-up SD-OCT showed multiple accumulated hyper-reflective deposits primarily in the choroid, retina pigment epithelium (RPE), and inner segment and outer segment (IS/OS) junction.ConclusionDeferoxamine retinopathy primarily targets the RPE–Bruch membrane–photoreceptor complex, extending from the peri-fovea to the peripheral retina with foveola sparing. An SD-OCT examination can serve as a simple, noninvasive tool for early detection and long-term follow-up.

BackgroundTo report engorged vessel occlusion after repeated intravitreal injections of bevacizumab to treat the macular oedema in a case of arteriovenous malformation.Case presentationA 37-year-old woman presented with a sudden, painless loss of vision in her left eye. Her visual acuity was 20/200 in the left eye, and 20/20 in the right eye. Ophthalmoscopic examination revealed an abnormal tangle of vessels and enlarged draining veins. A fluorescence angiogram revealed fluorescence leakage at a turn near the fovea. Horizontally oriented optical coherence tomography revealed an increased macular thickness and an accumulation of intraretinal fluid, indicating macular oedema. After three intravitreal injections of 1.25 mg bevacizumab, her vision improved to 20/20. Ophthalmoscopic examination revealed a decreased calibre of the previously engorged draining veins and ghost vessels. Repeated horizontally oriented optical coherence tomography revealed a decreased macular thickness and the absence of an intraretinal cyst. At the 2-year follow-up visit, the vision of the patient was stable.ConclusionThis finding implies that certain middle-size vessels can become occluded during anti- vascular endothelium growth factor (anti-VEGF) therapy, which could induce fatal complications if it occurred in the heart or brain. Clinicians should be cautious of the potential thrombotic effects on systemic blood vessels when administering anti-VEGF treatment.

BackgroundPupil dilation is a known risk factor for acute angle-closure glaucoma. Regular retinal evaluation is necessary for retinopathy of prematurity (ROP) cases. An acute attack of angle-closure glaucoma following pupil dilation in regressed ROP has never been reported.Case presentationA five-year-old girl presented to the hospital for a routine retina check-up. The patient was born prematurely with a gestation age of 27 weeks and a body weight of 980 grams. She had a history of stage 4A ROP in the right eye and received scleral buckling. After pupil dilation with 1 % tropicamide and 10 % phenylephrine for retinal examination, acute elevation of intraocular pressure (IOP) was observed in the right eye. Her IOP remained over 50 mmHg in the right eye even under treatment with oral acetazolamide and maximal tolerated doses of topical anti-glaucoma medications. Ultrasound biomicroscopy (UBM) showed that the angle in the right eye was closed 360 degrees circumferentially. In order to lower IOP, trabeculectomy with mitomycin C (0.2 mg/cc) was performed under general anesthesia. Postoperatively, the cornea became clear, the filtering bleb functioned well, and IOP returned to normal values. In the two-year follow-up, IOP was kept around 15 mmHg without anti-glaucoma medications. Although mild lens opacity was noted, her postoperative VA remained 20/200 in the right eye.ConclusionRegular retinal evaluation will be necessary for the increasing number of ROP cases to be seen in the future. Ophthalmologists should bear in mind that pupil dilation for a retina check-up could result in acute angle-closure glaucoma in ROP patients.

BackgroundKabuki syndrome is a multi-system disorder with peculiar facial features, and ophthalmic abnormalities are frequently involved. This case report of a child with Kabuki syndrome describes two new previously unreported ophthalmic conditions.Case presentationA 3-year-old Taiwanese boy with Kabuki syndrome had a short stature, spinal dysraphism, intellectual disability and typical facial features. Ophthalmic findings which have been previously reported in the literature and in this patient, included ptosis, esotropia, coloboma of the iris, retina, choroid and optic disc, and microcornea. The newly identified ophthalmic features in this patient included colobomatous microphthalmos and a dysplastic and elevated disc without central cupping. The genetic analysis identified an MLL2 gene mutation.ConclusionThe presentations of a dysplastic disc and colobomatous microphthalmia are rarely reported in patients with Kabuki syndrome, but these ophthalmic abnormalities may affect vision. Detailed ophthalmic evaluations in children with Kabuki syndrome are advised.