BackgroundOcular adnexal IgG4-related sclerosing disease (IgG4-SD) has been categorized as a novel disease entity. It is characterized by stromal sclerosis and an infiltration of mass-forming lymphoplasmic cells containing many IgG4-positive plasma cells. Although ocular adnexal tissue involvement has been increasingly reported, a focal nodular sub-brow mass is not typical in an IgG4-SD presentation. We report a rare case of probable ocular adnexal IgG4-SD that clinically mimicked eyelid pilomatrixoma.Case presentationA 42-year-old woman presented with a nodular mass in her left sub-brow area. The initial clinical impression of her lesion was eyelid pilomatrixoma. However, the final pathologic diagnosis was IgG4–SD, but extranodal marginal zone B-cell lymphoma could not be excluded. The patient underwent testing to determine tumor malignancy and systemic IgG4-SD involvement. Laboratory testing showed normal IgG and IgG4 serum levels and imaging revealed no remarkable findings. Oral prednisolone was administered and slowly tapered to manage the possible remnant lesion and to prevent disease recurrence. Two years after initiating therapy, there was no evidence of relapse. The patient is under close surveillance for signs of recurrence, systemic involvement, and potential malignant transformation.ConclusionsWe found an unusual case of probable ocular adnexal IgG4-SD, which presented as a unilateral restricted mass involving the sub-brow area. Although the mass was surgically removed, systemic steroid treatment and long-term surveillance were initiated due to the possibility of recurrence, the potential association with systemic disease, and the potential development of extranodal mucosa-associated lymphoid tissue (MALT) lymphoma.

BackgroundNeurofibromatosis 1 (NF1) is a common disease that mainly affects the skin and peripheral nervous system, and is characterized by bony dysplasia. Primary congenital glaucoma (PCG) is a sight-threatening disease that can manifest as a prodrome of NF1, especially in newborn babies. We report a case of PCG with NF 1.Case presentationA 1-month-old boy presented with an enlarged right eyeball. An increased IOP and typical glaucomatous optic neuropathy were found, on the initial physical examination, a clinical diagnosis of primary congenital glaucoma (PCG) was made and a trabeculectomy with mitomycin C (MMC) therapy was subsequently performed. Three year later, the boy again presented with an even larger right eye and a gradually expanding left one. In addition to typical glaucomatous optic neuropathy, the boy also had multiple café au lait patches all over his body, megacephaly (head circumference = 60 cm; body weight = 14 kg; height = 93 cm) and remarkable facial features included swollen, soft upper eyelids and a flat, broad nose sphenoid wing dysplasia, eyelid thickening, bony orbit enlargement were found.ConclusionsIt is rare have both PCG and NF1, and PCG may be a prelude to NF1. Continuous follow-up should be advised and we should raise our awareness of the combined condition and to improve chances for an early diagnosis.

BackgroundWe report a case of a HLA-B27 negative patient presenting with severe, bilateral, idiopathic acute anterior uveitis with acute hypotony and hypotony maculopathy as their first uveitic episode.Case presentationWithin a week of onset of her first episode of acute anterior uveitis, a 45 year-old Caucasian lady developed profound ocular hypotony with unrecordable intraocular pressures, reduced vision and choroidal folds. All investigations were negative. Uveitic hypotony responded slowly to corticosteroids – intravenous, oral and topical – with normalization of intraocular pressure and resolution of choroidal folds after two months. Anterior uveitis and hypotony have not returned with six months of follow-up.ConclusionBilateral, profound hypotony maculopathy may present acutely in idiopathic acute anterior uveitis, may be slow to respond to treatment and should be considered as a cause of vision loss in patients with this condition.

BackgroundTo report the diagnostic features and management strategy of a rare case of Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction.Case presentationA patient presented with advanced glaucoma with an intraocular pressure of 49 mmHg in the left eye, and subsequently received trabeculectomy to control the intraocular pressure. Surprisingly, slit lamp examination through the dilated pupil revealed a dislocated microspherophakic lens almost touching the corneal endothelium. A microspherophakic lens was confirmed by anterior segment optical coherence tomography. Weill-Marchesani syndrome was then diagnosed by ocular examinations, and was accompanied by systemic abnormalities, including brachymorphia and brachydactyly. Corneal endothelial microscopy showed severe corneal endothelial dysfunction, and lens extraction and intraocular lens implantation were subsequently performed to prevent further endothelial damage. At the 1-year follow-up visit, the patient had well-controlled intraocular pressure, transparent cornea, and normal anterior chamber depth, while the intraocular lens remained correctly in place.ConclusionsWeill-Marchesani syndrome could be diagnosed by microspherophakia, high myopia, secondary glaucoma, and systemic abnormalities such as brachymorphia and brachydactyly. Removal of the microspherophakia is recommended to control intraocular pressure and improve vision. Advanced glaucoma in Weill-Marchesani syndrome should be treated with combined glaucoma surgery and lens extraction.

BackgroundTo evaluate clinical outcomes of Descemet’s Stripping Automated Endothelial Keratoplasty (DSAEK) for severe bullous keratopathy that develop as a late complication of endothelial injury to the baby during forceps delivery at birth.Case presentationsFour eyes (four patients; mean age, 51.5 years) with severe bullous keratopathy as a late complication of forceps delivery at birth were enrolled. All patients had amblyopia from childhood due to cloudy cornea. Nontheless, DSAEK was indicated in these patients for the irritation and severe light sensation caused by apparent bullous change of the injured cornea. All patients underwent DSAEK and two patients had simultaneous cataract surgery. Intraoperative and postoperative complications were recorded. Postoperative donor endothelial-cell densities (ECDs) were measured prospectively at six and 12 months and compared with preoperative values. Best corrected visual acuity (BCVA) was measured at 6 and 12 months postoperatively. All cases required corneal epithelial removal; two cases with simultaneous cataract surgeries required lens anterior capsule staining by trypan blue and illumination of the cornea for visualization. There were no cases of graft dislocation or primary graft failure. Mean BCVA improved from 0.06 to 0.15 at 6 months and to 0.38 at 12 months. Postoperative ECD was 2270 cells/mm2 (mean loss, 24.4 %) at 6 months and 2130 (mean loss, 29.1 %) at 12 months. Postoperative intraocular pressure elevation was observed in two cases, and a rejection episode occurred in one case at 4 months postoperatively.ConclusionsIn this case series, the clinical outcome of DSAEK for severe bullous keratopathy after forceps delivery was fair with rapid corneal clearance, which was comparable to uncomplicated cases. Cataract and DSAEK surgery was safely performed using techniques including epithelial removal, lens anterior capsule staining and illuminating the cornea, which enabled better visualization of the anterior chamber.

BackgroundThe pathogenesis of macular hole formation is widely accepted as a tractional force at the vitreo-retinal interface in fovea. We report a case of macular hole after intravitreous aflibercept injection for age-related macular degeneration (AMD) associated with contraction of the retinal pigment epithelium (RPE) at the edge of a fibrovascular pigment epithelial detachment (PED).Case presentationA 94-year old man with neovascular AMD affecting his left eye accompanied by a fibrovascular PED was examined for severe vision loss. Although RPE tear in his left eye was identified before the first aflibercept intravitreous injection performed in order to treat neovascular AMD, he received three aflibercept injections as induction treatment. After induction treatment, a full thickness macular hole was identified associated with the contracted rolled RPE edge beneath the retina.ConclusionMacular hole is commonly formed associated with tangential vitreous traction. Current report suggests that rapid contraction of the RPE underneath the retina can be one of the causes of a macular hole, and one of the side effects of anti-VEGF therapy for neovascular AMD.