Extraocular muscle enlargement in retinoencephalofacial angiomatosis.

A 22-year-old female presented for evaluation of five years of progressive left exophthalmos and intermittent blurred vision. She had previously received laser treatment for peripheral retinal neovascularization and had undergone lip reconstruction for a left-sided congenital vascular facial malformation. Magnetic resonance imaging demonstrated diffuse enlargement of the left extraocular and temporalis muscles, with prominent vessels in the temporalis muscle and intraconal fat. Left fundoscopic examination revealed grossly enlarged, tortuous retinal vessels extending from the optic disc to the peripheral retina and an abnormal network of capillaries. On the basis of these findings, a diagnosis of retinoencephalofacial angiomatosis was established. Retinoencephalofacial angiomatosis is a rare, non-hereditary disorder associated with ipsilateral retinal, brain, and facial arteriovenous malformations. This is the first report, to the authors' knowledge, of retinoencephalofacial angiomatosis presenting with exophthalmos secondary to extraocular muscle enlargement.

Case Report: Management of Corneal Clouding from Lecithin: Cholesterol Acyltransferase Deficiency.

SIGNIFICANCE: Given that there are few reported cases of lecithin:cholesterol acyltransferase (LCAT) deficiency, recognition of the condition with proper management is notable. Long-term follow-up and contact lens fitting after penetrating keratoplasty provide best possible outcomes. PURPOSE: The purpose of this study was to report a case of LCAT deficiency successfully treated with penetrating keratoplasty and longer-term follow-up with contact lens fitting. CASE REPORT: A 43-year-old white woman of Italian descent presented with corneal clouding and trouble with night vision. The patient had a history of LCAT deficiency, irritable bowel syndrome, gastroesophageal reflux disease, osteoporosis, and hemolytic anemia. Slit-lamp examination demonstrated corneal haze throughout the corneal layers. The corneas had normal pachymetry. Given the opacity of each cornea (right greater than left) and decreased night vision, penetrating keratoplasty was performed on the right eye. At post-operative month 16, the corneal graft remained clear. The patient was able to achieve a best-corrected visual acuity of 20/30+ with a scleral lens. CONCLUSIONS: Penetrating keratoplasty may be necessary to provide better quality of vision in LCAT deficiency patients, specifically to enhance one's contrast sensitivity, despite relatively good Snellen visual acuity.

Correlation between clinical features, imaging and pathologic findings in recurrent solitary fibrous tumor of the orbit.

PURPOSE: To correlate clinical features, imaging and pathologic findings in recurrent Solitary Fibrous Tumor of the orbit (SFT) in order to predict long-term behavior. METHODS: Clinical features, imaging and pathologic findings of three patients with biopsy proven SFT are reported. Demographic and clinical features were recorded at presentation and at each consultation; imaging was performed as a diagnostic tool and for follow-up. A biopsy was performed at presentation and subsequently when symptoms worsened. Pathology specimens were reviewed retrospectively to corroborate diagnosis. Intraoperative and histopathologic features were recorded. A correlation was made between clinical, imaging and pathologic results to identify outcome predictors of recurrence, locally aggressive behavior and malignant transformation. RESULTS: All cases presented recurrent tumors with locally aggressive behavior over time. All were women in the fifth decade of life. Tumors induced proptosis, swelling of the lids and eye displacement at presentation and were diagnosed as other types of collagen-rich tumors before CD34 immunohistochemistry was available. Mean follow-up was 26.6 years (range 12-37). Relevant findings for all cases included a heterogeneous, irregular tumor containing cystoid spaces filled with mucoid material diffusely enhancing with imaging techniques. Intraoperative findings included a gelatinous matrix within the center of the tumor mass, which was not present at primary resection. Histopathology could not detect specific cellular patterns or immunological markers related to these changes. CONCLUSIONS: Recurrence and locally aggressive behavior was better predicted by imaging and surgical findings rather than histopathological characteristics. Cystoid degeneration in recurrent tumors may suggest malignant transformation over time.

Occult temporal arteritis in a 54-year-old man.

A 54-year-old white man with a remote history of pars planitis reported transient monocular visual loss (TMVL) in the left eye on standing. The following week he experienced multiple similar episodes. He denied associated systemic symptoms. Initial examination showed old peripheral retinal vascular sheathing and delayed retinal arterial filling time. Complete blood count, erythrocyte sedimentation rate, and MRI studies of the head and neck were normal. One week later, there were multiple cotton wool spots in the posterior pole, a relative afferent pupillary defect, and subtle visual field loss in the left eye. Evaluation for infectious, inflammatory, or embolic etiologies was nonrevealing. Biopsy of the prominent but nontender temporal arteries showed granulomatous inflammation, fragmentation, and duplication of the internal elastic lamina consistent with the temporal arteritis (TA). Radiography and MRI of the chest revealed dilation of the ascending aorta. The patient began treatment with high-dose oral steroids with resolution of his TMVL and retinal cotton wool spots and decrease in the size of the temporal arteries. Our case demonstrates the importance of considering TA in the setting of TMVL, visual loss, cotton wool spots, or dilated nontender temporal arteries in an otherwise asymptomatic patient even with normal inflammatory markers. Long-term follow-up is essential in unusual cases such as this one, given the high risk of ocular and systemic morbidity with TA.

Intraocular cilium masquerading as a parasite.

BACKGROUND: Among the many different intraocular foreign bodies (IOFBs), eyelashes represent an uncommon finding almost invariably associated with a history of penetrating trauma. The authors describe a woman who had no signs and denied any history of trauma with an odd-looking, whitish, worm-like IOFB eventually identified by pathologic analysis as a cilium. CASE REPORT: A 58-year-old lady complaining of floaters with mild loss of vision and redness presented to our institution. Slit-lamp examination revealed trace cells, while the fundus showed 1+ vitreous cells and the presence of a 3- to 4-mm-long, 0.3-mm-wide bright white "fluffy" wormlike object in the anterior vitreous. Medical history was unremarkable. The patient underwent pars plana vitrectomy with IOFB removal, and the specimen was sent for pathologic analysis that revealed the presence of a cilium encased in collagen fibers and mature adipose tissue. Vitreous cultures did not yield any pathogen. DISCUSSION: Eyelashes as IOFBs have been described in several reports and are invariably associated with penetrating trauma. Intraocular cilia with no apparent history of trauma have been rarely reported. Our patient had a very peculiar presentation because of the "fluffy" bright white "capsule" that although readily visible resembled a parasite more than a cilium. The presence of adipose tissue at the base of the cilium that may have been dragged with the eyelash at the time of penetration is also a matter of speculation.

Structural organization of choroidal colobomas of young and adult patients and mechanism of retinal detachment.

PURPOSE: In colobomatous eyes, the risk of retinal detachment increases with age. This study elucidates the anatomic conditions and pathologic process of retinal detachment associated with colobomas. METHODS: The records, including histologic slides, of 14 children (1 day to 17 months old) and 7 adults (17 to 78 years old) with colobomas were examined. RESULTS: In children, colobomas were associated with lethal malformations. The extracolobomatous inner retinal layers extended centrally, forming the intercalary membrane. Duplication of the outer retinal layers and a horizontal shift of Müllerian glia created a triangle and a locus minoris resistentiae adjacent to the laterally displaced pigment epithelium. Part of the locus was an incomplete layer of photoreceptors excluding Müllerian glia. In adults, atrophy of the intercalary membrane, manifested as central schisis, thinning of the neuroepithelium, and hole formation, was related to a paucity of blood vessels within and underneath the intercalary membrane and the size of colobomas. The margins featured blood vessels, pigment epithelial hypertrophy, and choroidal and scleral thickening in a compact, intertwined arrangement. CONCLUSIONS: Glial atrophy, schisis, and hole formation in the intercalary membrane and separation of the locus minoris resistentiae from the pigment epithelium can disrupt barriers to fluid flow and set the stage for rhegmatogenous retinal detachment. That process is exacerbated by scleral ectasia, increasing vitreous traction at the margin, and retinovascular ischemia within the intercalary membrane. A vascularized, compact margin resembling a laser barrier, found predominantly in adults, may protect against retinal detachment.