Late surgery for unilateral persistent fetal vasculature: long-term visual and anatomic outcomes.

BACKGROUND: Persistent fetal vasculature (PFV) is a congenital anomaly caused by failure of the ocular vasculature to regress. We report the visual and anatomic outcomes in patients who underwent surgery for PFV between 7-48 months of age. METHODS: The medical records of patients who underwent lensectomy and anterior or core vitrectomy for unilateral PFV, with or without intraocular lens implantation, were reviewed retrospectively. Inclusion criteria were surgery between 7-48 months of age and at least 12 months of follow-up. Patients with severe posterior segment involvement were excluded. The primary outcome was the final visual acuity using age-appropriate tests converted to logMAR. Secondary outcomes included the rate of adverse events and number of subsequent intraocular procedures. RESULTS: A total of 20 patients with a mean age at surgery of 19.3 ± 10.5 months and mean follow-up of 73.7 ± 46.7 months were included. Sixteen patients had delayed surgery due to late presentation; the remaining 4 were managed initially with refractive correction and occlusion. Eight patients (40%) achieved a final visual acuity better than 1.0 logMAR. Four eyes had adverse events, including one retinal detachment. No patient developed glaucoma. Four eyes underwent subsequent procedures. CONCLUSIONS: In our study cohort, surgery for unilateral PFV between 7-48 months of age achieved functional visual acuity in over one-third of patients. This is comparable to results achieved with surgery before 7 months of age, but with fewer adverse events. Differences in disease severity could account for later PFV presentation and surgery as well as outcomes.

Unilateral ptosis and mydriasis secondary to presumed Lyme neuroborreliosis.

We report a case of unilateral acute-onset ptosis and mydriasis in a girl 2 years and 7 months of age from an area endemic for Lyme disease. She lacked other signs of oculomotor nerve palsy. She tested positive for Borrelia burgdorferi and negative for Bartonella henselae on serology and was diagnosed with Lyme neuroborreliosis. The ptosis and mydriasis resolved after 1 week of oral doxycycline.

Gamma Knife Stereotactic Radiosurgery for Conjunctival Squamous Cell Carcinoma Invading the Anterior Orbit: A Case Series.

INTRODUCTION: The aim of the study was to report our experience in the use of Gamma Knife Stereotactic Radiosurgery (GKSTRS) for conjunctival squamous cell carcinoma (SCC) invading the orbit, as an alternative to exenteration surgery. PATIENTS AND METHODS: Patients who had GKSTRS for conjunctival SCC invading the orbit but sparing the bone (AJCC eighth ed. T4a) with a minimum of 1-year follow-up were included. Treatment failure was defined as no decrease in tumour size 3 months post-treatment, or further growth during the follow-up period. Patients were followed up 3-monthly for 2 years and 6-monthly afterwards with a minimum of yearly MR Imaging of orbit. RESULTS: Six patients met the inclusion criteria. MR imaging was used to identify the extent of orbital involvement of SCC. Stereotactic radiosurgery utilizing the Leksell Gamma Knife® Perfexion was delivered in a single session in which patients received 18-20 Gy to the 45-50% isodose. The median follow-up was 29 months. Four patients responded to the treatment and had no evidence of recurrence at their most recent follow-up. The treatment failed in 2 patients, in 1 of whom the tumour was larger and extended deeper into the orbit. The other patient developed a recurrence away from the treated area at 9 months, suggesting a multifocal disease. Both patients had poorly differentiated SCC. CONCLUSION: GKSTRS is a potential alternative to orbital exenteration surgery for conjunctival SCC extending into the anterior orbit in a selected group of patients refusing orbital exenteration or has a second blind eye. Nevertheless, the disease is more likely to recur than with exenteration surgery, hence lifelong monitoring and low threshold for surgical intervention or retreatment is prudent.

Choroidal Metastasis Secondary to Testicular Mature Teratoma: A Case Report.

We report a case of a choroidal metastasis secondary to testicular mature teratoma, a subtype of non-seminoma germ cell tumours, in a young adult male. The choroidal metastasis was treated successfully with bleomycin, etoposide, and cisplatin chemotherapy without the need for adjuvant radiotherapy. This represents a rare case of mature teratoma metastasizing to the choroid and one of very few reported testicular germ cell tumours to achieve normal or near normal visual acuity with chemotherapy alone despite severe macular disease at presentation.

Computerized Tomography-Guided Core-Needle Biopsy of Orbital Space-Occupying Lesions: A Case Series.

PURPOSE: To describe our experience in performing biopsy of post-septal orbital masses with core needle under computerized tomography guidance (CT-CNB). METHODS: The medical records of all patients who underwent this procedure were reviewed. The procedure was performed under local anesthesia on a day case basis under a peribulbar block. A planning non-contrast computerized tomography (CT) scan of the orbits was performed to localise the mass. A 6-cm 18-G Temno Evolution® semi-automated biopsy needle was inserted through the skin into the orbit. Prior to further advancement of the needle, a low-dose CT limited to the previously determined plane was performed to confirm its position. The needle was then advanced, and the cutting needle was deployed to obtain the biopsy. RESULTS: Five patients who underwent CT-CNB were identified. The CNB was successful in 4 patients and revealed a metastatic prostate adenocarcinoma, diffuse large B-cell lymphoma, a metastatic neuroendocrine tumour, and orbital inflammatory disease. The biopsy failed in the fifth patient when the needle failed to penetrate the tumour despite good localisation on CT. He was eventually diagnosed with fibrous meningioma of the greater wing of sphenoid on open biopsy. None of the patients had any complications other than peri-ocular bruising which was present in all of them. CONCLUSION: CT-CNB of mass lesions located in the lateral aspect of the orbit can be an alternative to open biopsy in selected cases. It avoids major surgery and allows the use of radiotherapy, if required, without any delay.

Uveal Melanoma and Paraneoplastic Perivascular Dermal Melanocytic Proliferation in the Setting of Bilateral Diffuse Uveal Melanocytic Proliferation: The Potential Role of the Hepatocyte Growth Factor/c-Met Axis in Their Pathogenesis.

Two patients, with non-small cell lung carcinoma treated with pembrolizumab, developed bilateral diffuse uveal melanocytic proliferation (BDUMP) with interesting histopathological features. The first patient developed a right ciliary body mass concurrently with BDUMP. The globe was enucleated. The ciliary body mass was a mitotically active epithelioid uveal melanoma, invading the trabecular meshwork and peripheral corneal stroma, with over 90% of the cells expressing Cyclin D1 protein. The melanoma showed no chromosome 3 or 8 changes. The background uvea showed diffuse, bland spindle cell melanocytic proliferation with much lower Cyclin D1 expression (around 10%). In the choroid, this population was punctuated by islands of pigmented epithelioid cells, some of which were necrotic. All these islands expressed a high level of Cyclin D1, and some islands expressed nuclear preferentially expressed antigen in melanoma (PRAME). The ciliary body mass, epithelioid cell islands, and the BDUMP all expressed c-Met (the receptor for hepatocyte growth factor [HGF]). The features were those of ciliary body melanoma and choroidal melanoma "tumorlets," developing on a background of BDUMP. The second patient developed bilateral periocular skin pigmentation following a diagnosis of BDUMP, which when biopsied, showed dermal islands of paraneoplastic perivascular melanocytic cell proliferation. These cells also expressed c-Met protein. These observations implicate the HGF/c-Met axis in the pathogenesis of BDUMP, the uveal melanomas in the ciliary body and choroid in the first patient and the paraneoplastic dermal melanocytic proliferation in the second patient.

Primary acquired melanosis (PAM) without atypia/WHO low-grade conjunctival melanocytic intraepithelial lesion over areas of oculodermal melanocytosis.

An elderly white man with a history of left oculodermal melanocytosis presented with new onset brown pigmentation of the left bulbar and inferior tarsal conjunctiva. The bulbar conjunctival pigmentation was at the level of the conjunctival epithelium and was overlying areas of typical slate-grey scleral pigmentation characteristic of oculodermal melanocytosis. Both areas of new pigmentation were biopsied. The bulbar conjunctiva revealed primary acquired melanosis (PAM) without atypia with increased melanin production and the tarsal conjunctival biopsy showed PAM without atypia sine pigmentio overlying areas of substantia propria spindle-shaped heavily pigmented melanocytes of oculodermal melanocytosis. The case report examines the relationship between the epithelial and substantia propria melanocytes and correlates the findings with what is known about this association from the dermatopathology literature.

Long-term visual and anatomic outcomes following early surgery for persistent fetal vasculature: a single-center, 20-year review.

BACKGROUND: Persistent fetal vasculature (PFV) is a spectrum of congenital anomalies caused by complete or partial failure of the ocular fetal vasculature to regress. We report the visual and anatomic outcomes in a large cohort of patients who underwent early surgery for PFV. METHODS: We retrospectively reviewed the medical records of patients who underwent lensectomy and anterior or core vitrectomy for unilateral PFV without primary intraocular lens implantation through limbal or pars plana/plicata approach. Inclusion criteria were surgery prior to 7 months of age, with at least 12 months of follow-up. Eyes with severe posterior segment involvement and retinal detachment deemed beyond repair were excluded. RESULTS: A total of 58 patients met inclusion criteria. Mean age at surgery was 2.1 ± 1.5 months. Mean follow-up was 6.7 ± 4.2 years. At final follow-up, 19 eyes (33%) had visual acuity better than 1.0 logMAR. Thirty-three eyes (57%) developed 1 or more postoperative adverse events: glaucoma in 21 (36%) and retinal detachment in 11 (19%), 8 of which occurred in eyes that had pars plana or pars plicata incisions (P = 0.002). In patients with limbal incisions, 17 of 40 (43%) achieved a visual acuity better than 1.0 logMAR, compared with 2 of 18 patients (11%) with a pars plana/pars plicata incision (P = 0.03). CONCLUSIONS: In our study cohort, early surgery for PFV achieved functional visual acuity in about one-third of patients. Limbal approach to surgery may result in better visual acuity and anatomic results.

Neurofibromatosis Type 1: A Population-Based Study.

PURPOSE: To report the incidence, demographics, and clinical manifestations of neurofibromatosis type 1 among a population-based cohort of patients. METHODS: The medical records of all patients diagnosed as having neurofibromatosis type 1 while residing in Olmsted County, Minnesota, from January 1, 1980, through December 31, 2009, were retrospectively reviewed. RESULTS: Fifty patients were diagnosed as having neurofibromatosis type 1 during the 30-year period, yielding an incidence of 1.2 per 100,000 individuals. The mean age at diagnosis was 11.7 years (95% confidence interval [CI]: 0.2 to 47) and 26 (52%) were males. Twenty-eight patients were new mutations, yielding a de novo mutation rate of 56%. During a mean follow-up of 9.8 years (range: 3 weeks to 32 years), café-au-lait macules were diagnosed in 49 individuals (98%), neurofibromas in 26 (52%), and skeletal anomalies in 14 (28%). Three (5.9%) individuals were diagnosed as having glioma of the central nervous system (95% CI: 1.2 to 9.7%) at a mean age of 13 years (range: 5 to 26 years), including 1 patient with optic nerve glioma diagnosed at the age of 26 years. Only 1 (2%) patient was diagnosed as having malignant nerve sheath tumor. CONCLUSIONS: Although the prevalence and de novo mutation rate of neurofibromatosis type 1 in this population-based study were similar to prior reports, the occurrence of optic nerve gliomas was much lower. [J Pediatr Ophthalmol Strabismus. 2019;56(4):243-247.].

Dose Effect and Stability of Postoperative Cyclodeviation After Adjustable Harada-Ito Surgery.

PURPOSE: To report the dose-response relationship of adjustable Harada-Ito surgery, and postoperative stability of cyclodeviation. DESIGN: Retrospective cohort study. METHODS: Twenty patients underwent a unilateral adjustable Harada-Ito advancement of the anterior fibers of the superior oblique tendon, with or without resection. The surgical dose was calculated as resection plus advancement plus adjustment. Cyclodeviation was measured using double Maddox rods at preoperative and postoperative time points. We assessed dose effect by calculating change in cyclodeviation from preoperatively to postadjustment and evaluated the dose-response relationship by Spearman rank methods. Postoperative stability of cyclodeviation was assessed by comparing postadjustment measurements with 1-day and 6-week measurements, and also 1- and 5-year measurements, when available. RESULTS: Change in cyclodeviation from preoperatively to postadjustment ranged from 7 to 20 degrees of incyclo effect. There was a dose effect of 1.3 degrees per mm (rs = 0.52, P = .019). Postoperative incyclodeviation unwound a mean of 3.6 degrees ± 2.5 degrees between postadjustment and day 1. Overall change between postadjustment and the 6-week window was 6.5 ± 2.9 degrees in an excyclo direction. Unwinding continued with a mean change of 0.2 ± 2.6 degrees between the 6-week and 1-year windows, and of 0.4 ± 2.1 degrees between 1-year and 5-years windows. CONCLUSIONS: Adjustable Harada-Ito advancement of the anterior fibers of the superior oblique tendon has a dose response of 1.3 degrees per millimeter, but its effect regresses over time. Based on our data, an immediate postoperative target incyclodeviation of 7 degrees is reasonable.

Combined intraocular and systemic rituximab for ocular lymphoproliferative disorder with extranodal marginal zone lymphoma-type morphology after heart transplant.

Post-transplant lymphoproliferative disorder (PTLD) has rarely been associated with ocular manifestations. We report a case of bilateral ocular involvement by PTLD with histopathologic features of extranodal marginal zone (MALT) lymphoma in an 8-year-old boy following orthotopic heart transplantation. The anterior segment disease was treated successfully using a combination of intraocular and systemic injections of humanized anti-CD20 antibody (rituximab).

Adjustable Bilateral Superior Oblique Tendon Advancement for Bilateral Fourth Nerve Palsy.

PURPOSE: Bilateral fourth nerve palsy may be symmetric or asymmetric with combined vertical and excylotropic deviations and so there may be an advantage to independent adjustment of vertical and torsional components. We report a surgical technique that allows such independent adjustment. DESIGN: Retrospective interventional case series. METHODS: Fifteen patients, aged 17-73 years, underwent adjustable bilateral superior oblique tendon advancements for bilateral fourth nerve palsy: 11 symmetric (≤2 prism diopters [pd] hyperdeviation in straight-ahead gaze) and 4 asymmetric. Motor alignment was assessed with double Maddox rods and prism and alternate cover tests preoperatively, pre- and postadjustment, and 6 weeks postoperatively. RESULTS: Preoperative torsion ranged from 7 to 30 degrees excyclotropia (mean 17 ± 7 degrees) and hyperdeviation from 0 to 10 pd. Preadjustment torsion ranged from 5 degrees excyclotropia to 40 degrees incyclotropia, and hyperdeviation from 0 to 8 pd. Twelve of the 15 patients (80%) were adjusted to a target of 0 pd hyperphoria and 10 degrees incyclotropia (actual mean 9 degrees incyclotropia, range 2-13 degrees incyclotropia). At 6 weeks postoperatively there was expected excyclodrift (to mean 4 degrees excyclotropia, range 0 degrees incyclotropia to 15 degrees excyclotropia), but 13 (87%) had 5 degrees or less excyclotropia and 14 (93%) had 2 pd or less hyperdeviation. Mean torsional correction from preoperative to preadjustment was 31 ± 14 degrees (P < .0001), and from preoperative to 6 weeks was 13 ± 6 degrees (P < .0001). CONCLUSIONS: Adjustable bilateral superior oblique tendon advancement allows independent control of torsional and vertical components of the deviation, and therefore may be useful in cases of bilateral superior oblique palsy.