Faculty Bibliography

BACKGROUND:Choroideremia is an X-linked recessive disorder characterized by vision loss with progressive atrophy of the retinal photoreceptors, retinal pigment epithelium (RPE), and choriocapillaris. Ectodermal dysplasia is a heterogeneous group of disorders characterized by a deficiency of two or more ectodermal derivatives. We report on the phenotypic and genetic characteristics of a 29-year-old woman with both choroideremia and ectodermal dysplasia. MATERIALS AND METHODS/METHODS:Observational case report with physical and ophthalmic examination, fluorescein angiography (FA), visual field testing, electroretinography, and cytogenetic analysis. This study adhered to the tenets of the Declaration of Helsinki and The New York Eye and Ear Infirmary Institutional Review Board guidelines. RESULTS:Physical and ocular examination revealed hypotrichosis, hypohidrosis, full dentures, meibomian gland hypoplasia, and a decrease in corneal tear film. Visual acuity was hand motions in the right eye and 20/50 in the left eye. Fundus examination and fluorescein angiography were consistent with advanced choroideremia and revealed diffuse bilateral RPE and chorioretinal atrophy with sparing of the fovea. Visual field testing had less than 10-degree central islands in both eyes. Scotopic electroretinogram (ERG) was flat with a small flicker response. Cytogenetic analysis showed a complex translocation involving chromosomes X, 1, and 3: 46,X,t(X;1;3)(q13;q24;q21),inv(9)(p11q13). Selective inactivation of the normal X chromosome was present in blood and skin. Chromosomal analyses of the proband's family (mother and two brothers) were normal. CONCLUSION/CONCLUSIONS:An X-autosome chromosomal translocation combined with non-random inactivation of the normal X-chromosome in a woman resulted in the phenotypic findings of choroideremia and ectodermal dysplasia.

Silicone oil (SO) is a long-term intraocular tamponade used for a variety of retinal disorders. In aphakic eyes with an intact iris, the use of an inferior peripheral iridectomy prevents SO prolapse into the anterior chamber, thereby preventing glaucoma and keratopathy. We have developed a technique for preventing SO from entering the anterior chamber in aphakic eyes with iris loss. The technique involves placing 10-0 prolene sutures (SO retention sutures) across the anterior chamber to simulate an iris diaphragm. The sutures act as a barrier between the SO and aqueous, preventing SO-corneal contact. Images of this phenomenon were obtained by high-frequency ultrasound biomicroscopy with patients in the supine position. Silicone oil retention sutures may be an effective means to prevent SO-corneal touch in aphakic eyes with iris loss.

BACKGROUND:To use a new medium to dynamically visualize serial optical coherence tomography (OCT) scans in order to illustrate and elucidate the pathogenesis of idiopathic macular hole formation, progression, and surgical closure. CASE PRESENTATIONS/METHODS:Two patients at the onset of symptoms with early stage macular holes and one patient following repair were followed with serial OCTs. Images centered at the fovea and at the same orientation were digitally exported and morphed into an Audiovisual Interleaving (avi) movie format. Morphing videos from serial OCTs allowed the OCTs to be viewed dynamically. The videos supported anterior-posterior vitreofoveal traction as the initial event in macular hole formation. Progression of the macular hole occurred with increased cystic thickening of the fovea without evidence of further vitreofoveal traction. During cyst formation, the macular hole enlarged as the edges of the hole became elevated from the retinal pigment epithelium (RPE) with an increase in subretinal fluid. Surgical repair of a macular hole revealed initial closure of the macular hole with subsequent reabsorption of the sub-retinal fluid and restoration of the foveal contour. CONCLUSIONS:Morphing videos from serial OCTs are a useful tool and helped illustrate and support anterior-posterior vitreofoveal traction with subsequent retinal hydration as the pathogenesis of idiopathic macular holes.

PURPOSE/OBJECTIVE:The purpose of this study was to report recurrent hemolacria, or "bloody tears," as a sign of scleral buckle (SB) infection. METHODS:This is an interventional case series of three eyes of three patients with hemolacria after SB placement. RESULTS:Two men and one woman were treated for recurrent hemolacria after SB placement for a rhegmatogenous retinal detachment. Two patients had an encircling silicone sponge placed, one 6 years and the other 3 years before presentation. The third patient had a segmental solid silicone element placed 3 months before presentation. Two of the patients reported between 6 to 10 episodes of hemolacria occurring for "years" before referral and diagnosis. In all three patients, hemolacria originated from an occult conjunctival fistula overlying or adjacent to an exposed SB. Microbiological cultures grew Staphylococcus aureus in two eyes and polymicrobial growth in the other. Hemolacria resolved with explantation of the SB in two patients and with long-term continuous topical antibiotics in the other patient. CONCLUSION/CONCLUSIONS:Hemolacria can be a sign of a SB infection and should raise a high level of suspicion for the presence of an occult conjunctival fistula with exposure of the underlying scleral buckling element when frank exposure is not seen.

PURPOSE/OBJECTIVE:To report the effect of off-label use of bevacizumab (Avastin) in the treatment of choroidal neovascularization associated with a choroidal osteoma. METHODS:Interventional case report examining antivascular endothelial growth factor therapy used for choroidal neovascularization complicating a choroidal osteoma. RESULTS:A 24-year-old man with a choroidal osteoma presented with metamorphopsia and decreased vision in his left eye of 20/60. Clinical examination, fluorescein angiography, B-scan ultrasonography, and optical coherence tomography revealed a well-circumscribed macular choroidal osteoma with overlying subretinal hemorrhage and a choroidal neovascular membrane. The patient was treated with a series of 3 intravitreal bevacizumab (Avastin) injections (1.25 mg/0.05 mL) performed at baseline, 1 month, and 2 months. Treatment resulted in resolution of subretinal hemorrhage and fluid with improvement in visual acuity to 20/30 at the 5-month follow-up. CONCLUSION/CONCLUSIONS:Intravitreal bevacizumab seems to be a promising treatment for choroidal neovascularization (CNV) associated with choroidal osteomas.

PURPOSE: To evaluate the effectiveness and associated complications of Baerveldt glaucoma implant (BGI) surgery with pars plana tube insertion in aphakic and pseudophakic children. PATIENTS AND METHODS: The medical records of 30 patients (30 eyes) younger than 18 years old with uncontrolled glaucoma associated with aphakia or pseudophakia who underwent pars plana BGI surgery were retrospectively reviewed. Clinical outcome assessment included the measurement of intraocular pressure (IOP) and visual acuity and the identification of complications. Success was defined as 5 mm Hg<final postoperative IOP < or =21 mm Hg with or without glaucoma medications and without visually devastating complications or further glaucoma surgery. Outcomes were evaluated using Kaplan-Meier life-table analysis. RESULTS: Mean follow-up after BGI surgery was 29.8+/-26.4 months. Twelve, 24, and 36-month life-table rates for successful IOP control were 85%, 81%, and 72%, respectively. Six of 30 patients were considered failures. Complications included hypotony (5 patients, with 1 developing hemorrhagic choroidals which required surgical intervention and a second progressing to phthisis), retinal detachment (4 patients), tube obstruction (2 patients), pupillary membrane (1 patient), worsening esotropia (1 patient), focal scleral ectasia (1 patient), and loss of light perception (1 patient). Visually devastating complications were observed in 3 patients (hemorrhagic choroidals 1 patient, phthisis 1 patient, loss of light perception 1 patient). CONCLUSIONS: BGI surgery with pars plana tube insertion is a reasonable option for managing aphakic and pseudophakic children with uncontrolled glaucoma. Complications of BGI surgery related to anterior chamber tube placement, such as tube-cornea touch, are minimized with this approach. The incidence of posterior segment complications, although possibly higher compared with limbal tube insertion, was not excessive

AIMS/OBJECTIVE:To compare the safety and efficacy of 2 anti-vascular-endothelial-growth-factor agents - bevacizumab (Avastin) versus ranibizumab (Lucentis) - in the treatment of patients with neovascular age-related macular degeneration (AMD). METHODS:Retrospective analysis of patients who received intravitreal injections of bevacizumab or ranibizumab for neovascular AMD. Primary outcome measures were best-corrected visual acuity (BCVA) and central foveal thickness (CFT) assessed by Spectral Domain scanning laser ophthalmoscope-optical coherence tomography (SD-OCT). A secondary outcome measure was the report of any adverse events in the 2 groups. RESULTS:The number of injections in the bevacizumab group was 184 (average of 4.7 per eye) compared to 187 in the ranibizumab group (average of 5.5 per eye). The mean logMAR equivalent of BCVA at 1 month after the injection improved by 0.18 in the bevacizumab group (p = 0.009) and by 0.13 in the ranibizumab group (p = 0.004). The average SD-OCT CFT decreased from 325 + or - 72 to 300 + or - 69 microm in the bevacizumab group (p = 0.016) and from 307 + or - 57 to 289 + or - 56 microm in the ranibizumab group (p = 0.017). In the bevacizumab group, there was 1 event of lower extremity pain (0.54%) and 1 event of increased arterial blood pressure (0.54%). In the ranibizumab group, there were 2 events of transiently increased intraocular pressure (1.1%) and 1 event (0.53%) of intraocular inflammation following injection. CONCLUSIONS:Bevacizumab and ranibizumab treatments resulted in similar gains in visual acuity and reduction in macular thickness, documented each month following injection. Intravitreal bevacizumab appears to be as safe and effective as intravitreal ranibizumab in the treatment of exudative AMD.