Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid.

Infantile Refsum disease is a rare peroxisomal biogenesis disorder characterized by impaired alpha-oxidation and accumulation of phytanic acid in the tissues. Patients often present with fundus changes resembling retinitis pigmentosa, developmental delay, sensorineural hearing loss, ataxia, and hepatomegaly. Traditionally, mainstay treatment for this condition has been a phytanic acid-restricted diet, although supplementation with either docosahexaenoic acid or cholic acid has rarely been described in the literature. We present a case of infantile Refsum disease in a child with retinitis pigmentosa-like ocular findings, sensorineural hearing loss, and self-resolving hepatic disease, who developed novel findings of macular edema refractory to carbonic anhydrase inhibitors. We describe management with a phytanic acid-restricted diet and combination docosahexaenoic acid, and cholic acid therapy, which helped to limit progression of her disease.

CHALLENGES IN THE MANAGEMENT OF PRESUMED FUNGAL ENDOPHTHALMITIS IN PREGNANCY.

PURPOSE: To report a rare case of endogenous endophthalmitis in pregnancy and the challenges of managing culture-negative fungal infection. METHODS: Retrospective case report. A 30-year-old woman presented with a subfoveal chorioretinal lesion with vitritis and anterior chamber inflammation in the context of intravenous drug use. Spectral domain optical coherence tomography and fluorescein angiography were used for documentation and monitoring. RESULTS: After 2 months of systemic and intravitreal injections of amphotericin, the patient had clinical improvement in visual acuity, degree of inflammation, and in the size and activity of the chorioretinal lesion, which was presumed to be fungal in origin. CONCLUSION: Among limited cases of endophthalmitis in pregnancy, we report a challenging case of presumed fungal endogenous endophthalmitis. The patient responded favorably to intravitreal and systemic antifungal medications.

Scleral-Sutured Intraocular Lens Dislocations Secondary to Eyelet Fractures.

OBJECTIVE: To report clinical features and visual outcomes following eyelet fractures of scleral-sutured enVista MX60 (Bausch + Lomb) intraocular lenses (IOL). DESIGN: Retrospective, multi-center, multi-surgeon, observational case series. METHODS: Study Population: Patients with scleral-sutured enVista MX60 IOLs that experienced either an intraoperative or post-operative eyelet fracture associated with dislocation or subluxation. PROCEDURES: All records were reviewed for patients with a dislocated or subluxed scleral-sutured enVista MX60 IOL. Clinical features and outcomes were gathered. Main Outcome Measures: Clinical setting, surgical technique, complications, and visual acuity. RESULTS: A total of 25 scleral-sutured enVista MX60 IOLs displacements secondary to eyelet fractures in 23 eyes of 23 patients were included. There were 20 IOLs that sustained a postoperative fracture and 5 IOLs that sustained an intraoperative fracture. Of the postoperative fractures, 7 were dislocated and 13 were subluxed. Gore-Tex was the suture of choice for 19 of the postoperative fractures and all 5 of the intraoperative fractures, and Prolene was used for 1 postoperative fracture. The mean time until postoperative fracture was 96 ± 125 days, and the median time was 61 (IQR 48-144) days. Of the postoperative fractures, new MX60s were sutured in 10 patients, and 2 of them experienced repeat displacements due to a new eyelet fracture. In the intraoperative fracture group, new MX60s were sutured in 4 patients and an Akreos AO60 lens was placed in the 5th patient. The mean preoperative best-corrected logMAR visual acuity for all patients improved from 1.2 ± 0.8 (20/317 Snellen equivalent) to 0.5 ± 0.5 (20/63 Snellen equivalent) at most recent follow-up after lens replacement. CONCLUSIONS: Scleral-sutured MX60 intraocular lenses can experience intraoperative or postoperative eyelet fractures, resulting in lens subluxation or dislocation. Surgeons should be aware of this complication when evaluating secondary intraocular lens options.

Post-operative intracranial gas migration with optic nerve infiltration and atrophy following retinal detachment repair.

PURPOSE: To report a patient with post-operative gas migration into the optic nerve and lateral ventricles after retinal detachment repair. OBSERVATIONS: A 78-year-old pseudophakic man developed a temporal visual field cut in his non-operative, right eye 3 weeks after repair of a recurrent, shallow, macula-involving retinal detachment with perfluoropropane intraocular gas in the left eye. Visual acuity in the right eye measured 20/40, and static perimetry demonstrated temporal visual field loss that respected the vertical midline. Dilated fundus examination of the right eye was unrevealing for any retinal cause, raising suspicion for an intracranial etiology. An urgent CT scan of the brain demonstrated gas in all segments of the left optic nerve and lateral ventricles, consistent with intracranial gas migration along the optic nerve. Given the absence of systemic neurologic symptoms, cautious observation was advised on consultation with neuroradiology and neurosurgery, and follow-up CT scan 1 week later showed resolution of the intracranial gas. By 10-weeks post-operatively, vision returned to 20/20 in the right eye with persistent temporal field loss, and the left eye was hand motions (20/70 pre-operatively) with evidence of optic nerve atrophy and severe cupping. CONCLUSIONS: Intracranial gas migration is a rare complication of retinaldetachment repair with intraocular gas and may occur in the setting of structural defects of the optic nerve and high post-operative intraocular pressure. Clinicians should be alert to this rare but serious complication, which can cause neurologic symptoms and result in vision loss in both the operative and non-operative eyes.

Quantitative Ocular Ultrasound Findings in Microbial Keratitis-Associated Endophthalmitis.

PURPOSE: To assess how ocular ultrasound findings correlate with clinical parameters of patients with infectious keratitis and concern for endophthalmitis and to evaluate the usefulness of ultrasound in managing these patients. DESIGN: Retrospective study. PARTICIPANTS: Seventy-three eyes of 73 patients with microbial keratitis who underwent ultrasound to evaluate for endophthalmitis were included. METHODS: Ultrasound images were graded in a masked fashion independently by 2 retina specialists. The degree of vitreous opacities, defined as the largest area within the vitreous cavity occupied by opacities on any single image, were categorized as less than 10%, 10% to less than 50%, 50% to 90%, and more than 90%. The diagnosis of endophthalmitis was defined as severe intraocular inflammation that necessitated obtaining an intraocular culture sample and injection of intravitreal antimicrobials. The demographic and clinical characteristics of this patient cohort were compared. MAIN OUTCOME MEASURES: Vitreous opacities measured quantitatively on ocular ultrasound. RESULTS: The incidence of endophthalmitis in our patients with microbial keratitis who underwent ultrasound was 20.5%. Corneal and intraocular cultures showed positive results in 66.7% and 26.7% of endophthalmitis patients, respectively. A 4-fold increase in the likelihood of treatment for endophthalmitis was observed with increasing vitreous opacity severity (odds ratio, 3.97; confidence interval, 1.9-8.5; P < 0.0001). Endophthalmitis was associated with 50% or more vitreous opacities (P < 0.001), older age (P < 0.001), pseudophakia (P = 0.001), and hypopyon height (P < 0.001). Eye pain, eyelid edema, poor presenting visual acuity, larger corneal ulcer diameter, and causative organisms were not associated with endophthalmitis. CONCLUSIONS: Patients with more severe vitreous opacities on ultrasound were more likely to be treated for endophthalmitis. Patients with microbial keratitis, who were older and pseudophakic, were prone to have more severe vitreous opacities.

Orbital Diffuse Large B-Cell Lymphoma Initially Presenting as Neovascular Glaucoma.

Orbital lymphoma can result in rapid loss of vision if not diagnosed and treated in a timely manner. This patient presented with rapid visual loss and on examination had a rubeosis iridis with a hyphema as well as neovascular glaucoma with vitreous hemorrhage. His medical history included systemic diffuse large B-cell lymphoma and a workup ultimately revealed an orbital mass in the body of the optic nerve. Optic nerve biopsy demonstrated diffuse large B-cell lymphoma. To the authors' knowledge, neovascular glaucoma as the presentation of an extraocular diffuse large B-cell lymphoma has not been reported previously. Lymphomas of the orbit and its adnexa constitute roughly 1% of all non-Hodgkin lymphoma. Most cases are marginal-zone B-cell lymphomas, with the second most common being diffuse large B-cell lymphomas. Orbital lymphomas can rapidly progress to complete visual loss when not diagnosed early. The authors report a patient who presented with rapid visual loss due to hyphema, rubeosis iridis, neovascular glaucoma and vitreous hemorrhage secondary to orbital diffuse large B-cell lymphoma. Research methods were adherent to the ethical principles outlined in the Declaration of Helsinki as amended in 2013. The collection and evaluation of protected patient health information was Health Insurance Portability and Accountability Act compliant.The authors report a case of lymphoma metastatic to the optic nerve masquerading as neovascular glaucoma with vitreous hemorrhage.

Detection of Age-Related Macular Degeneration by Portable Optical Coherence Tomography Operated by Nonexpert Personnel: Potential Use for Screenings.

PURPOSE: The purpose of this study is to determine the sensitivity and specificity of detecting age-related macular degeneration (AMD) using portable optical coherence tomography (OCT) operated by nonexpert photographers on undilated patients. METHODS: In this case-control study, 92 individuals were recruited from the glaucoma and retina clinics at the Wilmer Eye Institute (Johns Hopkins University, Baltimore, MD). Using the portable iVue (Optovue, Inc, Fremont, CA) spectral-domain OCT (SD-OCT), 2 nonexpert photographers acquired retina map scans on undilated eyes of all participants. In total, 33 AMD eyes and 105 control eyes were evaluated and graded by ophthalmologists masked to the diagnoses. RESULTS: Detection of AMD on the portable OCT by ophthalmologists exhibited sensitivities of 0.91 and 0.94 and specificities of 0.88 and 0.89, for graders 1 and 2, respectively. A strong intergrader agreement was observed (κ = 0.87). CONCLUSIONS: Nonexpert photographers can use a portable OCT on undilated eyes to acquire images for the detection of AMD. These findings present the potential utility of implementing a portable OCT in community screenings for earlier detection and treatment of disease.

UTILITY OF ULTRA-WIDEFIELD RETINAL IMAGING FOR THE STAGING AND MANAGEMENT OF SICKLE CELL RETINOPATHY.

PURPOSE: To determine whether ultra-widefield (UWF) retinal imaging changes the staging or management of sickle cell retinopathy compared with clinical examination. METHODS: Prospective, observational study including patients with sickle cell disease. All patients underwent dilated fundus examination by a fellowship-trained retina specialist, as well as UWF fundus photography (FF) and fluorescein angiography (FA). Sickle retinopathy stage and treatment recommendation per eye were determined after clinical examination, UWF-FF, and UWF-FA, respectively, and differences in retinopathy stage and treatment recommendation were compared. RESULTS: A total of 70 eyes from 35 patients (17 women, 48.6%), mean age 30.4 years, were included. Sickle genotypes included 26 patients with sickle SS (74.3%), 7 SC (20.0%), and 2 ß(+)thalassemia (5.7%). Based on examination, most eyes (42/70; 60.0%) had no visible retinopathy. Based on UWF-FF, about half of the eyes were found to be Goldberg Stage 2 or above (36/70; 51.4%). Based on UWF-FA, nearly all eyes were Goldberg Stage 2 or above (63/70; 90%). However, clinical examination reliably detected neovascularization, and in no case did the addition of UWF imaging change management relative to examination alone. CONCLUSION: Ultra-widefield imaging detects a higher stage of sickle cell retinopathy compared with clinical examination alone, but these differences may not be clinically significant.

Disc-damage Likelihood Scale (DDLS) as a Clinical Indicator of the Presence of a Relative Afferent Pupillary Defect (RAPD).

PURPOSE: To evaluate clinical parameters and their relationship to the presence of a relative afferent pupillary defect (RAPD). MATERIALS AND METHODS: Retrospective chart review of 672 consecutive patients who presented to the Glaucoma Service at Wills Eye Hospital from January 1 through May 29, 2012. Swinging flashlight method (SFM) was used to test for RAPDs. Records of visual acuity, intraocular pressure (IOP), disc-damage likelihood scale (DDLS), cup/disc (C/D) ratio, visual field mean deviation (MD), optical coherence tomography (OCT), and Heidelberg retinal tomography (HRT) asymmetries were examined. We measured the prevalence of RAPDs as clinical asymmetries increase, calculated cut-off points for clinical asymmetries that optimized sensitivity and specificity in detecting RAPDs, and determined values of clinical asymmetries above which a RAPD always exists. RESULTS: Upon exclusion, we studied 409 patients, 175 (42.8%) with RAPDs and 234 (57.2%) without. Age, visual acuity, IOP, DDLS, C/D ratio, MD, retina nerve fiber layer thickness by OCT, HRT C/D, and HRT rim area asymmetries all correlated with RAPD status (OCT and HRT parameters did not include enough patients for multivariable analysis or cut-off determination). Multivariable analysis indicated that IOP, DDLS, and MD asymmetries were significantly correlated with RAPD status (P-value<0.05). Although the optimal cut-off values for the variables retained in the final multivariable model had low sensitivity and moderate specificity, DDLS had the highest specificity of 0.86. CONCLUSIONS: IOP, DDLS, and MD asymmetries had the best correlation with RAPD status, and increased asymmetries in these parameters were associated with higher likelihood of RAPDs. DDLS score had the highest specificity in predicting a RAPD, and DDLS asymmetry scores ≥6 identified all cases of RAPDs.