OPTIC DISK PIT ASSOCIATED WITH AN UNUSUAL OUTER RETINAL HOLE AND NASAL PERIPHERAL RETINOSCHISIS.

PURPOSE: To document a peculiar case of optic disk pit-associated maculopathy with extensive nasal retinoschisis with lamellar outer retinal hole. METHODS: A 41-year-old woman presented to the eye clinic complaining of new photopsias and enlargement of the blind spot in the left eye. Uncorrected visual acuity was 20/20 in both eyes. Fundus examination of the left eye revealed an anomalous appearing optic nerve with a gray oval depression at the temporal margin of the disk consistent with an optic disk pit. RESULTS: Optical coherence tomography confirmed the presence of the pit and demonstrated outer plexiform layer schisis superonasal to the fovea and extensive inner and outer retinal schisis nasal to the nerve extending to the equator. A large lamellar outer retinal hole was noted nasal to the disk without associated retinal detachment. The vitreous appeared to be attached over the nasal retina. CONCLUSION: Multimodal imaging revealed an unusual optic disk pit-associated retinopathy with dramatically more extensive retinoschisis and a lamellar outer retinal hole nasal to the nerve despite the temporal location of the pit. Although the precise pathophysiologic mechanisms are not fully understood, forces associated with the vitreo-retinal adhesion may have contributed to the distribution of the schisis in this case.

MULTIMODAL IMAGING OF CRB1 RETINITIS PIGMENTOSA WITH A PERIPHERAL RETINAL TUMOR.

PURPOSE: To report the multimodal imaging findings of a patient with gene- crumbs 1 -associated retinitis pigmentosa (RP) characterized by preservation of para-arteriolar retinal pigment epithelium and a peripheral retinal tumor. METHODS: A 27-year-old woman was referred to our center because of progressive decreased vision in both eyes with a diagnosis of gene- crumbs 1 -associated RP. Fundus examination was remarkable for attenuated retinal vessels and bone spicule migration that was bilateral and symmetric. In addition, an elevated yellow-white mass with dilated retinal vessels was noted in the superotemporal midperiphery of the retina in the left eye without any associated exudation. RESULTS: Diffuse retinal pigment epithelium mottling was present but spared the area along the retinal arterioles. Swept-source optical coherence tomography showed diffuse outer retinal atrophy. Optical coherence tomography angiography of the peripheral lesion illustrated extensive vascularity and a possible retinal feeder vessel communicating with the tumor at its inferior margin. The phenotype of the lesion showed overlap with a vasoproliferative tumor or an astrocytic hamartoma. Over a period of 5 years of follow-up, the peripheral tumor was unchanged. No significant progression of the peripheral retinal degeneration was evidenced by autofluorescent imaging over this time period although the central acuity continued to decrease. CONCLUSION: Gene- crumbs 1 -associated RP may be characterized by preservation of the para-arteriolar retinal pigment epithelium and slow progression and may also feature a benign peripheral retinal tumor.

Long-term follow-up of perifoveal exudative vascular anomalous complex treated with intravitreal injections of anti-vascular endothelial growth factor and thermal laser photocoagulation.

PURPOSE: To describe the long-term follow-up of a patient with perifoveal exudative vascular anomalous complex (PEVAC) treated initially with intravitreal injections of anti-vascular endothelial growth factor (VEGF) followed by focal thermal laser photocoagulation. OBSERVATIONS: A 78 years-old man presented with large, soft drusen in both eyes. Optical coherence tomography and fluorescein angiography revealed the presence of PEVAC in the left eye. The patient was in good general health with no history of diabetes and had no signs of other retinal vascular disease. During the follow-up, the intraretinal fluid accumulation progressively increased and the best-corrected visual acuity (BCVA) dropped from 20/20 to 20/30 over a period of 33 months. As the intraretinal fluid continued to increase and BCVA further decreased to 20/50 despite two intravitreal injections of anti-VEGF, the patient underwent focal thermal laser photocoagulation with a reduction in intraretinal fluid observed 1 month later. Two months after laser, the BCVA increased to 20/25 with complete reabsorption of the intraretinal fluid. Ten months after laser, the BCVA remained stable at 20/25 with no recurrence of intraretinal fluid. CONCLUSIONS AND IMPORTANCE: This case illustrates that a PEVAC lesion may remain non-exudative for an extended period of time, but when exudation develops, anti-VEGF therapy may be ineffective requiring the use of thermal laser photocoagulation.

Short-term outcomes following treatment of recalcitrant cystoid macular edema secondary to radiation maculopathy using intravitreal brolucizumab.

PURPOSE: To assess the efficacy of intravitreal brolucizumab (Beovu®, Novartis Pharmaceuticals) in a case of recalcitrant cystoid macular edema associated with radiation maculopathy secondary to retinoblastoma which was suboptimally responsive to other intravitreal anti-vascular endothelial growth factor (VEGF) therapies. OBSERVATIONS: A 42-year old patient with a history of radiation maculopathy complicated by cystoid macular edema after chemoreduction treatment and radiation therapy for retinoblastoma was treated with intravitreal brolucizumab. Best-corrected visual acuity and central macular thickness assessed by optical coherence tomography were used to assess the clinical outcomes. The treated eye was also assessed for evidence of intraocular inflammation following injection. Cystoid macular edema showed marked reduction and near resolution two weeks after injection and improvement in best-corrected visual acuity which was maintained for 2 months of follow-up. No ocular inflammatory reactions or other adverse events were reported. CONCLUSIONS AND IMPORTANCE: This case of radiation maculopathy refractory to other intravitreal anti-VEGF treatments showed good treatment response to brolucizumab therapy.

Effect of aflibercept on refractory macular edema associated with central retinal vein occlusion.

OBJECTIVE: To report short-term visual and anatomic outcomes of patients who were switched to aflibercept for persistent macular edema associated with central retinal vein occlusion (CRVO). METHODS: Retrospective, consecutive, interventional case series of 17 patients with persistent macular edema secondary to CRVO (defined as intraretinal edema and either <50 µm reduction in central foveal thickness [CFT] or worsening or no improvement in visual acuity [VA] compared to baseline) despite anti-VEGF treatment who were switched to aflibercept treatment. Main outcome measures included VA, anti-VEGF treatment history, and spectral-domain optical coherence tomography evaluation of macular edema and CFT. RESULTS: The mean age was 77 years, and the mean VA at CRVO diagnosis was 20/135 with a CFT of 523.4 µm. Mean number of injections before switching to aflibercept was 12.9 (range: 3-40) and mean number of months of anti-VEGF treatment before switching to aflibercept was 18.7. Mean VA at switch to aflibercept was 20/182 (p = 0.50) with mean CFT of 547.9 µm (p = 0.66). Mean aflibercept injections were 4.0, and mean follow-up from switch to last follow-up was 5.2 months. Final mean VA was 20/115 (p = 0.017), with a CFT of 315.2 µm (p = 0.0012). Of the patients, 35.2% gained ≥3 lines. 29% of patients had complete resolution of macular edema, and the mean change in CFT was -233 µm. CONCLUSIONS: Aflibercept appears to have a beneficial effect on anatomic and VA outcomes in a subset of patients with macular edema secondary to CRVO that is refractory to treatment with bevacizumab and/or ranibizumab.

OUTCOMES OF RETINAL DETACHMENT REPAIR AFTER POSTERIOR OPEN GLOBE INJURY.

PURPOSE: To report outcomes of retinal detachment (RD) repair following posterior open globe injury. METHODS: This retrospective, consecutive case series examined patients who underwent RD repair following Zone II and/or III open globe injury repair between January 1, 2007 and October 31, 2013. Patients with <3 months of follow-up since their last vitreoretinal surgery, and those who underwent pars plana vitrectomy (e.g., for intraocular foreign body) during their initial open globe injury repair were excluded. RESULTS: Of 30 patients who met inclusion criteria, reattachment of the retina was achieved in 25 (83%) during the first vitreoretinal surgical procedure and 5 (17%) were deemed inoperable intraoperatively. Ten patients (30%) developed recurrent RD, and 8 underwent additional surgery. At last follow-up, reattachment was observed in 4 of these 8. The overall rate of final reattachment was 63% (19 patients). The mean number of surgeries for RD was 1.5 (range, 1-3). Fifteen patients (50%) achieved final visual acuity of counting fingers or better. Mean follow-up from the last vitreoretinal surgery was 23 months (range, 3-52). CONCLUSION: Although RD following posterior open globe injury confers a grave prognosis, successful anatomic reattachment of the retina was achieved in the majority of patients in this series, with half achieving ambulatory vision.

Quality and Diagnostic Utility of Mydriatic Smartphone Photography: The Smartphone Ophthalmoscopy Reliability Trial.

BACKGROUND AND OBJECTIVE: Establish quality and diagnostic utility of mydriatic smartphone ophthalmoscopy (SO) fundus images compared to fundus camera (FC) images. PATIENTS AND METHODS: In this prospective, cross-sectional study, 94 consecutive patients in an urban eye emergency department underwent SO and FC fundus imaging via one of three study arms: medical student 1 (MS1), medical student 2 (MS2), and ophthalmology resident (OR). Images of 188 eyes were graded for overall quality by two masked reviewers, and observed critical fundus findings were compared to dilated fundus examination documentation. RESULTS: SO images were higher quality in the OR arm than in the MS1 and MS2 arms (P < .017). There were no differences in FC image quality between photographers (all P > .328). In the OR arm, SO images detected 74.3% of critical fundus findings, whereas FC images detected 77.1%. CONCLUSION: SO produces fundus images approaching the quality and diagnostic utility of traditional FC photographs.

Bilateral Straatsma syndrome with nystagmus.

PURPOSE: This case report presents a rare case of bilateral Straatsma syndrome with nystagmus and documents additional findings related to spectral domain optical coherence tomography and ocular fundus images. METHODS: Case report with fundus photography, fluorescein angiography, indocyanine green angiography, and spectral domain optical coherence tomography correlations. RESULTS: A 22-year-old man presented with extensive bilateral myelination of the retinal nerve fiber layer that encompassed both posterior poles. The patient had concomitant ocular findings of high myopia, strabismus, amblyopia, and congenital nystagmus. CONCLUSION: This case describes an unusual presentation of Straatsma syndrome and investigates the clinical features of this disease. The patient's constellation of findings is most easily explained as bilateral myelination serving as the catalyst for the associated findings of myopia and nystagmus.

Efficacy of intravitreal ocriplasmin on vitreomacular traction and full-thickness macular holes.

PURPOSE: To analyze a single center's experiences with ocriplasmin on vitreomacular traction (VMT) and the rate of VMT release, full-thickness macular hole (full-thickness MH) closure, and best-corrected visual acuity (BCVA) changes. DESIGN: Retrospective interventional case series. METHODS: Single-center study of 58 eyes of 56 patients who received intravitreal ocriplasmin for VMT with or without full-thickness MH. VMT release, full-thickness MH closure, visual acuity changes, and anatomic characteristics on spectral-domain optical coherence tomography (SD OCT) were analyzed. RESULTS: VMT resolved in 29 of 58 eyes (50%) and nonsurgical closure of full-thickness MH was achieved in 4 of 15 eyes (27%). Mean logMAR BCVA among all treated eyes improved from 0.51 (20/65) at baseline to 0.36 (20/46) at final follow-up (P = .0018) with mean follow-up of 8.7 months. When compared to eyes without VMT release, eyes with successful vitreomacular release had a better pretreatment BCVA (20/48 vs 20/89, P = .004) and final follow-up BCVA (20/31 vs 20/68, P = .0001). Improvement in BCVA was significant in eyes with VMT release (P = .0001). Transient ellipsoid zone changes were noted in 26% of treated eyes (n = 15), of which 14 had successful VMT release. Transient subfoveal fluid accumulation was noted in all these patients with vitreomacular release. Mean time to resolution of ellipsoid zone changes was within 38 days. CONCLUSION: In clinical practice, intravitreal injection of ocriplasmin achieved VMT release in approximately one half of treated eyes, with a 27% closure rate for full-thickness MH. Transient ellipsoid changes were evident in 26% of treated eyes, more common in eyes with successful VMT release.

Ocular anomalies in an infant with Klinefelter Syndrome.

Klinefelter syndrome is caused by the presence of one or more additional X chromosomes in an affected male. Patients often exhibit gynecomastia, small testes, and infertility. Though the characteristics of Klinefelter have been well-documented, associated ocular abnormalities have been only occasionally reported. Here we present a 2-month-old infant with Klinefelter syndrome and a unique combination of ocular abnormalities including microphthalmia, cataracts, and malformed pupils.