With fewer than 100 peer-reviewed cases reported in the world to date, the underlying etiology of torpedo maculopathy has remained elusive. In this literature review, we provide new evidence to better support, reject and unify claims regarding cause, diagnosis, and proper clinical management of this disease. We reviewed 44 case reports and case series, which included 77 patients (after exclusions). We additionally introduced 3 new cases from our clinical practice for a total of 80 cases. Ages at presentation ranged from 6 months old to 73 years old (mean: 24.2 years old). The nasal aspects of torpedo maculopathy lesions pointed toward the optic disc and localized to a kite-shaped region of the temporal macula, correlating with the anatomic junction of the superior arcuate, inferior arcuate, and papillomacular bundles of retinal nerve fiber layer distribution. No patterns were observed among the temporal aspects of the lesions. These findings support a congenital etiology of torpedo maculopathy and a possible influence of the retinal nerve fiber layer in the development of mature retinal pigment epithelium.
by
Malini Veerappan;
Abdul-Karim M. El-Hage-Sleiman;
Vincent Tai;
Stephanie J. Chiu;
Katrina P. Winter;
Sandra S. Stinnett;
Thomas S. Hwang;
G Baker Hubbard;
Michelle Michelson;
Randall Gunther;
Wai T. Wong;
Emily Y. Chew;
Cynthia A. Toth
Purpose Structural and compositional heterogeneity within drusen comprising lipids, carbohydrates, and proteins have been previously described. We sought to detect and define phenotypic patterns of drusen heterogeneity in the form of optical coherence tomography–reflective drusen substructures (ODS) and examine their associations with age-related macular degeneration (AMD)–related features and AMD progression. Design Retrospective analysis in a prospective study. Participants Patients with intermediate AMD (n = 349) enrolled in the multicenter Age-Related Eye Disease Study 2 (AREDS2) ancillary spectral-domain optical coherence tomography (SD OCT) study. Methods Baseline SD OCT scans of 1 eye per patient were analyzed for the presence of ODS. Cross-sectional and longitudinal associations of ODS presence with AMD-related features visible on SD OCT and color photographs, including drusen volume, geographic atrophy (GA), and preatrophic features, were evaluated for the entire macular region. Similar associations were also made locally within a 0.5-mm-diameter region around individual ODS and corresponding control region without ODS in the same eye. Main Outcome Measures Preatrophy SD OCT changes and GA, central GA, and choroidal neovascularization (CNV) from color photographs. Results Four phenotypic subtypes of ODS were defined: low reflective cores, high reflective cores, conical debris, and split drusen. Among the 349 participants, there were 307 eligible eyes and 74 (24%) had at least 1 ODS. The ODS at baseline were associated with (1) greater macular drusen volume at baseline (P < 0.001), (2) development of preatrophic changes at year 2 (P = 0.001–0.01), and (3) development of macular GA (P = 0.005) and preatrophic changes at year 3 (P = 0.002–0.008), but not development of CNV. The ODS at baseline in a local region were associated with (1) presence of preatrophy changes at baseline (P = 0.02–0.03) and (2) development of preatrophy changes at years 2 and 3 within the region (P = 0.008–0.05). Conclusions Optical coherence tomography–reflective drusen substructures are optical coherence tomography–based biomarkers of progression to GA, but not to CNV, in eyes with intermediate AMD. Optical coherence tomography–reflective drusen substructures may be a clinical entity helpful in monitoring AMD progression and informing mechanisms in GA pathogenesis.
Purpose: To report results of aflibercept therapy in eyes with neovascular age-related macular degeneration previously treated with bevacizumab, ranibizumab, or both.
Design: Retrospective, interventional, noncomparative, consecutive case series.
Methods: Ninety-six eyes from 85 patients with neovascular age-related macular degeneration who previously had received bevacizumab, ranibizumab, or both were treated with aflibercept monthly for 3 months followed by a fourth injection within 2 months. Outcomes were determined 4 ± 1 months after the first aflibercept dose and included: proportion of patients gaining or losing 2 lines or more of best-corrected visual acuity, proportion remaining within a gain or loss of 1 line, mean change in logarithm of the minimal angle of resolution visual acuity, mean change in central foveal thickness, mean change in macular cube volume, and qualitative anatomic response as assessed by spectral-domain optical coherence tomography.
Results: At baseline, 82 (85%) eyes had signs of active exudation despite a mean of 17 previous anti-vascular endothelial growth factor injections. At final visit, 82 (85%) remained stable within a gain or loss of 1 line, 7 (7%) gained 2 lines or more, and 7 (7%) lost 2 lines or more of best-corrected visual acuity. Mean logarithm of the minimal angle of resolution visual acuity showed minimal change 0.02 (range, -0.46 to 0.70; P =.14). Mean central foveal thickness decreased -18 μm (range, -242 to 198 μm; P =.06). Mean macular volume decreased -0.27 mm3 (95% confidence interval, -0.4 to -0.1 mm3; P =.004). On qualitative analysis, 4 (5%) eyes had complete resolution of exudative fluid, 40 (49%) showed partial resolution, 26 (32%) remained unchanged, and 12 (14%) showed worsened exudative fluid.
Conclusions: Aflibercept seems to be an effective alternative for neovascular age-related macular degeneration patients previously treated with bevacizumab, ranibizumab, or both at 4 months of follow-up. Most treated eyes demonstrated stable visual acuity and anatomic improvements by spectral-domain optical coherence tomography.
Purpose
The purpose of this study was to characterize the peripheral retinal findings in highly myopic young children without other known risk factors for retinal detachment.
Methods
A retrospective review of all cases of children ≤10 years of age with high myopia (>6.00 diopters) who were evaluated for presumed risk of retinal detachment by either an examination under anesthesia or office examination by a single retina specialist from January 2001 through December 2008. Patients with regressed retinopathy of pre-maturity, retinal detachment in the fellow eye, or known Stickler syndrome were excluded.
Results
Fifty-four eyes of 30 patients with high myopia were examined. Twenty-six eyes of 14 patients were examined under anesthesia because of the examiner’s inability to adequately visualize the peripheral retina during an office examination. Mean age at examination was 6 ± 3 (range, 1–10) years. Mean spherical equivalent refractive error was −13.88 ± 3.79 (range, −6.00 to −25.00) diopters. Peripheral retinal findings were identified in 33% of eyes, the most common being lattice degeneration (20%), white without pressure (11%), and retinal holes with subretinal fluid (4%).
Conclusion
Approximately one third of highly myopic children in our study showed peripheral retinal findings. If the peripheral retina is not adequately visualized during an office evaluation, examination under anesthesia should be considered.
Purpose: To report the outcomes after cataract extraction in eyes previously treated for retinoblastoma.
Methods: We reviewed the medical records of consecutive patients treated with cataract extraction at our institution for radiation-induced cataract following retinoblastoma treatment between 1992 and 2007.
Results: Twelve eyes of 11 patients were included. The median age at diagnosis of retinoblastoma was 7.4 months. The median quiescent interval before cataract surgery was 34.6 months (range: 17 - 240 months). All patients underwent limbal-based extracapsular cataract extraction with scleral-tunnel wound construction. Anterior vitrectomy and posterior capsulotomy were performed in seven eyes; an intraocular lens was placed in 10 eyes. A laser capsulotomy was subsequently performed in five eyes. No postoperative complications occurred. One patient underwent a vitrectomy for vitreous hemorrhage five years after cataract extraction. The median follow-up after surgery was 6.01 years (range: 1.1 - 12.3 years). Final visual acuity was between 20/20 and 20/60 in six eyes, between 20/70 and 20/200 in two eyes, and worse than 20/200 in four eyes. Every patient with documented preoperative vision (10 eyes) had improved vision at final examination. No intraocular recurrences or metastases occurred. Two patients developed secondary rhabdomyosarcomas, one of whom succumbed to their disease.
Conclusions: Limbal-based cataract extraction in our series was not associated with tumor recurrence or metastasis. The optimal quiescent interval is not known, however, no tumor recurrences occurred in our series when a minimum 17 month quiescent period was achieved. Visual improvement was noted in every patient, although several patients only experienced modest gains.
Myeloid sarcoma (MS) is an extramedullary tumour of immature myeloblasts associated with leukaemias. MS commonly presents after diagnosis of active leukaemia, during a recurrence, or as a blastic transformation of myelodysplastic syndrome. Rarely, MS arises de novo. Here, we describe a case of MS presenting de novo with a white anterior chamber infiltrate.
Objective
To describe the clinical features and imaging characteristics in unilateral acute idiopathic maculopathy (UAIM).
Methods
This is a retrospective review of four patients diagnosed with UAIM. Clinical characteristics (age, symptoms, Snellen visual acuity (VA), and funduscopic features) and images from spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF), fluorescein (FA), and indocyanine green (ICG) angiography were analyzed.
Results
The median age at presentation was 31 years (range 27–52 years). The median interval between symptom onset and presentation was four weeks (range 1–20 weeks). Associated systemic findings included a viral prodrome (50%), orchitis (50%), hand-foot-mouth disease (25%), and positive Coxsackie virus titers (50%). The median presenting VA was 20/400 (range 20/70–1/400), which improved to 20/30 (range 20/20–20/60) at final follow-up. The median follow-up time was 6 weeks (range 0–8 weeks). Early in the disease course, the central macula developed irregular, circular areas of white-grey discoloration. Following recovery, the macula had a stippled retinal pigment epithelium characterized by rarefaction and hyperplasia. FA demonstrated irregular early hyperfluorescence and late subretinal hyperfluorescence. SD-OCT showed a partially reversible disruption of the outer photoreceptor layer. FAF initially revealed stippled autofluorescence that eventually became more hypoautofluorescent. ICG showed “moth-eaten” appearing choroidal vasculature, suggestive of choroidal inflammation.
Conclusions
The imaging characteristics highlight the structural changes during the active and resolution phases of UAIM. The visual recovery correlates with structural changes and suggests that the pathogenesis involves inflammation of the inner choroid, retinal pigment epithelium, and outer photoreceptor complex that is partially reversible.
Purpose of review
The surgical management of ROP continues to employ a paradigm of peripheral laser followed by vitrectomy for patients who develop retinal detachment. This review addresses significant advances that have been made in our understanding of the indications, timing, techniques, and outcomes of these interventions.
Recent findings
The indications for laser are highly dependent upon the diagnosis of plus disease. Recognition of plus disease is variable and subjective. Efforts are underway to develop more objective measures of plus using image analysis software. Intravitreal injection of bevacizumab is emerging as an adjunct to laser for aggressive posterior ROP. While vitrectomy for retinal detachment is effective in eyes without plus, management of eyes with retinal detachment and persistent plus continues to be a major challenge. Older children with regressed ROP may suffer from vitreous hemorrhage in the absence of retinal tears, detachments, or active neovascularization.
Summary
Our understanding of the best indications, timing and techniques for the surgical management of ROP continues to evolve and outcomes have improved in recent years. Areas that generate significant ongoing interest and investigation include the assessment of plus disease and the use of adjuncts for aggressive posterior ROP.
Retinoblastoma is the most common primary intraocular tumor of childhood and may be heritable or occur sporadically. Anterior diffuse retinoblastoma is an uncommon variant that is thought to be sporadic. We describe a child with anterior diffuse retinoblastoma who presented with a pseudohypopyon. Genetic analysis showed a germline mutation of the RB1 allele that is potentially heritable. Immunofluorescence staining was positive for transforming growth factor β and for vascular endothelial growth factor and negative for inducible nitric oxide synthase and for hypoxia inducible factor α in the tumor seeds, indicating acquisition of nonischemia-mediated survival factors of the tumor seeds in the aqueous humor.