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Wolf-Hirschhorn syndrome (WHS) is a rare but recurrent microdeletion syndrome associated with hemizygosity of an interstitial segment of Chromosome 4 (4p16.3). Consistent with historical reports in which overlapping deletions defined a minimal critical region in WHS patients, recent reports from exome sequence analysis have provided further evidence that haploinsufficiency of a specific gene within this critical region, NSD2 ( WHSC1 ), is causal for many features of the syndrome. In this report, we describe three unrelated patients with loss-of-function alterations in NSD2 who presented clinically with WHS features including intrauterine growth retardation and global developmental delay. Two of the three patients also had overlapping features of failure to thrive, short stature, constipation, and hypotonia. This series adds additional cases to expand the phenotypic spectrum of WHS and reports novel NSD2 variants., (© 2019 Barrie et al.; Published by Cold Spring Harbor Laboratory Press.)

Purpose: To determine the visual outcome of retinal pigment epithelial detachment (PED) associated with central serous chorioretinopathy (CSC), to further characterize the natural history of these lesions, and to provide a review of previous reports., Participants: Data for 340 consecutive patients with a diagnosis of CSC from January 2001 through December 2004 were retrospectively reviewed. Patients with CSC combined with angiographic evidence of PED were included in the study., Main Outcome Measures: Age, sex, use of corticosteroid medications, presenting visual acuity, and final visual acuity were recorded. Lesion characteristics including location, number of lesions, and laterality were recorded. Clinical outcome measures included resolution or persistence of the PED, progression to retinal pigmentary atrophy, or development of choroidal neovascularization. Fluorescein angiograms were obtained if available., Results: Thirty-four (9%) of 319 patients with angiographic evidence of CSC were diagnosed with PED over a mean follow-up of 49 months (range, 12-165 months; median, 36 months). Mean age of the patients was 47 years (range, 32-69 years; median, 48 years), most of whom were males (68%). Mean initial visual acuity was 20/32 (range, 20/13 to 20/400; median, 20/30). PEDs were commonly unilateral (88%), unifocal (76%), and extrafoveal (82%). Overall mean final visual acuity was 20/25 (range, 20/13 to 20/250; median, 20/25) for all patients. Mean visual acuity for the group of patients with subfoveal PED (18%) was 20/50 (range, 20/25 to 20/250; median, 20/50). Complete resolution of the PED occurred in 65% of patients, with resultant mean visual acuity of 20/25 (range, 20/13 to 20/250; median, 20/25). In this group, localized retinal pigment epithelial atrophy developed in 86%, with mean final visual acuity of 20/25 (range, 20/13 to 20/250; median, 20/25). Persistent PED was observed in 35% of patients, resulting in mean visual acuity of 20/25. There were no cases of choroidal neovascularization., Conclusions: CSC with associated retinal PED may be seen and generally has a good visual prognosis. The most frequent outcome is resolution with retinal pigment epithelial atrophy. Subfoveal PED occurs less commonly and may have a poorer visual prognosis.

Purpose: To report the optical coherence tomography (OCT) findings and visual results in a series of patients treated with intravitreal bevacizumab for choroidal neovascularization (CNV) associated with age-related macular degeneration (AMD), and to determine if a difference in treatment effect exists between previously treated and treatment naïve patients., Methods: A retrospective review of all patients treated with intravitreal bevacizumab for CNV from AMD with visual acuity greater than or equal to 20/320 between September 2005 and February 2006 was performed. OCT data recorded included central macular thickness and the presence or absence of cystic intraretinal fluid, subretinal fluid, or pigment epithelial detachment at the time of the initial injection, at 1-week, 1-month, and 3-month intervals, as well as at the end of follow-up. Visual acuity measurements were recorded using Early Treatment Diabetic Retinopathy Study charts. Any ocular or systemic adverse events were recorded. Statistical analysis was performed to determine if OCT and visual acuity results were significant and to determine if a difference in outcomes existed between previously treated patients and treatment naïve patients., Results: Fifty-four eyes of 51 patients treated with intravitreal bevacizumab for CNV from AMD were identified. A total of 178 injections were performed. Mean number of days of follow-up was 138 with 91% of patients having at least 90 days of follow-up. Seventy percent of patients had undergone previous treatment for CNV. The mean number of intravitreal bevacizumab injections per eye was 3.3. Combined treatment with photodynamic therapy was provided in 20% of cases at the initial intravitreal injection. OCT data for all patients revealed an initial mean thickness of 362 mum, which was decreased at 1 week to 278 microm (P = 0.001), 235 microm at 1 month (P < 0.0001), 238 microm at 3 months (P = 0.0004), and 244 microm for the end of follow-up (P < 0.0001). Cystic retinal edema, subretinal fluid, and pigment epithelial detachment resolved in the majority of cases, but pigment epithelial detachment frequently took longer to resolve. Initial mean visual acuity was 20/125 (logMAR 0.8), and final mean visual acuity was 20/100 (logMAR 0.7) (P = 0.03). There was no difference in OCT or visual acuity outcomes (P = 0.62 and P = 0.28, respectively) between previously treated and treatment naïve patients. There was no difference in OCT or visual acuity outcomes (P = 0.67 and P = 0.21, respectively) between patients who received combination therapy and those who received monotherapy with intravitreal bevacizumab. No systemic or ocular adverse events were recorded., Conclusion: Intravitreal bevacizumab for CNV from AMD results in a rapid decrease in OCT-measured retinal thickness in a majority of cases. Visual acuity also improved in this series, suggesting a potential corresponding visual benefit. This series suggests that previously treated and treatment naïve patients have similar outcomes.

Purpose: To evaluate treatment of macular edema associated with central retinal vein occlusion (CRVO) using intravitreal triamcinolone acetonide., Methods: Retrospective review of data for 29 eyes of 29 patients with CRVO and macular edema treated with intravitreal triamcinolone acetonide. Initial visual acuity, intraocular pressure, and history of glaucoma were recorded. Final visual acuity, intraocular pressure, and adverse events were recorded during the treatment period., Results: Twenty-nine eyes were treated with intravitreal injection. The mean follow-up was 348 days. The median initial Early Treatment Diabetic Retinopathy Study visual acuity was 20/250 (median logMAR, 1.1). The median visual acuity 3 months after injection was 20/125 (median logMAR, 0.8). This difference was statistically significant. The median final visual acuity was 20/250 (median logMAR, 1.1). This difference in visual acuity was not statistically significant. Elevated intraocular pressure, excluding that related to neovascularization, occurred in 5 of 22 patients. Subgroup analysis revealed that patients who received multiple injections had better outcomes., Conclusion: Intravitreal triamcinolone acetonide may improve vision transiently but does not appear to result in a sustained visual acuity benefit for patients with macular edema associated with CRVO. Repeated injections may be necessary. The risk of glaucoma is significant, and additional study is required to further characterize this and other risks.

Purpose: To determine if strabismus affects the ratings of official U.S. Army photographs., Methods: Photographs of seven women and seven men officers (subjects) were digitally altered to give the impression of strabismus. Four photographs of each subject were obtained: two in an orthotropic state; one in a left exotropic state; and one in a left esotropic state. The photographs were presented randomly to a panel of 38 raters. Masked to the study design, the raters rated every photograph on a 1 to 10 Likert scale. The results were grouped according to eye alignment: two orthotropic groups, one exotropic group, and one esotropic group. Comparisons of the mean ratings were made between each eye alignment group and based on the subject's gender., Results: The mean rating for each orthotropic group was 5.4 and 5.5 Likert scale units with a SD of 0.8 and 0.9, respectively (group 1 and group 2). The mean rating for the exotropic group was 5.4 Likert scale units with a SD of 0.7. The mean rating for the esotropic group was 5.1 Likert scale units with a SD of 0.8. Significantly lower ratings were obtained for the esotropic group compared with the orthotropic group (p=0.028). Women received significantly lower ratings regardless of eye alignment (p=0.044)., Conclusions: This study indicates that the presence of esotropia negatively affects the rating of an official U.S. Army photograph; furthermore, female gender negatively affects ratings.

Vitreous hemorrhage is common, with varied clinical manifestations and causes. The most common causes include proliferative diabetic retinopathy, vitreous detachment with or without retinal breaks, and trauma. Less common causes include vascular occlusive disease, retinal arterial macroaneurysm, hemoglobinopathies, age-related macular degeneration, intraocular tumors, and others. The natural history depends on the underlying cause, and is generally more favorable in eyes without underlying disease. Treatment is directed at the underlying cause, such as laser photo-coagulation for proliferative diabetic retinopathy or for retinal breaks. Occasionally, hemorrhage does not resolve spontaneously and vitrectomy surgery is necessary and beneficial. New strategies for the treatment of vitreous hemorrhage, such as pharmacologic vitreous liquefaction, may be important in the future.

Objective: To evaluate the number of intraocular foreign body (IOFB) injuries that occurred in Operation Iraqi Freedom, and to determine the cause of injury, the type of foreign body, and the associated injuries to other body systems., Design: Retrospective, noncomparative, interventional case series., Participants: Fifty-five United States military personnel with an IOFB injury during Operation Iraqi Freedom., Intervention: Pars plana vitrectomy, foreign body removal, and additional surgical procedures as the clinical situation dictated., Main Outcome Measures: Cause of injury, size of corneal/scleral laceration, number of foreign bodies, type of foreign body, time to foreign body removal, visual acuity, number of enucleations, and injuries to other body systems., Results: The foreign body was caused by a propelled explosive in 20 patients (36%) and a nonpropelled explosive in 31 patients (56%), and the cause of the foreign body was not known in 4 patients (7%). The size of the laceration of the cornea and/or sclera averaged 5.4 mm (range, 0.2-18). There were an average of 1.7 foreign bodies in the injured eye (range, 1-6). The size of those foreign bodies measured ranged from <1 mm to 12 x 14 mm. The most common type of foreign body was metal (68%), followed by glass (14%), stone/cement (14%), bone (5%), and cilia (3%). The time from injury to foreign body removal averaged 20.6 days (range, 0-90). No cases of endophthalmitis were seen. The most common associated injury was to the upper extremity, face, lower extremity, and neck., Conclusions: Unlike trauma in the civilian sector, IOFB injuries in a military setting tend to be caused by explosive devices, which often result in multiple foreign bodies and simultaneous injuries to other body systems. Because of the lack of availability of specialty care in the combat theater, there is often a delay in removal of the foreign body.

Background: Bronchospasm is a potential complication in anyone undergoing general anesthesia. Because volatile anesthetics relax bronchial smooth muscle, the effects of two newer volatile anesthetics, desflurane and sevoflurane, on respiratory resistance were evaluated. The authors hypothesized that desflurane would have greater bronchodilating effects because of its ability to increase sympathetic nervous system activity., Methods: Informed consent was obtained from patients undergoing elective surgery with general anesthesia. We recorded airway flow and pressure after thiopental induction and tracheal intubation (baseline) and for 10 min after beginning volatile anesthesia ( approximately 1 minimum alveolar concentration inspired). Respiratory system resistance was determined using the isovolume technique., Results: Fifty subjects were randomized to receive sevoflurane (n = 20), desflurane (n = 20), or thiopental infusion (n = 10, 0.25 mg. kg-1. h-1). There were no differences between groups for age, height, weight, smoking history, and American Society of Anesthesiologists physical class. On average, sevoflurane reduced respiratory resistance 15% below baseline, whereas both desflurane (+5%) and thiopental (+10%) did not decrease respiratory resistance. The respiratory resistance changes did not differ in patients with and without a history of smoking during sevoflurane or thiopental. In contrast, administration of desflurane to smokers resulted in the greatest increase in respiratory resistance., Conclusions: Sevoflurane causes moderate bronchodilation that is not observed with desflurane or sodium thiopental. The bronchoconstriction produced by desflurane was primarily noted in patients who currently smoked. (Key words: Bronchospasm; respiratory resistance; volatile anesthetics.)