Probable digenic inheritance of Diamond-Blackfan anemia.

A 26-year-old female proband with a clinical diagnosis and consistent phenotype of Diamond-Blackfan anemia (DBA, OMIM 105650) without an identified genotype was referred to the Undiagnosed Diseases Network. DBA is classically associated with monoallelic variants that have an autosomal-dominant or -recessive mode of inheritance. Intriguingly, her case was solved by a detection of a digenic interaction between non-allelic RPS19 and RPL27 variants. This was confirmed with a machine learning structural model, co-segregation analysis, and RNA sequencing. This is the first report of DBA caused by a digenic effect of two non-allelic variants demonstrated by machine learning structural model. This case suggests that atypical phenotypic presentations of DBA may be caused by digenic inheritance in some individuals. We also conclude that a machine learning structural model can be useful in detecting digenic models of possible interactions between products encoded by alleles of different genes inherited from non-affected carrier parents that can result in DBA with an unrealized 25% recurrence risk.

Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome.

BACKGROUND: Exfoliation syndrome (XFS) is an age-related systemic disorder characterized by excessive production and progressive accumulation of abnormal extracellular material, with pathognomonic ocular manifestations. It is the most common cause of secondary glaucoma, resulting in widespread global blindness. The largest global meta-analysis of XFS in 123,457 multi-ethnic individuals from 24 countries identified seven loci with the strongest association signal in chr15q22-25 region near LOXL1. Expression analysis have so far correlated coding and a few non-coding variants in the region with LOXL1 expression levels, but functional effects of these variants is unclear. We hypothesize that analysis of the contribution of the genetically determined component of gene expression to XFS risk can provide a powerful method to elucidate potential roles of additional genes and clarify biology that underlie XFS. RESULTS: Transcriptomic Wide Association Studies (TWAS) using PrediXcan models trained in 48 GTEx tissues leveraging on results from the multi-ethnic and European ancestry GWAS were performed. To eliminate the possibility of false-positive results due to Linkage Disequilibrium (LD) contamination, we i) performed PrediXcan analysis in reduced models removing variants in LD with LOXL1 missense variants associated with XFS, and variants in LOXL1 models in both multiethnic and European ancestry individuals, ii) conducted conditional analysis of the significant signals in European ancestry individuals, and iii) filtered signals based on correlated gene expression, LD and shared eQTLs, iv) conducted expression validation analysis in human iris tissues. We observed twenty-eight genes in chr15q22-25 region that showed statistically significant associations, which were whittled down to ten genes after statistical validations. In experimental analysis, mRNA transcript levels for ARID3B, CD276, LOXL1, NEO1, SCAMP2, and UBL7 were significantly decreased in iris tissues from XFS patients compared to control samples. TWAS genes for XFS were significantly enriched for genes associated with inflammatory conditions. We also observed a higher incidence of XFS comorbidity with inflammatory and connective tissue diseases. CONCLUSION: Our results implicate a role for connective tissues and inflammation pathways in the etiology of XFS. Targeting the inflammatory pathway may be a potential therapeutic option to reduce progression in XFS.

Pigmented and albino rats differ in their responses to moderate, acute and reversible intraocular pressure elevation.

PURPOSE: To compare the electrophysiological and morphological responses to acute, moderately elevated intraocular pressure (IOP) in Sprague-Dawley (SD), Long-Evans (LE) and Brown Norway (BN) rat eyes. METHODS: Eleven-week-old SD (n = 5), LE (n = 5) and BN (n = 5) rats were used. Scotopic threshold responses (STRs), Maxwellian flash electroretinograms (ERGs) or ultrahigh-resolution optical coherence tomography (UHR-OCT) images of the rat retinas were collected from both eyes before, during and after IOP elevation of one eye. IOP was raised to ~35 mmHg for 1 h using a vascular loop, while the other eye served as a control. STRs, ERGs and UHR-OCT images were acquired on 3 days separated by 1 day of no experimental manipulation. RESULTS: There were no significant differences between species in baseline electroretinography. However, during IOP elevation, peak positive STR amplitudes in LE (mean ± standard deviation 259 ± 124 µV) and BN (228 ± 96 µV) rats were about fourfold higher than those in SD rats (56 ± 46 µV) rats (p = 0.0002 for both). Similarly, during elevated IOP, ERG b-wave amplitudes were twofold higher in LE and BN rats compared to those of SD rats (947 ± 129 µV and 892 ± 184 µV, vs 427 ± 138 µV; p = 0.0002 for both). UHR-OCT images showed backward bowing in all groups during IOP elevation, with a return to typical form about 30 min after IOP elevation. CONCLUSION: Differences in the loop-induced responses between the strains are likely due to different inherent retinal morphology and physiology.

Isoflurane and ketamine:xylazine differentially affect intraocular pressure-associated scotopic threshold responses in Sprague-Dawley rats.

PURPOSE: Amplitudes of electroretinograms (ERG) are enhanced during acute, moderate elevation of intraocular pressure (IOP) in rats anaesthetised with isoflurane. As anaesthetics alone are known to affect ERG amplitudes, the present study compares the effects of inhalant isoflurane and injected ketamine:xylazine on the scotopic threshold response (STR) in rats with moderate IOP elevation. METHODS: Isoflurane-anaesthetised (n = 9) and ketamine:xylazine-anaesthetised (n = 6) rats underwent acute unilateral IOP elevation using a vascular loop anterior to the equator of the right eye. STRs to a luminance series (subthreshold to -3.04 log scotopic cd s/m2) were recorded from each eye of Sprague-Dawley rats before, during, and after IOP elevation. RESULTS: Positive STR (pSTR) amplitudes for all conditions were significantly smaller (p = 0.0001) for isoflurane- than for ketamine:xylazine-anaesthetised rats. In addition, ketamine:xylazine was associated with a progressive increase in pSTR amplitudes over time (p = 0.0028). IOP elevation was associated with an increase in pSTR amplitude (both anaesthetics p < 0.0001). The absolute interocular differences in IOP-associated enhancement of pSTR amplitudes for ketamine:xylazine and isoflurane were similar (66.3 ± 35.5 vs. 54.2 ± 24.1 µV, respectively). However, the fold increase in amplitude during IOP elevation was significantly higher in the isoflurane- than in the ketamine:xylazine-anaesthetised rats (16.8 ± 29.7x vs. 2.1 ± 2.7x, respectively, p = 0.0004). CONCLUSIONS: The anaesthetics differentially affect the STRs in the rat model with markedly reduced amplitudes with isoflurane compared to ketamine:xylazine. However, the IOP-associated enhancement is of similar absolute magnitude for the two anaesthetics, suggesting that IOP stress and anaesthetic effects operate on separate retinal mechanisms.

Primary cilia signaling mediates intraocular pressure sensation.

Lowe syndrome is a rare X-linked congenital disease that presents with congenital cataracts and glaucoma, as well as renal and cerebral dysfunction. OCRL, an inositol polyphosphate 5-phosphatase, is mutated in Lowe syndrome. We previously showed that OCRL is involved in vesicular trafficking to the primary cilium. Primary cilia are sensory organelles on the surface of eukaryotic cells that mediate mechanotransduction in the kidney, brain, and bone. However, their potential role in the trabecular meshwork (TM) in the eye, which regulates intraocular pressure, is unknown. Here, we show that TM cells, which are defective in glaucoma, have primary cilia that are critical for response to pressure changes. Primary cilia in TM cells shorten in response to fluid flow and elevated hydrostatic pressure, and promote increased transcription of TNF-α, TGF-ß, and GLI1 genes. Furthermore, OCRL is found to be required for primary cilia to respond to pressure stimulation. The interaction of OCRL with transient receptor potential vanilloid 4 (TRPV4), a ciliary mechanosensory channel, suggests that OCRL may act through regulation of this channel. A novel disease-causing OCRL allele prevents TRPV4-mediated calcium signaling. In addition, TRPV4 agonist GSK 1016790A treatment reduced intraocular pressure in mice; TRPV4 knockout animals exhibited elevated intraocular pressure and shortened cilia. Thus, mechanotransduction by primary cilia in TM cells is implicated in how the eye senses pressure changes and highlights OCRL and TRPV4 as attractive therapeutic targets for the treatment of glaucoma. Implications of OCRL and TRPV4 in primary cilia function may also shed light on mechanosensation in other organ systems.

Optic nerve sheath fenestration using a Raman-shifted alexandrite laser.

BACKGROUND AND OBJECTIVE: Optic nerve sheath fenestration is an established procedure for relief of potentially damaging overpressure on the optic nerve resulting from idiopathic intracranial hypertension. Prior work showed that a mid-IR free-electron laser could be delivered endoscopically and used to produce an effective fenestration. This study evaluates the efficacy of fenestration using a table-top mid-IR source based on a Raman-shifted alexandrite (RSA) laser. STUDY DESIGN/MATERIALS AND METHODS: Porcine optic nerves were ablated using light from an RSA laser at wavelengths of 6.09, 6.27, and 6.43 µm and pulse energies up to 3 mJ using both free-space and endoscopic beam delivery through 250-µm I.D. hollow-glass waveguides. Waveguide transmission was characterized, ablation thresholds and etch rates were measured, and the efficacy of endoscopic fenestration was evaluated for ex vivo exposures using both optical coherence tomography and histological analysis. RESULTS: Using endoscopic delivery, the RSA laser can effectively fenestrate porcine optic nerves. Performance was optimized at a wavelength of 6.09 µm and delivered pulse energies of 0.5-0.8 mJ (requiring 1.5-2.5 mJ to be incident on the waveguide). Under these conditions, the ablation threshold fluence was 0.8 ± 0.2 J/cm(2) , the ablation rate was 1-4 µm/pulse, and the margins of ablation craters showed little evidence of thermal or mechanical damage. Nonetheless, nominally identical exposures yielded highly variable ablation rates. This led to fenestrations that ranged from too deep to too shallow-either damaging the underlying optic nerve or requiring additional exposure to cut fully through the sheath. Of 48 excised nerves subjected to fenestration at 6.09 µm, 16 ex vivo fenestrations were judged as good, 23 as too deep, and 9 as too shallow. CONCLUSIONS: Mid-IR pulses from the RSA laser, propagated through a flexible hollow waveguide, are capable of cutting through porcine optic nerve sheaths in surgically relevant times with reasonable accuracy and low collateral damage. This can be accomplished at wavelengths of 6.09 or 6.27 µm, with 6.09 µm slightly preferred. The depth of ex vivo fenestrations was difficult to control, but excised nerves lack a sufficient layer of cerebrospinal fluid that would provide an additional margin of safety in actual patients.

Prospective Retinal and Optic Nerve Vitrectomy Evaluation (PROVE) study: twelve-month findings.

PURPOSE: To report 1-year outcomes of the Prospective Retinal and Optic Nerve Vitrectomy Evaluation study. DESIGN: Prospective, controlled, observational study. PARTICIPANTS: Eighty eyes of 40 participants undergoing pars plana vitrectomy for epiretinal membrane (ERM), macular hole (MH), or vitreous opacities. METHODS: Enrolled participants underwent baseline evaluation of the study (surgical) and fellow (control) eyes by a masked fellowship-trained glaucoma specialist; evaluation included intraocular pressure (IOP; Goldmann applanation and Tono-Pen), central corneal thickness, gonioscopy, and cup-to-disc ratio measurement. Baseline testing included bilateral color fundus and optic disc photography, fundus autofluorescence, automated perimetry, and optical coherence tomography (OCT) of the macula and optic nerve. Evaluations were repeated at 3 months and 1 year after surgery. MAIN OUTCOME MEASURES: The primary outcome measure was changes in peripapillary retinal nerve fiber layer (pRNFL) thickness. Secondary outcomes included changes in macular thickness and IOP. RESULTS: Thirty-eight of 40 patients completed 1 year of follow-up. Mean visual acuity (VA) improved in study eyes from baseline (P = 0.003) but remained worse than fellow eyes (P<0.001). Study eyes had thinner inferior pRNFL thickness (114±16.8 µm) compared with fellow eyes (123±14.7 µm; P = 0.004). Mean IOP difference between study eyes and fellow eyes increased from baseline to 1 year. At 1 year, MH study eyes had higher mean IOP (16.0±3.7 mmHg) compared with fellow eyes (14.8±3.4 mmHg; P = 0.08). Mean IOP for pseudophakic study eyes increased from 14.5±3.2 mmHg at baseline to 16.0±2.8 mmHg at 1 year (P = 0.04). Central subfield thickness (CST) and cube volume decreased in study eyes at 1 year but remained greater than that of fellow eyes (P<0.05). Reduction in CST from baseline correlated with degree of VA improvement (P<0.05). Mean deviation (MD) improved in ERM study eyes at 1 year when compared with baseline (-2.2 vs. -4.0; P = 0.02) but remained worse than fellow eyes (-1.2; P = 0.002). CONCLUSIONS: One year after vitrectomy, VA, CST, and MD improved in study eyes but not to the level of fellow eyes. Inferior pRNFL thickness decreased in study eyes. Reduction in CST from baseline correlated with degree of VA improvement. Pseudophakic study eyes demonstrated increased IOP when compared with baseline.

Miniature forward-imaging B-scan optical coherence tomography probe to guide real-time laser ablation.

BACKGROUND AND OBJECTIVE: Investigations have shown that pulsed lasers tuned to 6.1 µm in wavelength are capable of ablating ocular and neural tissue with minimal collateral damage. This study investigated whether a miniature B-scan forward-imaging optical coherence tomography (OCT) probe can be combined with the laser to provide real-time visual feedback during laser incisions. STUDY DESIGN/METHODS AND MATERIALS: A miniature 25-gauge B-scan forward-imaging OCT probe was developed and combined with a 250 µm hollow-glass waveguide to permit delivery of 6.1 µm laser energy. A gelatin mixture and both porcine corneal and retinal tissues were simultaneously imaged and lased (6.1 µm, 10 Hz, 0.4-0.7 mJ) through air. The ablation studies were observed and recorded in real time. The crater dimensions were measured using OCT imaging software (Bioptigen, Durham, NC). Histological analysis was performed on the ocular tissues. RESULTS: The combined miniature forward-imaging OCT and mid-infrared laser-delivery probe successfully imaged real-time tissue ablation in gelatin, corneal tissue, and retinal tissue. Application of a constant number of 60 pulses at 0.5 mJ/pulse to the gelatin resulted in a mean crater depth of 123 ± 15 µm. For the corneal tissue, there was a significant correlation between the number of pulses used and depth of the lased hole (Pearson correlation coefficient = 0.82; P = 0.0002). Histological analysis of the cornea and retina tissues showed discrete holes with minimal thermal damage. CONCLUSIONS: A combined miniature OCT and laser-delivery probe can monitor real-time tissue laser ablation. With additional testing and improvements, this novel instrument has the future possibility of effectively guiding surgeries by simultaneously imaging and ablating tissue.

Acute myopia and angle closure glaucoma from topiramate in a seven-year-old: a case report and review of the literature.

BACKGROUND: A case is reported of acute bilateral myopia and angle closure glaucoma in a 7-year-old patient from topiramate toxicity. This is the second known reported case of topiramate induced acute angle closure glaucoma and third known reported case of topiramate induced acute myopia in a pediatric patient. CASE PRESENTATION: This case presents a 7-year-old who had recently begun topiramate therapy for seizures and headache. She developed painless blurred vision and acute bilateral myopia, which progressed to acute bilateral angle closure glaucoma. After a routine eye exam where myopia was diagnosed, the patient presented to the emergency room with symptoms of acute onset blurry vision, tearing, red eyes, swollen eyelids, and photophobia. The symptoms, myopia, and angle closure resolved with topical and oral intraocular pressure lowering medications, topical cyclopentolate, and discontinuation of topiramate. CONCLUSION: Acute angle closure glaucoma is a well-known side effect of topiramate, but is rarely seen in children. It cautions providers to the potential ophthalmic side effects of commonly used medications in the pediatric population. It highlights the need to keep a broad differential in mind when encountering sudden onset blurry vision in the primary care clinic, the need for careful consideration of side effects when starting topiramate therapy in a child, and the need for parental counseling of side effects.

Lensectomy as treatment for refractory or progressive retinopathy of prematurity narrow-angle glaucoma.

We present the case of a patient with a history of laser-treated retinopathy of prematurity (ROP) who developed narrow angles and intermittent angle closure. Despite laser peripheral iridotomy/iridoplasty, 1 year later, the patient had recurrent narrowing that resolved following clear lens extraction with intraocular lens placement. This case highlights the importance of continued monitoring for narrow angles in patients with ROP history.

Five degrees-of-freedom mechanical arm with remote center of motion (RCM) device for volumetric optical coherence tomography (OCT) retinal imaging.

Handheld optical coherence tomography (HH-OCT) is gaining popularity for diagnosing retinal diseases in neonates (e.g. retinopathy of prematurity). Diagnosis accuracy is degraded by hand tremor and patient motion when using commercially available handheld retinal OCT probes. This work presents a low-cost arm designed to address ergonomic challenges of holding a commercial OCT probe and alleviating hand tremor. Experiments with a phantom eye show enhanced geometric uniformity and volumetric accuracy when obtaining OCT scans with our device compared to handheld imaging approaches. An in-vivo porcine volumetric image was also obtained with the mechanical arm demonstrating clinical deployability.

Long-term results of combined endoscope-assisted pars plana vitrectomy and glaucoma tube shunt surgery.

PURPOSE: To assess outcomes after endoscope-assisted pars plana vitrectomy with concurrent pars plana tube shunt placement. METHODS: Records of 18 adult patients (19 eyes) with uncontrolled chronic angle-closure glaucoma associated with corneal opacification or fibrosed pupils were retrospectively reviewed. All eyes underwent endoscope-assisted pars plana vitrectomy with Baerveldt tube shunt placement into the vitreous cavity between 1997 and 2005. Intraocular pressure reduction, glaucoma medication reduction, complications, and visual acuity were analyzed. RESULTS: Mean follow-up duration was 62 months (range, 10-106 months). Mean preoperative intraocular pressure was 31.3 ± 10.5 mmHg on 3.4 ± 1.0 glaucoma medications. Intraocular pressure was significantly reduced at each postoperative time point examined. In the 17 eyes without phthisis, intraocular pressure was significantly reduced at the final follow-up examination to a mean of 11.4 ± 2.9 mmHg (P < 0.0001) on 1.3 ± 1.2 medications (P < 0.0001). No complications occurred in 14 of 19 eyes. Postoperatively, best-attained visual acuity improved in 14 of 19 eyes, remained unchanged in 4 of 19 eyes, and was reduced in 1 of 19 eyes. CONCLUSION: Combined endoscope-assisted pars plana vitrectomy with placement of a Baerveldt tube shunt into the vitreous cavity is a useful intervention in patients with uncontrolled chronic angle-closure glaucoma, media opacities, and limited surgical options.

A Review of Robotic and OCT-Aided Systems for Vitreoretinal Surgery.

The introduction of the intraocular vitrectomy instrument by Machemer et al. has led to remarkable advancements in vitreoretinal surgery enabling the limitations of human physiologic capabilities to be reached. To overcome the barriers of perception, tremor, and dexterity, robotic technologies have been investigated with current advancements nearing the feasibility for clinical use. There are four categories of robotic systems that have emerged through the research: (1) handheld instruments with intrinsic robotic assistance, (2) hand-on-hand robotic systems, (3) teleoperated robotic systems, and (4) magnetic guidance robots. This review covers the improvements and the remaining needs for safe, cost-effective clinical deployment of robotic systems in vitreoretinal surgery.

Surgical management of large bilateral epibulbar dermoids with autologous oral mucous membrane transplantation.

PURPOSE: To report the surgical management of extensive epibulbar dermoids with autologous oral mucous membrane transplantation. OBSERVATIONS: While rare, extensive dermoids that encroach upon the visual axis carry a poor prognosis. We report the case of a 7-week old premature male infant who presented with large bilateral epibulbar dermoids obscuring the visual axis. He was treated first with sequential bilateral optical iridectomies under the clearest corneal areas, followed several months later by sequential dermoid excision and amniotic membrane transplantation in each eye. He subsequently underwent autologous "simple" oral mucosal epithelial transplantation (SOMET) as well as strabismus surgery. Conclusions and Importance: Here we present the first case, to the best of our knowledge, of the use of SOMET in managing post-operative pseudopterygium following dermoid excision. To our knowledge it is the also the first application of this technique in a young pediatric patient. A good clinical outcome may be achieved with SOMET, which may offer a minimally invasive alternative to other traditional modalities.

Short-term Optic Disc Cupping Reversal in a Patient With Mild Juvenile Open-angle Glaucoma Due to Early Idiopathic Intracranial Hypertension.

PURPOSE: The purpose of this study was to report a case of optic disc cupping reversal in an adult without significant intraocular pressure-lowering treatment. PATIENT: A 20-year-old female with a history of mild juvenile open-angle glaucoma who developed subjective blurred vision and a decrease in cupping of her optic discs. RESULTS: Dilated examination demonstrated decreased cup-to-disc ratios in both eyes with a slight blurring of the disc margin in the right eye. The appearance of both optic discs returned to baseline after weight loss therapy. CONCLUSIONS: An unexplained reduction of optic nerve cup-to-disc ratio should prompt a workup for other etiologies, such as increased intracranial pressure. Baseline photographs not subjected to computerized scan obsolescence are extremely useful in monitoring the long-term appearance of asymmetric optic discs as an adjunct to the clinical examination.

Three-Year Findings on Intraocular Pressure Changes in The Prospective Retinal and Optic Nerve Vitrectomy Evaluation (PROVE) Study.

BACKGROUND AND OBJECTIVE: This paper reports 3-year intraocular pressure (IOP) outcomes of the Prospective Retinal and Optic Nerve Vitrectomy Evaluation (PROVE) study. PATIENTS AND METHODS: The prospective, controlled, observational study included 80 eyes of 40 participants undergoing routine pars plana vitrectomy. Study patients underwent preoperative evaluation and multimodal testing of the study (surgical) and fellow (control) eye. This testing was repeated at 3 months postoperatively and then annually for 3 years. RESULTS: Thirty-two of 40 patients (80%) completed 3-year follow-up. At 3 years postoperatively, there was no difference in IOP measurements in surgical eyes overall from baseline (P = .36). Subgroup analysis of pseudophakic eyes at baseline showed a significant elevation in IOP from 14.3 mm Hg ± 2.9 mm Hg at baseline to 16.8 mm Hg ± 3.2 mm Hg at 3-year follow-up (P < .029). Fellow eyes did not experience a significant change from baseline. CONCLUSION: The authors' 3-year results show that IOP is consistently and significantly elevated in pseudophakic eyes compared to baseline following routine vitrectomy. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:371-376.].

Morphological and functional changes in the rat retina associated with 2 months of intermittent moderate intraocular pressure elevation.

Morphological and functional changes in the rat retina and optic nerve head (ONH), associated with 8 weeks of intermittent moderately elevated intraocular pressure (IOP) were measured with a combined ultrahigh resolution optical coherence tomography (UHR-OCT) and electroretinography (ERG) system. The IOP of male Sprague-Dawley rats was raised in one eye to ~35 mmHg for 1 hour/day on 6 days each week using vascular loops. Single-flash ERG traces and volumetric UHR-OCT images of the ONH were acquired from both eyes before, during and after IOP elevations at weeks 1, 5 and 9 of the study. The UHR-OCT images showed depression of the posterior eye around the ONH during the IOP elevations, the magnitude of which increased significantly from week 1 to week 9 (p = 0.01). The ERG a-wave and b-wave amplitudes increased temporarily during IOP elevations and returned to normal ~30 minutes after loop removal. Recurrent intermittent IOP spikes caused > 30% decrease in the ERG a-wave and b-wave amplitudes measured during the IOP elevations over the course of 2 months. This study suggests that recurrent, relatively short-duration IOP spikes for extended period of time are associated with peri-ONH tissue hypercompliance and reduced retinal functional response to visual stimulation during acute IOP elevation.

Simultaneous multimodal ophthalmic imaging using swept-source spectrally encoded scanning laser ophthalmoscopy and optical coherence tomography.

Scanning laser ophthalmoscopy (SLO) benefits diagnostic imaging and therapeutic guidance by allowing for high-speed en face imaging of retinal structures. When combined with optical coherence tomography (OCT), SLO enables real-time aiming and retinal tracking and provides complementary information for post-acquisition volumetric co-registration, bulk motion compensation, and averaging. However, multimodality SLO-OCT systems generally require dedicated light sources, scanners, relay optics, detectors, and additional digitization and synchronization electronics, which increase system complexity. Here, we present a multimodal ophthalmic imaging system using swept-source spectrally encoded scanning laser ophthalmoscopy and optical coherence tomography (SS-SESLO-OCT) for in vivo human retinal imaging. SESLO reduces the complexity of en face imaging systems by multiplexing spatial positions as a function of wavelength. SESLO image quality benefited from single-mode illumination and multimode collection through a prototype double-clad fiber coupler, which optimized scattered light throughput and reduce speckle contrast while maintaining lateral resolution. Using a shared 1060 nm swept-source, shared scanner and imaging optics, and a shared dual-channel high-speed digitizer, we acquired inherently co-registered en face retinal images and OCT cross-sections simultaneously at 200 frames-per-second.

Central corneal thickness and corneal diameter in patients with childhood glaucoma.

PURPOSE: To determine and compare the central corneal thickness (CCT) and corneal diameter among groups of patients with childhood glaucomas and assess the relationship between CCT and corneal diameter in these patients. DESIGN: A multicenter observational case series using prospective and retrospective data. METHODS: Patients from the Scheie Eye Institute, Children's Hospital of Philadelphia, and Emory and Vanderbilt Medical Centers with childhood glaucomas were eligible to participate. Retrospective data on CCT and corneal diameter of these patients were collected when available; otherwise, patients were asked to return to the ophthalmology clinics for measurements. Patients with corneal edema or central corneal scarring were excluded. One hundred eighty four glaucomatous eyes from 109 patients (median age = 9.0 y; age range = 0 to 60 y) were included. RESULTS: The mean CCT (+/-SE) was 651.1+/-63.5 microm for aphakic, 528.7+/-38.5 microm for Axenfeld-Rieger, and 563.4+/-67.9 microm for 1 degrees infantile eyes. The mean corneal diameter in aphakic, Axenfeld-Rieger, and 1 degrees infantile glaucoma eyes were 11.2+/-1.0, 12.5+/-0.9, and 13.2+/-1.2 mm, respectively. There was a significant difference in CCT and in corneal diameter between aphakic and 1 degrees infantile glaucoma eyes, and between aphakic and Axenfeld-Rieger eyes (P < 0.0001). There was a negative correlation between CCT and corneal diameter in all eyes (r = -0.41, P < 0.0001). CONCLUSIONS: Patients with aphakic glaucoma are different from those with congenital glaucoma or Axenfeld-Rieger in CCT and corneal diameter. A patient with pediatric glaucoma and a larger corneal diameter was more likely to have a thinner CCT. Attention should be paid to the CCT of patients with childhood glaucomas for interpretation of intraocular pressure.