Retinal Consultants of Arizona

Abstract Purpose Several clinical studies have shown correlations between certain physiological measurements and an autism spectrum disorder (ASD) diagnosis. Such findings, however, have generally not resulted in tangible progress towards practical translation. In fact, most studies have been retrospective in nature and compare biomarker profiles in children with an ASD diagnosis to those who are typically developing. A clinically meaningful test, however, requires an ASD diagnostic center to distinguish children from those with a developmental disorder pre-diagnosis. Methods This paper presents, for the first time, a double-blind case/control trial design in which metabolic profiles, collected at two developmental pediatric clinics, were collected from children on a diagnostic waitlist for the purpose of developing a blood-based test for ASD. Besides obtaining blood samples, the children underwent gold-standard clinical evaluations, including the Autism Diagnostic Observation Schedule (ADOS), Mullens Scale of Early Learning (MSEL), and Vineland Adaptive Behavior Scale (VABS). The analysis, together with a complete medical history and physical exam, allowed to confirm or rule-out suspected ASD using DSM-V criteria. The study was based on a cohort of 140 children between the ages 18-60 months, that were referred to a developmental pediatrician because of concerns in their development. Results 114 of these children received an ASD diagnosis, while 26 were diagnosed with non-ASD related developmental delays. Based on the measured metabolites, artificial intelligence-based classification algorithms allowed for an over 80% accuracy in predicting whether a sample came from a child diagnosed with ASD or not. Conclusion While these results need to be replicated in a larger study, especially involving more children with non-ASD related developmental delays, this is the first work using physiological measurements, coupled with AI, to support ASD diagnoses in a clinically relevant setting.

PurposeThe purpose of this study was to evaluate the relationship between retinal vascular density and retinal thickness (RT) using optical coherence tomography angiography (OCTA) in subjects with diabetic retinopathy (DR).MethodsOCTA scans were obtained on non-diabetic (control) and subjects with DR. DR was classified as mild nonproliferative DR (NPDR) or referable DR (moderate NPDR and worse) based on color fundus photographs. Full, superficial, and deep RT were quantified. Corresponding layer-specific capillary densities were quantified as vessel skeleton density (VSD) with and without large vessels. Tissue perfusion density (TPD) was defined as the ratio of layer-specific VSD-to-RT. Generalized estimating equations were used to adjust for inter-eye correlation, age, sex, hypertension, and hyperlipidemia.ResultsIn total, 147 subjects were recruited including 44 control subjects (73 eyes, 34% male subjects) and 103 subjects with subjects (144 eyes, 56% male subjects). In the superficial retinal layer, we observed: (1) capillary VSD and TPD were significantly lower with increased DR severity (P < 0.001), (2) no significant difference in full RT among study groups, (3) a novel significant association between VSD and RT among controls (r = 0.439, P < 0.001) that was absent or attenuated among subjects with diabetes. Similar findings were replicated in analyses of the full and deep retinal layers.ConclusionsThere is a significant correlation between retinal capillary density and thickness in control subjects which is absent or attenuated in DR. This relationship is reflected in a lower TPD measure that is primarily driven by a decrease in retinal capillary density in our cohort.

Purpose: To report clinical indications and outcomes of select vitreoretinal surgery in patients with Marfan syndrome. Methods: A retrospective consecutive case series of patients with Marfan syndrome undergoing surgery was performed. Data collected included demographics, systemic and ocular history, refraction, and preoperative and postoperative examination findings. Results: Twenty-seven patients (39 eyes) with Marfan syndrome who underwent vitreoretinal surgery were included. Mean age at time of surgery was 37 years, and mean follow-up duration was 4 years. Surgical indications for patients with Marfan syndrome included visually significant crystalline lens subluxation (n = 25 eyes), rhegmatogenous retinal detachment (RRD) (n = 9 eyes), and dislocated intraocular lens implants (n = 5 eyes). Best-corrected visual acuity was 20/40 or better in 21 eyes undergoing surgery for lens subluxation. For patients undergoing surgery for RRD, anatomic reattachment was achieved by last follow-up in 8 eyes (89%). Conclusions: Pars plana lensectomy and vitrectomy for crystalline lens subluxation was the most common vitreoretinal surgery in patients with Marfan syndrome.

Neuroendocrine tumors (NETs) are rare cancers with heterogeneous histologies, response to treatments, and prognoses. Majority of these cancers originate in the gastrointestinal tract and metastasize to the liver. We report the cases of 5 patients with low-grade NET disease with rare metastases to the choroids. Two of the patients were treated with peptide receptor radionuclide therapy (lutetium 177 [ 177 Lu]). This is the first report confirming peptide radionuclide therapy safety in patients with low-grade NET with ocular metastases.

Despite the effectiveness of existing anti-vascular endothelial growth factor (VEGF) therapies, a need remains for further treatment options to improve response rates and/or reduce injection or monitoring frequency in patients with diabetic macular edema (DME). To evaluate the efficacy and safety of brolucizumab vs aflibercept dosed every 4 weeks in participants with DME. This 52-week, double-masked, phase 3 randomized clinical trial included treatment-naive adults and adults who had previously received anti-VEGF therapy. Data were collected from September 2019 to March 2020, and data were analyzed from April 2020 to February 2021. Brolucizumab, 6 mg, intravitreal injection every 4 weeks or aflibercept, 2 mg, intravitreal injection every 4 weeks. Participants were randomized 2:1 to brolucizumab, 6 mg, or aflibercept, 2 mg. The primary end point was change from baseline in best-corrected visual acuity at week 52. Secondary end points were the proportion of participants with a 2-step improvement or greater from baseline in Diabetic Retinopathy Severity Scale score, the proportion of eyes with absence of both subretinal fluid and intraretinal fluid, change from baseline in central subfield thickness, and safety at week 52. A total of 517 participants were randomized to brolucizumab (n = 346) or aflibercept (n = 171); 299 (57.8%) were male, and the mean (SD) age was 60.7 (10.2) years. Brolucizumab was noninferior to aflibercept in best-corrected visual acuity (Early Treatment Diabetic Retinopathy Study letter score) change from baseline at week 52 (brolucizumab, 12.2-letter improvement; aflibercept, 11.0-letter improvement; difference, 1.1; 95% CI, -0.6 to 2.9; noninferiority margin, 4; P < .001). Brolucizumab was superior to aflibercept for the proportion of eyes without subretinal and intraretinal fluid (brolucizumab, 144 of 346 [41.6%]; aflibercept, 38 of 171 [22.2%]; difference, 20.0%; 95% CI, 12.5to 28.6; P < .001) and mean central subfield thickness change from baseline at week 52 (brolucizumab, -237.8 μm; aflibercept, -196.5 μm; difference, -41.4; 95% CI, -58.9 to -23.8; P < .001). Incidence of intraocular inflammation was 4.0% (14 of 346) in the brolucizumab arm and 2.9% (5 of 171) in the aflibercept arm, incidence of retinal vasculitis was 0.9% (3 of 346) and 0.6% (1 of 171), respectively, and incidence of retinal vascular occlusion was 0.3% (1 of 346) and 0.6% (1 of 171). One participant in the brolucizumab arm had retinal artery occlusion. In these study participants with DME, no clinically meaningful differences in visual outcomes were noted between the brolucizumab and aflibercept arms; some superior anatomic improvements were noted in the brolucizumab arm. No new safety concerns were identified. ClinicalTrials.gov Identifier: NCT03917472.

Objective:To determine quality-adjusted life years (QALYs) over 3 years after transcervical fibroid ablation (TFA) with the Sonata System.Methods:The SONATA trial was a prospective multicenter interventional trial that assessed the safety and efficacy of TFA for treatment of women with symptomatic uterine fibroids. Change in generic health status was assessed with the EuroQol 5-Dimension questionnaire (0–1 scale). Fibroid-specific quality of life (QOL) was measured on a 0 to 100 scale with the health-related quality of life subscale of the Uterine Fibroid Symptom and Quality-of-Life (UFS-QOL). The number of QALYs gained relative to baseline and cumulative QALYs were calculated using the area under the curve at each follow-up visit over 3 years.Results:Among 147 women receiving TFA, fibroid-specific QOL increased from 40 ± 21 at baseline to 84 ± 19 at 1 year and 83 ± 23 at 3 years (p < 0.001). Generic QOL increased from 0.72 ± 0.21 at baseline to 0.89 ± 0.12 at 1 year and 0.88 ± 0.16 at 3 years (p < 0.001). Over 3 years, TFA resulted in 1.24 ± 0.64 QALYs gained when using fibroid-specific health utility scores and 0.49 ± 0.61 QALYs gained when using generic health utility scores. Cumulative QALYs experienced at 3 years as a percentage of perfect health were 82% with fibroid-specific scores and 88% with generic health scores.Conclusions:Women treated by TFA with the Sonata System for symptomatic uterine fibroids reported durable improvements in generic and fibroid-specific QOL, as well as clinically meaningful increases in QALYs over 3 years. Clinical Trials.gov ID: NCT02228174. (J GYNECOL SURG 38:143)

Introduction: Sinonasal Outcomes Test-22 (SNOT-22) has been widely used as a patient reported sinonasal quality of life (QOL) instrument in patients undergoing endonasal skull base surgery, even though it has never been validated in this patient population. SNOT-22 was developed for chronic rhinosinusitis and consists of five subscales (i.e., rhinological, extranasal rhinologic, ear/facial, psychological, and sleep). The purpose of this study was to explore the psychometric validity and minimally clinically important difference (MCID) of SNOT-22 to determine if it is a valid and reliable scale in patients undergoing endoscopic endonasal pituitary surgery.

Vitamin deficiencies of B12 (cobalamin) and B9 (folic acid) are common causes of nutritional optic neuropathy. We present a unique case report of a patient with normal B12 levels and deficient folic acid levels. Folic acid deficiency, along with excessive alcohol and tobacco use, resulted in decreased visual acuities and paracentral visual fields defects. A 57-yearold male experienced a bilateral, insidious, and painless decrease in vision over a two-month period and was found to have tobacco-alcohol amblyopia (TAA), an optic neuropathy related to nutritional deficiency in combination with excessive tobacco use and/or alcohol (ethanol) consumption. With proper supplementation, he experienced significant improvement in vision, but with a devastating outcome leading to his death. This case report illustrates a unique case of folic acid deficiency contributing to TAA, as vitamin B12 deficiency is more frequently associated with TAA. CE Notification: This course is expired.