Concurrent adjacent strabismus surgery with glaucoma drainage device placement in childhood glaucomas.

BACKGROUND: Determine outcomes of concurrent strabismus surgery with placement of a glaucoma drainage device (GDD) in children. METHODS: Retrospective review of pediatric patients who underwent simultaneous lateral rectus (LR) muscle surgery with superotemporal GDD placement. Strabismus and GDD success were defined as residual horizontal misalignment < 10 prism diopter (PD) and intraocular pressure (IOP) < 21 mmHg, no visually devastating complications, and no additional IOP-lowering surgeries. RESULTS: Fifteen eyes of 13 patients (69% male) underwent LR surgery (14 recessions, 1 resection) for exotropia or esotropia simultaneous with GDD placement (13 Baerveldt, 2 Ahmed) at 8.34 ± 5.26 years. Preoperative visual acuity (VA) in operative eye (0.89 ± 0.54) was worse than non-operative eye (0.23 ± 0.44, p = 0.0032). Preoperative horizontal deviation was 38.3 ± 9.4 PD and LR recession was 7.4 ± 1.1 mm. At final follow-up, VA in operative eye (0.87 ± 0.52) was unchanged from preoperative (p = 0.4062). Final IOP was significantly decreased (12.4 ± 4.7 mmHg vs. 31.1 ± 11.4 mmHg, p = 0.0001) as was number of glaucoma medications (2.7 ± 1.7 vs. 1.1 ± 1.3, p = 0.0037). Five (38%) and 9 patients (69%) met criteria for strabismus and GDD success, respectively. Two eyes required tube revision and endoscopic cyclophotocoagulation and 2 eyes had additional strabismus surgery. CONCLUSIONS: Concurrent strabismus and GDD surgery decreased horizontal deviation and obtained IOP control. It is important to consider correction of strabismus at time of GDD placement to maximize visual development and improve cosmesis in children with glaucoma.

Ahmed to Baerveldt glaucoma drainage device exchange in pediatric patients.

BACKGROUND: There is no consensus and few reports as to the surgical management of encapsulated Ahmed glaucoma drainage devices (GDD) which no longer control intraocular pressure (IOP), especially within the pediatric population. The purpose of this study was to report outcomes of exchanging the Ahmed GDD for a Baerveldt GDD in children with refractory glaucoma. METHODS: Retrospective review of children (< 18yrs) who underwent removal of Ahmed FP7 and placement of Baerveldt 350 (2016-2021) with ≥ 3-month follow-up. Surgical success was defined as IOP 5-20 mmHg without additional IOP-lowering surgeries or visually devastating complications. Outcomes included change in best-corrected visual acuity (BCVA), intraocular pressure (IOP), and number of glaucoma medications. RESULTS: Twelve eyes of 10 patients underwent superotemporal Ahmed FP7 to Baerveldt 350 GDD exchange at 8.8 ± 3.6 years. Time to Ahmed failure was 2.7 ± 1.9 years with 1-, 3-, and 5-year survival rates of 83% with a 95% CI[48,95], 33% with a 95% CI[10, 59], and 8% with a 95% CI[0, 30]. At final follow-up (2.5 ± 1.8 years), success rate for Baerveldt 350 GDDs was 75% (9 of 12 eyes) with 1 and 3-yr survival rates of 100% and 71% with 95% CI[25,92], respectively. IOP (24.1 ± 2.9 vs. 14.9 ± 3.1 mmHg) and number of glaucoma medications (3.7 ± 0.7 vs. 2.7 ± 1.1) were significantly decreased (p < 0.004). BCVA remained stable. Two eyes required cycloablation and 1 eye developed a retinal detachment. CONCLUSIONS: Ahmed removal with Baerveldt placement can improve IOP control with fewer medications in cases of refractory pediatric glaucoma. However, more eyes with greater follow-up are required to determine long-term outcomes.

Free Fibula Flap for the Treatment of Agnathia in a 10-Year-Old With Severe Agnathia-Otocephaly Complex.

Agnathia-otocephaly complex (AOC), a first branchial arch defect, is characterized by mandibular hypoplasia or aplasia, ear abnormalities, microstomia, and macroglossia and is a rare and often fatal diagnosis. Herein, the technical considerations and details of mandibular reconstruction using virtual surgical planning (VSP) and a vascularized free fibula flap for further mandibular reconstruction in a 10-year-old boy are presented. The patient's preoperative examination was consistent with agnathia (absence of mandibular symphysis, bilateral mandibular bodies, condyles, coronoids, rami, and temporomandibular joint), severe microstomia, and a Tessier # 30 cleft (maintained to allow oral access until later in treatment). Virtual surgical planning was utilized to plan a 3-segment fibula for the reconstruction of the mandibular symphysis and bilateral body segments, and bilateral costochondral grafts were planned for the rami. To the authors' knowledge, this represents the first application of virtual surgical planning for mandibular reconstruction with a vascularized free fibula flap in a pediatric patient with severe agnathia-otocephaly complex.

Wildfire Smoke Exposure Is Associated with Adverse Respiratory Events under General Anesthesia in At-risk Pediatric Patients.

BACKGROUND: Increasing wildfire activity worldwide has led to exposure to poor air quality and numerous detrimental health impacts. This study hypothesized an association between exposure to poor air quality from wildfire smoke and adverse respiratory events under general anesthesia in pediatric patients. METHODS: This was a single-center retrospective double-cohort study examining two significant wildfire events in Northern California. Pediatric patients presenting for elective surgery during periods of unhealthy air quality were compared with those during periods of healthy air quality. The primary exposure, unhealthy air, was determined using local air quality sensors. The primary outcome was the occurrence of an adverse respiratory event under anesthesia. Secondary analysis included association with other known risk factors for adverse respiratory events. RESULTS: A total of 625 patients were included in the analysis. The overall risk of a respiratory complication was 42.4% (265 of 625). In children without a history of reactive airway disease, the risk of adverse respiratory events did not change during unhealthy air periods (102 of 253, 40.3%) compared with healthy air periods (95 of 226, 42.0%; relative risk 0.96 [0.77 to 1.19], P = 0.703). In children with a history of reactive airway disease, the risk of adverse respiratory events increased from 36.8% (25 of 68) during healthy air periods to 55.1% (43 of 78) during periods with unhealthy air (1.50 [1.04 to 2.17], P = 0.032). The effect of air quality on adverse respiratory events was significantly modified by reactive airways disease status (1.56 [1.02 to 2.40], P = 0.041). CONCLUSIONS: Pediatric patients with underlying risk factors for respiratory complications under general anesthesia had a greater incidence of adverse respiratory events during periods of unhealthy air quality caused by wildfire smoke. In this vulnerable patient population, postponing elective anesthetics should be considered when air quality is poor.

Clinical outcomes and visual prognostic factors in congenital aniridia.

BACKGROUND: Evaluate outcomes and identify prognostic factors in congenital aniridia. METHODS: Retrospective interventional case series of patients with congenital aniridia treated between 2012-2020. Ocular examination and surgical details were collected. Surgical failure was defined as disease progression or need for additional surgery for same/related indication. Kaplan-Meier survival curves, Wilcoxon test, and univariate and multivariate linear regression analyses were performed. RESULTS: Ninety-four patients with congenital aniridia presented at median 19.0 years. Two-thirds of patients underwent ≥ 1intraocular surgery, with average of 1.7 ± 2.3 surgeries/eye. At final follow-up (median 4.0 years), 45% of eyes had undergone lensectomy. Aphakic eyes showed worse visual acuity (VA) than phakic or pseudophakic eyes. Glaucoma affected 52% of eyes, of which half required IOP-lowering surgery. Glaucoma drainage devices showed the highest success rate (71%) at 14.2 ± 15.4 years of follow-up. Keratopathy affected 65% of eyes and one-third underwent corneal surgery. Keratoprosthesis had the longest survival rates at 10-years (64% with 95% CI [32,84]). LogMAR VA at presentation and final follow-up were not statistically different. Half of patients were legally blind at final follow-up. Final VA was associated with presenting VA, glaucoma diagnosis, and cataract or keratopathy at presentation. Penetrating keratoplasty and keratoprosthesis implantation correlated with worse BCVA. CONCLUSIONS: Most aniridic patients in this large US-based cohort underwent at least 1 intraocular surgery. Cataract, glaucoma, and keratopathy were associated with worse VA and are important prognostic factors to consider when managing congenital aniridia.

Single Versus Double Venous Anastomosis Microvascular Free Flaps for Head and Neck Reconstruction.

ABSTRACT: Venous congestion accounts for most microvascular free tissue flaps failures. Given the lack of consensus on the use of single versus dual venous outflow, the authors present our institutional experience with 1 versus 2 vein anastomoses in microvascular free flap for head and neck reconstruction. A retrospective chart review was performed on all patients undergoing free flaps for head and neck reconstruction at our institution between 2008 and 2020. The authors included patients who underwent anterolateral thigh, radial forearm free flap, or fibula free flaps. The authors classified patients based on the number of venous anastomoses used and compared complication rates. A total of 279 patients with a mean age of 55.11 years (standard deviation 19.31) were included. One hundred sixty-eight patients (60.2%) underwent fibula free flaps, 59 (21.1%) anterolateral thigh, and 52 (18.6%) radial forearm free flap. The majority of patients were American Society of Anesthesiologists classification III or higher (N = 158, 56.6%) and had history of radiation (N = 156, 55.9%). Most flaps were performed using a single venous anastomosis (83.8%). Univariate analysis of postoperative outcomes demonstrated no significant differences in overall complications (P = 0.788), flap failure (P = 1.0), return to the Operating Room (OR) (P = 1.0), hematoma (P = 0.225), length of hospital stay (P = 0.725), or venous congestion (P = 0.479). In our cohort, the rate of venous congestion was not statistically different between flaps with 1 and 2 venous anastomoses. Decision to perform a second venous anastomoses should be guided by anatomical location, vessel lie, flap size, and intraoperative visual assessment.

Ologen augmentation of Ahmed glaucoma drainage devices in pediatric glaucomas.

BACKGROUND: Limited data exists on the effectiveness of the collagen matrix, Ologen, on increasing Ahmed glaucoma valve (AGV) success in childhood glaucomas. METHODS: Ocular examination and surgical details of pediatric patients who underwent AGV placement ± Ologen augmentation between 2012 and 2020. Complete success was defined as intraocular pressure (IOP) between 5 and 20 mmHg without glaucoma medications and additional IOP-lowering surgeries. Qualified success was defined as above, except IOP control maintained with or without glaucoma medications. RESULTS: Twenty-two eyes of 16 patients underwent AGV placement of which 6 eyes had Ologen-augmentation (OAGV) and 16 eyes had conventional surgery (CAGV). Average age was 6.4 ± 5.1 years with 4.2 ± 2.5 follow-up years. There was no difference in age, number of previous surgeries, and preoperative IOP and glaucoma medications. At final follow-up, success rate was 100% (5 eyes complete, 6 eyes qualified) in the OAGV group compared to 31% (0 eyes complete, 5 eyes qualified) in the CAGV group. One and two-year survival rates were 100% for OAGV compared to 62 and 38% for CAGV. Postoperative IOP was significantly lower at 1-month and final follow-up (p = 0.02) as was the number of glaucoma medications at 3, 6, 12-months and final follow-up (p < 0.05) in the OAGV group. CONCLUSIONS: Ologen-augmentation increased the success and survival rates of AGVs in childhood glaucomas. Further, Ologen mitigated the hypertensive phase and decreased medication dependency. Longer follow-up with a greater number of eyes is required to fully evaluate the effectiveness of OAGV.

Breaking Down Silos: Collaboration in Head and Neck Reconstruction Research.

BACKGROUND: Collaboration has been shown to be beneficial when we have complex problems and highly specialized groups, such as in head and neck reconstruction. Otolaryngology, plastic surgery, and oral maxillofacial surgeons perform head and neck reconstruction research. While the specialties represent unique backgrounds, the degree of interdisciplinary collaboration and subtopic focus is unknown. We sought to describe the frequency of interinstitutional interdisciplinary collaboration and examine the association of specialty with research subtopics. METHODS: Oral presentations from 2014 to 2018 focused on head and neck reconstruction or associated principles at the main reconstructive academic meetings in otolaryngology (American Head and Neck Society), plastic surgery (American Society for Reconstructive Microsurgery), and oral maxillofacial surgery (American Association of Oral and Maxillofacial Surgeons) were reviewed. Author specialty and institution data were recorded. All abstracts were assigned a research subtopic, chosen based on identified themes. Subtopic frequencies among the specialties were compared. RESULTS: Thirteen of 88 (15%) US institutions participate in interdisciplinary collaboration in head and neck reconstruction research. Of the remaining institutions, 23 (31%) have researchers performing parallel work and not collaborating. Certain research subtopics were more often presented by each specialty, representing differing interests. CONCLUSION: Collaboration among head and neck reconstruction research at the US institutions is low compared with the potential. Specialties focus on different research subtopics, and therefore can benefit from working together.

Review of Flap Monitoring Technology in 2020.

Advances in free flap reconstruction of complex head and neck defects have allowed for improved outcomes in the management of head and neck cancer. Technical refinements have decreased flap loss rate to less than 4%. However, the potential for flap failure exists at multiple levels, ranging from flap harvest and inset to pedicle lay and postoperative patient and positioning factors. While conventional methods of free flap monitoring (reliant on physical examination) remain the most frequently used, additional adjunctive methods have been developed. Herein we describe the various modalities of both invasive and noninvasive free flap monitoring available to date. Still, further prospective studies are needed to compare the various invasive and noninvasive technologies and to propel innovations to support the early recognition of vascular compromise with the goal of even greater rates of flap salvage.

Alexis Retractor: Institutional Experience of Its Applications in Head and Neck Surgery and Review of the Literature.

BACKGROUND: The Alexis retractor is a device that provides simultaneous radial retraction and wound protection during surgical procedures. Although typically used in abdominal and pelvic surgeries, there has been increased development of novel operative techniques utilizing the Alexis retractors in head and neck surgeries. METHODS: We describe 2 cases of utilizing the Alexis retractor to attain transoral exposure in the setting of free flap reconstruction of intraoral defects. RESULTS: In both cases, the Alexis retractor provided improved retraction, decreasing the number of instruments required for adequate exposure. Additionally, the polyurethane sheath component acted as a protective membrane over the lips and mucosa. CONCLUSIONS: The Alexis retractor can be a powerful retraction tool for certain surgical procedures involving the head and neck regions.

Leveraging variable sensor spatial acuity with a homogeneous, multi-scale place recognition framework.

Most robot navigation systems perform place recognition using a single-sensor modality and one, or at most two heterogeneous map scales. In contrast, mammals perform navigation by combining sensing from a wide variety of modalities including vision, auditory, olfactory and tactile senses with a multi-scale, homogeneous neural map of the environment. In this paper, we develop a multi-scale, multi-sensor system for mapping and place recognition that combines spatial localization hypotheses at different spatial scales from multiple different sensors to calculate an overall place recognition estimate. We evaluate the system's performance over three repeated 1.5-km day and night journeys across a university campus spanning outdoor and multi-level indoor environments, incorporating camera, WiFi and barometric sensory information. The system outperforms a conventional camera-only localization system, with the results demonstrating not only how combining multiple sensing modalities together improves performance, but also how combining these sensing modalities over multiple scales further improves performance over a single-scale approach. The multi-scale mapping framework enables us to analyze the naturally varying spatial acuity of different sensing modalities, revealing how the multi-scale approach captures each sensing modality at its optimal operation point where a single-scale approach does not, and enables us to then weight sensor contributions at different scales based on their utility for place recognition at that scale.

A survey of variables used by speech-language pathologists to assess function and predict functional recovery in oral cancer patients.

Oromotor and clinical swallow assessments are routinely performed by speech-language pathologists (SLPs) who see head and neck cancer (HNC) patients. However, the tools used to assess some of these variables vary. SLPs routinely identify and quantify abnormal functioning in order to rehabilitate the patient. However, function in terms of tongue range of motion (ROM) is typically described using a subjective severity rating scale. The primary objective of this study was to gain insight via survey into what variables SLPs consider important in assessing and documenting function after HNC treatment. A second objective was to seek feedback regarding a scale designed by the authors for assessing tongue ROM for this cohort of patients. This survey also was developed to elucidate salient factors that might have an impact on the prognosis for speech and swallow outcomes. Of the 1,816 SLPs who were sent the survey, 292 responded who work with HNC patients. Results revealed that although 95 % of SLPs assess tongue strength, only 13 % use instrumental methods. Although 98 % assess tongue ROM, 88 % estimate ROM based on clinical assessment. The majority of respondents agreed with the utility of the proposed tongue ROM rating scale. Several variables were identified by respondents as having an impact on overall prognosis for speech and swallow functioning. Tracking progress and change in function with treatment can be accomplished only with measurable assessment techniques. Furthermore, a consistent measuring system can benefit patients with other diagnoses that affect lingual mobility and strength.

Factors and outcomes associated with corneal edema and Haabs striae in primary congenital glaucoma.

PURPOSE: To identify specific factors and outcomes associated with corneal edema and Haabs striae in primary congenital glaucoma (PCG). METHODS: The medical records of patients with PCG from 2011 to 2023 with >3 months' follow-up were reviewed retrospectively. Preoperative details and final outcomes were compared between eyes with and without corneal findings. The right eye of bilateral cases and the affected eye in unilateral cases were included. RESULTS: A total of 58 patients (104 eyes, 69% male) underwent initial angle surgery at an average age of 297 ± 368 (median, 134) days. Corneal edema and Haabs striae were present preoperatively in 72 (69%) eyes of 41 patients and 68 (65%) eyes of 39 patients, respectively. Patients with corneal edema presented at a younger age (P < 0.0001) and with shorter axial length (P = 0.01) than those without edema. Univariate analysis showed that corneal edema was associated with worse visual acuity at final follow-up (OR = 4.4; 95% CI, 1.2-25.3). Patients with Haabs striae were older than those without striae (P = 0.04). After angle surgery, corneal edema was present at 1 month in 71% (95% CI, 52-84), at 2 months in 26% (95% CI, 12-42), at 3 months in 16% (95% CI, 6-30), and at 1 year in 3% (95% CI, 0-13). Corneal opacification did not resolve in 4 eyes of 3 patients after >4 years of follow-up. CONCLUSIONS: In our study cohort, corneal edema resolved in the majority of PCG cases within 2-3 months of initial angle surgery but was associated with younger age at presentation and worse visual acuity at final follow-up.

Conjunctival Apocrine Hidrocystoma: A Case Report and Review of Literature.

PURPOSE: To describe the clinical features of a conjunctival apocrine hidrocystoma that developed 6 decades after a strabismus surgery and review existing literature on apocrine hidrocystomas of the conjunctiva and caruncle. METHODS: Case report and review of literature on conjunctival apocrine hidrocystomas. RESULTS: A 71-year-old man with a history of strabismus surgery as a child presented with a cystic lesion on the nasal conjunctiva and caruncle for 1 year. Excision of the lesion showed a unilocular cavity lined by a double layer of cells with the hallmark finding of apical decapitations, confirming a diagnosis of apocrine hidrocystoma. Seven additional cases of conjunctival and caruncular apocrine hidrocystomas were reviewed. All cases presented after 50 year of age. Most cases presented nasally or within the caruncle and had a pigmented appearance. No other reported cases had a history of trauma or surgery. All cases were treated with surgical excision without recurrence. CONCLUSIONS: History of strabismus surgery or conjunctival trauma may lead to ectopic deposition of apocrine glands that may contribute to the formation of an apocrine hidrocystoma.

Management of Enlarging Tracheoesophageal Fistula with Voice Prosthesis in Laryngectomized Patients.

Management of Enlarging tracheoesophageal fistula (TEF) with Voice Prosthesis in Laryngectomized Head and Neck Cancer Patients. OBJECTIVES: An enlarging TEF following voice prosthesis placement impacts patient quality of life, risks airway compromise, and can lead to aspiration pneumonia. Pharyngoesophageal strictures have previously been reported to be associated with TEF enlargement and leakage. We describe a series of patients with enlarging TEFs after Tracheoesophageal puncture (TEP) for voice prosthesis who required pharyngoesophageal reconstruction. METHODS: Retrospective case series of laryngectomized H&N cancer patients with primary or secondary TEP who underwent surgical management for enlarging TEF site between 6/2016-11/2022. RESULTS: Eight patients were included. The mean age was 62.8 years old. Seven patients had a history of hypothyroidism. Of seven with prior H&N radiation history, two had both historical and adjuvant radiation. Two of the eight TEPs were placed secondarily. Mean time from TEP to enlarging TEF diagnosis was 891.3 days. Radial forearm-free flaps were used in five patients. Six had stenosis proximal to the TEF whereas one had distal stenosis and one had no evidence of stenosis. Mean length of stay was 12.3 days. Mean follow-up was 400.4 days. Two required a second free flap for persistent fistula. CONCLUSION: Surgical reconstruction of enlarging TEFs due to TEP/VP placement is effective in combination with addressing underlying pharyngeal/esophageal stenosis contributing to TEF enlargement and leakage. Radial forearm-free flaps have the additional benefit of a long vascular pedicle to access more distant and less-irradiated recipient vessels. Many fistulae are resolved after the first flap reconstruction, but some may require subsequent reconstruction in case of failure. LEVEL OF EVIDENCE: 4 Laryngoscope, 134:198-206, 2024.

A Preliminary Validation of an Optimal Cutpoint in Total Number of Patient-Reported Symptoms in Head and Neck Cancer for Effective Alignment of Clinical Resources with Patients' Symptom Burden.

Background: Patients with head and neck cancer (HNC) often experience high symptom burden leading to lower quality of life (QoL). Objective: This study aims to conceptually model optimal cutpoint by examining where total number of patient-reported symptoms exceeds patients' coping capacity, leading to a decline in QoL in patients with HNC. Methods: Secondary data analysis of 105 individuals with HNC enrolled in a clinical usefulness study of the NYU Electronic Patient Visit Assessment (ePVA)©, a digital patient-reported symptom measure. Patients completed ePVA and European Organization for Research and Treatment of Cancer (EORTC©) QLQ-C30 v3.0. The total number of patient-reported symptoms was the sum of symptoms as identified by the ePVA questionnaire. Analysis of variance (ANOVA) was used to define optimal cutpoint. Results: Study participants had a mean age of 61.5, were primarily male (67.6%), and had Stage IV HNC (53.3%). The cutpoint of 10 symptoms was associated with significant decline of QoL (F= 44.8, P<.0001), dividing the population into categories of low symptom burden (< 10 symptoms) and high symptom burden (≥ 10 symptoms). Analyses of EORTC© function subscales supported the validity of 10 symptoms as the optimal cutpoint (Physical: F=28.3, P<.0001; Role: F=21.6, P<.0001; Emotional: F=9.5, P=.003; Social: F=33.1, P<.0001). Conclusions: In HNC, defining optimal cutpoints in the total number of patient-reported symptoms is feasible. Implications for Practice: Cutpoints in the total number of patient-reported symptoms may identify patients experiencing a high symptom burden from HNC. Foundational: Using optimal cutpoints of the total number of patient-reported symptoms may help effectively align clinical resources with patients' symptom burden.

Tongue strength as a predictor of functional outcomes and quality of life after tongue cancer surgery.

OBJECTIVES: Surgical resection of oral cancer can result in altered speech, swallowing, and quality of life (QOL). To date, the oral outcome variables of tongue strength, tongue and jaw range of motion, and saliva production have not been extensively assessed. This pilot study was done to assess tongue strength along with other oral outcomes and their relationship to performance status for speech, swallowing, and QOL after partial glossectomy. Our aim was to create a norm for what should be considered a normal tongue strength value in this population. We hypothesized that patients with tongue strength of 30 kPa or greater would perform better on the performance status scale and various QOL measures than do patients with tongue strength of less than 30 kPa. METHODS: We used a cross-sectional design in this study. The postoperative assessment included 1) Performance Status Scale and Karnofsky Performance Status Scale; 2) oral outcome variables of tongue strength, jaw range of motion. and saliva production; and 3) patient-rated QOL ratings via Eating Assessment Tool, M. D. Anderson Dysphagia Inventory, EORTC-H&N35, and Speech Handicap Index. RESULTS: Patients with tongue strength of at least 30 kPa performed better on the performance status scales and various QOL measures. The cutoff score of 30 kPa for tongue strength measures revealed a trend in predicting performance on the scales and QOL measures. CONCLUSIONS: The oral outcome variables correlated with performance status for speech, swallowing, and QOL. We propose a norm for tongue strength in this population, based on the trend seen in this group of patients, as none previously existed. Future studies are under way that incorporate a larger sample size to further validate this norm. Future studies will also examine oral functional outcome measures in a larger population by inclu'ding other oral and oropharyngeal sites to help predict speech and swallow performance status and QOL.

Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.

Stickler Syndrome is typically characterized by ophthalmic manifestations including vitreous degeneration and axial lengthening that predispose to retinal detachment. Systemic findings consist of micrognathia, cleft palate, sensorineural hearing loss, and joint abnormalities. COL2A1 mutations are the most common, however, there is a lack of genotype-phenotype correlations. Retrospective, single-center case series of a three-generation family. Clinical features, surgical requirements, systemic manifestations, and genetic evaluations were collected. Eight individuals clinically displayed Stickler Syndrome, seven of whom had genetic confirmation, and two different COL2A1 mutations (c.3641delC and c.3853G>T) were identified. Both mutations affect exon 51, but display distinct phenotypes. The c.3641delC frameshift mutation resulted in high myopia and associated vitreous and retinal findings. Individuals with the c.3853G>T missense mutation exhibited joint abnormalities, but mild ocular manifestations. One individual in the third generation was biallelic heterozygous for both COL2A1 mutations and showed ocular and joint findings in addition to autism and severe developmental delay. These COL2A1 mutations exhibited distinct eye vs. joint manifestations. The molecular basis for these phenotypic differences remains unknown and demonstrates the need for deep phenotyping in patients with Stickler syndrome to correlate COL2A1 gene function and expression with ocular and systemic findings.

Parental knowledge and behaviors related to prevention and early detection of eye problems in US children.

We documented parental knowledge and actions around children's eye health using a cross-sectional, nationally representative survey of parents of children 3-18 years of age. Parents more frequently reported their child's vision was tested at a primary care visit than school, and many were unsure whether their child received school vision testing. One in 10 children with a possible eye problem had not seen an eye doctor in the previous 2 years. Many parents do not have their child wear eye protection during high-risk activities.

Barriers and facilitators of vision screening in the US pediatric primary care setting: a mixed methods systematic review protocol.

OBJECTIVE: The objective of this review is to understand the barriers and facilitators of vision screening in the US primary care setting for children aged 3 to 17 years. INTRODUCTION: Childhood vision screening is crucial because it detects children at risk of undiagnosed vision problems. Previous studies report low rates of appropriate vision screening in the primary care setting. We aim to identify barriers and facilitators of pediatric primary care vision screening to inform future interventions to improve childhood vision screening. INCLUSION CRITERIA: Studies of all types that identify barriers and facilitators of vision screening in children aged 3 to 17 years in the pediatric primary care setting in the US will be considered for inclusion. METHODS: We will search PubMed, CINAHL Complete (EBSCO), Scopus, Web of Science (SCI-EXPANDED, ESCI, CPCI-S, SSCI), Cochrane Library, and Embase. We will also search gray literature, including conference proceedings, professional organization reports, and clinical trials. We will use supplemental search strategies, including citation tracking and contacting authors for unpublished data. Titles and abstracts will be screened independently by 2 reviewers and selected for full-text screening based on prespecified inclusion criteria. Only studies in English will be considered. Each included study will be appraised using the mixed methods appraisal tool. Data will be extracted using a modified JBI mixed methods data extraction form. Qualitative and quantitative data will be integrated using a convergent integrated approach. DETAILS OF THE REVIEW AVAILABLE AT: Open Science Framework https://osf.io/nhf5d/.