Pseudoxanthoma elasticum-associated angioid streaks near a scleral buckle.

Purpose: We report a patient with pseudoxanthoma elasticum (PXE) with angioid streaks near a scleral buckle site. Observations: A 46-year-old male with PXE presented for evaluation of blurry vision and was found to have classic PXE findings in both eyes and angioid streaks adjacent to the site of a scleral buckle in his left eye. He underwent multimodal imaging, genetic testing, and intravitreal aflibercept in the right eye. Conclusions and importance: Bruch's membrane is known to be fragile in PXE, and patients are often counseled about the heightened risk of playing contact sports. This report raises the question of whether tension from a scleral buckle in the setting of a calcified and brittle BM may increase the likelihood of angioid streaks near the buckle site. In the setting of retinal detachment, it may be worthwhile to carefully weigh the pros and cons of vitrectomy versus buckle for PXE patients.

Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.

Hypomorphic variants decrease, but do not eliminate, gene function via a reduction in the amount of mRNA or protein product produced by a gene or by production of a gene product with reduced function. Many hypomorphic variants have been implicated in inherited retinal diseases (IRDs) and other genetic ocular conditions; however, there is heterogeneity in the use of the term "hypomorphic" in the scientific literature. We searched for all hypomorphic variants reported to cause IRDs and ocular disorders. We also discuss the presence of hypomorphic variants in the patient population of our ocular genetics department over the past decade. We propose that standardized criteria should be adopted for use of the term "hypomorphic" to describe gene variants to improve genetic counseling and patient care outcomes.

Creating consistency in the diagnosis of convergence insufficiency: screening methods.

PURPOSE: To determine the sensitivity of various clinical tests in the diagnosis of convergence insufficiency. METHODS: A total of 254 patients were recruited with complaints consistent with convergence problems but no prior history of strabismus surgery, eye exercises, prism use, recent concussion, or other ocular or neurological diseases. Each patient completed the convergence insufficiency symptom survey (CISS), and the following data were collected: ocular alignment at distance and near, convergence and divergence fusional amplitudes at distance and near, near-point of convergence (NPC) using an accommodative target and red lens, and assessment of quality of convergence movement (QoCM) and quality of fusional movements (QoFM). The sensitivity of each clinical test was calculated. RESULTS: Measurement of NPC using red lens and subjective assessment of the QoCM and QoFM were the most sensitive diagnostic tools for near symptoms consistent with convergence insufficiency: 93.3%, 98.4%, and 94.5% respectively. CISS score, convergence fusional amplitude at near, and exophoria at near had lower sensitivities: 62.9%, 46.0%, and 72.0%, respectively. Although the majority of our patients had a heterophoria or heterotropia at distance (96.8%) and/or near (98.8%), most presented with only small phorias. Furthermore, of those who had a deviation at near, only 22% had the near exophoria exceeding the distance exophoria by 10Δ. CONCLUSIONS: In our study cohort, NPC with red lens and subjective assessment of QoCM and QoFM proved to be the most sensitive screening tools for near symptoms consistent with convergence insufficiency.

Visual acuity improvement in the amblyopic eye of a 50-year-old man following strabismus surgery.

It is generally believed that the visual acuity of an amblyopic eye cannot improve significantly in adulthood. However, there have been reports of this occurring following visual loss in the fellow eye. Best-corrected visual acuity improvement in amblyopic eyes of children with strabismic amblyopia following strabismus surgery has also been reported. We present the case of an adult whose visual acuity in his amblyopic eye improved 4 Snellen lines over 28 months following strabismus surgery.

The big warp: Registration of disparate retinal imaging modalities and an example overlay of ultrawide-field photos and en-face OCTA images.

PURPOSE: To develop an algorithm and scripts to combine disparate multimodal imaging modalities and show its use by overlaying en-face optical coherence tomography angiography (OCTA) images and Optos ultra-widefield (UWF) retinal images using the Fiji (ImageJ) plugin BigWarp. METHODS: Optos UWF images and Heidelberg en-face OCTA images were collected from various patients as part of their routine care. En-face OCTA images were generated and ten (10) images at varying retinal depths were exported. The Fiji plugin BigWarp was used to transform the Optos UWF image onto the en-face OCTA image using matching reference points in the retinal vasculature surrounding the macula. The images were then overlayed and stacked to create a series of ten combined Optos UWF and en-face OCTA images of increasing retinal depths. The first algorithm was modified to include two scripts that automatically aligned all the en-face OCTA images. RESULTS: The Optos UWF image could easily be transformed to the en-face OCTA images using BigWarp with common vessel branch point landmarks in the vasculature. The resulting warped Optos image was then successfully superimposed onto the ten Optos UWF images. The scripts more easily allowed for automatic overlay of the images. CONCLUSIONS: Optos UWF images can be successfully superimposed onto en-face OCTA images using freely available software that has been applied to ocular use. This synthesis of multimodal imaging may increase their potential diagnostic value. Script A is publicly available at https://doi.org/10.6084/m9.figshare.16879591.v1 and Script B is available at https://doi.org/10.6084/m9.figshare.17330048.

Comparing Gene Panels for Non-Retinal Indications: A Systematic Review.

IMPORTANCE: The options for genetic testing continue to grow for ocular conditions, including optic atrophy, anterior segment dysgenesis, cataracts, corneal dystrophy, nystagmus, and glaucoma. Gene panels can vary in content and coverage, as we and others have evaluated in inherited retinal disease (IRD). OBJECTIVE: To describe gene panel testing options for inherited eye disease phenotypes and their differences. This review is important for making diagnostic decisions. EVIDENCE REVIEW: A licensed, certified genetic counselor (RP) used Concert Genetics and the search terms optic atrophy, corneal dystrophy, cataract, glaucoma, anterior segment dysgenesis, microphthalmia/anophthalmia, and nystagmus to identify available testing options performed by CLIA-certified commercial genetic testing laboratories. Other co-authors were surveyed with respect to genetic panels used for the indications of interest. Ophthalmic panels were then compared using Concert Genetics in addition to their own websites. FINDINGS: Panels from each clinical category were included and summarized. This comparison highlighted the differences and similarities between panels so that clinicians can make informed decisions. CONCLUSIONS: Access to genetic testing is increasing. The diagnostic yield of genetic testing is increasing. Each panel is different, so phenotyping or characterizing clinical characteristics that may help predict a specific genotype, as well as pre-test hypotheses regarding a genotype, should shape the choice of panels.

Initial Investigations of Intrinsically Disordered Regions in Inherited Retinal Diseases.

Intrinsically disordered regions (IDRs) are protein regions that are unable to fold into stable tertiary structures, enabling their involvement in key signaling and regulatory functions via dynamic interactions with diverse binding partners. An understanding of IDRs and their association with biological function may help elucidate the pathogenesis of inherited retinal diseases (IRDs). The main focus of this work was to investigate the degree of disorder in 14 proteins implicated in IRDs and their relationship with the number of pathogenic missense variants. Metapredict, an accurate, high-performance predictor that reproduces consensus disorder scores, was used to probe the degree of disorder as a function of the amino acid sequence. Publicly available data on gnomAD and ClinVar was used to analyze the number of pathogenic missense variants. We show that proteins with an over-representation of missense variation exhibit a high degree of disorder, and proteins with a high amount of disorder tolerate a higher degree of missense variation. These proteins also exhibit a lower amount of pathogenic missense variants with respect to total missense variants. These data suggest that protein function may be related to the overall level of disorder and could be used to refine variant interpretation in IRDs.

Is There Gender Bias in Perceptions of Strabismus Among Adults?

PURPOSE: To investigate the effect of gender, type, and size of horizontal deviation on the perceived severity or need for intervention for strabismus among adults in the general population. METHODS: Eight photographs of individuals aged 25 to 35 years were digitally manipulated to create 30 prism diopters (PD) of exotropia, 30 PD of esotropia, 50 PD of exotropia, and 50 PD of esotropia in both men and women. A survey asked respondents to rank these photographs by their severity or need for intervention from 1 (greatest need) to 8 (least need) to assess for unconscious bias for gender, strabismus type, or deviation size. RESULTS: A total of 203 adult respondents completed the survey. Participants ranked men with both large esotropia and large exotropia (median rank = 1.5, interquartile range [IQR] = 1.5 to 1.5) as needing correction more urgently than similar women (median rank = 3.5, IQR = 3.5 to 4) (P < .0001). The median rank was 4 (IQR = 3.75 to 4.25) for all men combined and 5 (IQR = 4.75 to 5.25) for all women (P < .0001). Photographs with exotropia (median rank = 4, IQR = 3.75 to 4.5) were perceived as more severe than photographs with esotropia (median rank = 5, IQR = 4.5 to 5.25) (P < .0001). Respondents' gender, age, or history of strabismus did not significantly impact their rankings. CONCLUSIONS: Male photographs were perceived as having a greater need for strabismus intervention than female photographs despite similar type and size of deviations. Exotropia was perceived as more severe than esotropia for smaller deviations only. More studies on the perceptions of strabismus are needed to understand whether unconscious bias affects patient care. [J Pediatr Ophthalmol Strabismus. 2023;60(6):396-401.].

Understanding the Use of the Newcastle, PEDIG, and LACTOSE Control Scores Among Pediatric Ophthalmologists for Intermittent Exotropia.

PURPOSE: To determine the clinical use patterns of control scores for intermittent exotropia. The Newcastle Control Score, Pediatric Eye Disease Investigator Group (PEDIG) score, and Look And Cover, then Ten seconds of Observation Scale for Exotropia (LACTOSE) Control Score were developed to quantify control of exodeviations. METHODS: A short survey was posted on the American Association for Pediatric Ophthalmology and Strabismus forum in August and September 2021. Respondents were asked about their assessment of control in intermittent exotropia, including knowledge and use of the various control scales. RESULTS: One hundred fourteen pediatric ophthalmologists responded; 54.4% (n = 62) reported not using any specific control score for intermittent exotropia, although 61.4% (n = 70) were familiar with the PEDIG score, 37.7% (n = 43) with the Newcastle Control Score, and 7.9% (n = 9) with the LACTOSE Control Score. The PEDIG score was the most widely used (26.3%, n = 30), but 36.7% (n = 11) of respondents reported that the scale is too time-intensive, limiting its use. To improve the use of the control scores, participants recommended promoting wider understanding of the scales (45.6%, n = 52). CONCLUSIONS: Most responding pediatric ophthalmologists do not use a specific control score in managing intermittent exotropia. The PEDIG score is the most frequently used but is reported as time-intensive. Although the LACTOSE Control Score was designed to provide a quicker alternative, it is not widely known. Promoting wider awareness and understanding of intermittent exotropia control scores may be helpful to allow for more objective quantification of control in intermittent exotropia. [J Pediatr Ophthalmol Strabismus. 2023;60(2):131-138.].

Factors Affecting the Perception of Strabismus Among Pediatric Ophthalmologists.

PURPOSE: To define potential factors that influence the perceived urgency of strabismus surgery with a specific focus on the contributions of gender, degree of strabismus, and direction of strabismus. METHODS: An electronic survey was sent to members of the American Association for Pediatric Ophthalmology and Strabismus (AAPOS). Respondents provided demographic information and ranked eight photographs of adults digitally altered to create varying degrees of strabismus according to perceived urgency for surgery. RESULTS: Pediatric ophthalmologists ranked deviations of increasing size with increasing treatment urgency. Men were perceived with higher urgency for treatment compared to women in the smaller angles of strabismus. No consistent preference for type of deviation was found. CONCLUSIONS: The gender of the patient and the amount of misalignment may influence the urgency of surgical management among strabismus surgeons. [J Pediatr Ophthalmol Strabismus. 2023;60(4):257-262.].

The visual consequences of virtual school: acute eye symptoms in healthy children.

PURPOSE: To investigate acute eye symptoms in healthy children after a typical day of virtual school during the COVID-19 pandemic. METHODS: The study population included 110 healthy children 10-17 years of age who were enrolled in full-time or hybrid virtual school. Children with a history of central nervous system or ocular pathology, recent concussions, reported poor vision, convergence insufficiency, history of orthoptic therapy, strabismus, amblyopia, or learning disorders were excluded. Background information was collected, including demographics, family and personal ocular history, and virtual school specifications. Eligible children completed a modified convergence insufficiency symptom survey (CISS) and an asthenopia survey before and after a virtual school session. CISS and asthenopia survey symptoms were scored, and the differences in symptomatology before and after school were calculated. RESULTS: The average sum of the CISS scores increased from 5.17 before school to 9.82 after (P < 0.001), with 61% of children recording an increase in convergence insufficiency symptoms and 17% experiencing severe convergence insufficiency symptoms after school. Average asthenopia symptom scores increased from 1.58 to 2.74 (P < 0.001), with 53% of children recording an increase in asthenopia symptoms. Significant increases were seen in 12 of 15 CISS questions and in 4 of 5 asthenopia questions. CONCLUSIONS: In this study cohort, otherwise healthy children experienced acute ocular symptoms following virtual school.

Practice Patterns of Pediatric Ophthalmologists During the COVID-19 Pandemic.

PURPOSE: To report the use of protective personal equipment (PPE) during the coronavirus disease 2019 (COVID-19) pandemic. METHODS: A 12-question multiple-choice survey was posted on a discussion board used by members of the American Association for Pediatric Ophthalmology and Strabismus (AAPOS). Respondents provided information about their experience, PPE use, office equipment, and approach to care during the COVID-19 pandemic. RESULTS: One hundred twenty-eight pediatric ophthalmologists completed the survey. Eighty-seven (68.0%) identified as in private practice, whereas 41 (32.0%) identified as in an academic setting. Sixty-nine pediatric ophthalmologists (53.9%) reported routinely using N95 respirators, 72 (56.3%) reported wearing medical scrubs, 41 (32.0%) reported using disposable gloves, 33 (25.7%) reported wearing goggles, and 12 (9.4%) reported using face shields during office examinations. One hundred twenty-one pediatric ophthalmologists (94.5%) reported having slit lamps with plastic shields and 52 (40.6%) reported having phoropters with plastic shields. Ninety-nine (77.3%) responded that they would see a patient older than 2 years who refused to wear a mask for a nonemergency visit. CONCLUSIONS: Practice patterns of pediatric ophthalmologists have varied during the COVID-19 pandemic. [J Pediatr Ophthalmol Strabismus. 2022;59(3):145-150.].

A prospective study of treatments for adult-onset divergence insufficiency-type esotropia.

PURPOSE: To describe 10-week and 12-month outcomes following treatment for divergence insufficiency-type esotropia in adults. METHODS: In this prospective observational study, 110 adults with divergence insufficiency-type esotropia, with a distance esodeviation measuring 2Δ to 30Δ and at least 25% larger at distance than near, and binocular diplopia present at least "sometimes" at distance, were enrolled at 28 sites when initiating new treatment. Surgery, prism, or divergence exercises/therapy were chosen at the investigator's discretion. Diplopia was assessed at enrollment and at 10-week and 12-month outcome examinations using a standardized diplopia questionnaire (DQ). Success was defined as DQ responses of "rarely" or "never" when looking straight ahead in the distance, with no alternative treatment initiated. RESULTS: Of the 110 participants, 32 (29%) were prescribed base-out prism; none had received prior treatment for esotropia. Success criteria were met by 22 of 30 at 10 weeks (73%; 95% CI, 54%-88%) and by 16 of 26 at 12 months (62%; 95% CI, 41%-80%). For the 76 (68%) who underwent strabismus surgery (82% of whom had been previously treated with prism), success criteria were met by 69 of 74 at 10 weeks (93%; 95% CI, 85%-98%) and by 57 of 72 at 12 months (79%; 95% CI, 68%-88%). CONCLUSIONS: In this study cohort, both base-out prism as initial therapy and strabismus surgery (usually following prism) were successful in treating diplopia for most adults with divergence insufficiency-type esotropia when assessed during the first year of follow-up.

Anterior Segment Optical Coherence Tomography in Locating the Insertion of Horizontal Extraocular Muscles After Strabismus Surgery.

PURPOSE: To evaluate the accuracy of anterior segment optical coherence tomography (AS-OCT) for locating horizontal extraocular muscle (EOM) insertion after strabismus surgery. METHODS: The distance from the limbus to the postoperative muscle insertion was measured with calipers intraoperatively and by AS-OCT during the postoperative visit of adults undergoing strabismus surgery. Images were collected by masked technicians. Intraclass correlation coefficients (ICC) were used to evaluate the agreement between measurements. RESULTS: Twenty-eight patients were recruited. Measurements were taken from 31 eyes, including 17 lateral and 14 medial rectus muscles. EOM insertion was successfully identified by AS-OCT for 14 (45%) cases. The ICC between intra-operative and AS-OCT measurement was 0.886 when the distance from the limbus to the insertion of EOM was less than 8 mm and 0.001 when the distance from the limbus was between 8 and 10 mm. EOM insertion was undetectable if distance to the limbus was greater than 10 mm. CONCLUSIONS: AS-OCT can accurately identify post-surgical horizontal muscle insertion if the insertion is less than 8 mm from the limbus. [J Pediatr Ophthalmol Strabismus. 2021;58(1):62-65.].

Ergonomics in strabismus surgery.

PURPOSE OF REVIEW: Although much has been written regarding ergonomics in ophthalmology, little information is available regarding the specific ergonomic concerns of pediatric ophthalmology and in particular, of strabismus surgery. This article will summarize current findings pertaining to musculoskeletal disorders in ophthalmology and review their implications for strabismus surgeons. RECENT FINDINGS: Optical motion capture is a promising alternative to older qualitative and quantitative methods for evaluating ergonomic posture. Recent studies support the need for training to reduce work-related musculoskeletal disorders.

Inconsistent diagnostic criteria for convergence insufficiency.

BACKGROUND: Convergence insufficiency (CI) is a common entity but seems to be an ill-defined diagnosis that incorporates many near-vision symptoms. The current literature often varies in its criteria for diagnosis. Without a clear definition and standardization of the clinical examination, there is the potential for misdiagnosis and/or the inclusion of other diagnoses as CI. The purpose of this study was to assess the uniformity of diagnostic criteria in a well-defined practice environment. METHODS: The medical records of individuals diagnosed with CI between June 2007 and November 2014 who were patients of 6 fellowship-trained strabismologists in private practices and at Wills Eye Hospital clinics were reviewed retrospectively. Exclusion criteria included any previous treatments for CI, prior strabismus surgery, or other causes for strabismus, including cranial nerve palsies. The following data were collected: age, sex, race, age at diagnosis, past medical and family history, relevant symptoms, visual acuity, near point of convergence (NPC), strabismus measurements, and fusional amplitudes at distance with base-out and base-in prisms. RESULTS: A total of 387 patients fit our inclusion criteria and were analyzed in our study. There was no uniformity across clinicians in the clinical evaluation and diagnosis of patients with CI. The amplitude of the NPC was highly variable, and most clinicians did not assess the quality of the convergence movement or perform convergence fusional amplitude testing in making the diagnosis of CI. CONCLUSIONS: Our review has demonstrated the range of criteria within one group of practitioners to diagnose CI. This may reflect our current understanding and the need for an evidence-based definition of the disease and its diagnosis.

A pilot study using electronic reminders for amblyopia treatment.

Treatment compliance is the most important factor for predicting a successful outcome in amblyopia treatment. Electronic applications have been successfully employed in other medical conditions in an effort to improve compliance.Aim: To determine whether a smartphone medical adherence application (app) (RxmindMe® Prescription/Medicine Reminder and Pill Tracker) may be successfully incorporated into the treatment plan of patients 3-7 years of age who have not previously been treated for amblyopia.Methods: Children 3-7 years of age were randomized to receive electronic reminders (reminders group) or standard instructions (control group). Visual acuity and compliance with treatment was assessed at the first follow-up visit. The child's adherence with the prescribed treatment was calculated as the reported number of hours of patching performed divided by the number of hours prescribed or compliance percentage. The validated "Amblyopia Treatment Index Parental Questionnaire" was administered to the parent/guardian to assess any differences in the compliance subscale between the two treatment groups. Any difficulties encountered with the use of the reminder app were also recorded at the follow-up visit.Results: Twenty-four participants were enrolled. Twelve participants in the reminder group (eight female, four male; mean age 4.5 ± 1.3) were compared with 12 participants in the control group (five female, seven male; mean 4.8 ± 1.1). No significant differences were found between the two groups in terms of age (p = 0.62), gender (p = 0.22), or degree of amblyopia at the start of treatment (p = 0.99). Eleven of 12 participants in the reminders group were able to incorporate the reminder app into amblyopia treatment. No participant reported malfunction of the alarm portion of the reminder app. There was no significant difference seen in degree of visual acuity improvement, reported percentage compliance or effect on the compliance subscale as assessed by the ATI questionnaire. Several participants reported the app to be "helpful" in initiating treatment.Conclusion: Our findings indicate that use of a smartphone app is feasible in this patient population. Targeting the app to specific patient demographics or when difficulty with compliance is encountered needs to be further investigated.

The role of imaging in strabismus.

PURPOSE OF REVIEW: To review the most recent literature regarding the clinical experience of imaging modalities in strabismus. RECENT FINDINGS: MRI of extraocular muscles (EOMs) has elucidated the roles of variation in compartmental contraction of EOMs and further evidence of EOM pulley heterotopy in various strabismus patterns, which may contribute to the clinical and surgical management of patients as this mode of imaging becomes more readily available. Ultrasound biomicroscopy (UBM) and anterior-segment optical coherence tomography (AS-OCT) may play a role in determining the location of EOMs which could also aid in devising a preoperative surgical plan, especially in those who have had prior strabismus surgery. SUMMARY: Although MRI, UBM, and AS-OCT show promise in the formulation of a treatment plan in complex strabismus, more research regarding the role and limitations of these imaging modalities is required before they become the mainstay of strabismus evaluation.