Signal peptide (SP) mutations are an infrequent cause of inherited retinal diseases (IRDs). We report the genes currently associated with an IRD that possess an SP sequence and assess the prevalence of these variants in a multi-institutional retrospective review of clinical genetic testing records. The online databases, RetNet and UniProt, were used to determine which IRD genes possess a SP. A multicenter retrospective review was performed to retrieve cases of patients with a confirmed diagnosis of an IRD and a concurrent SP variant. In silico evaluations were performed with MutPred, MutationTaster, and the signal peptide prediction tool, SignalP 6.0. SignalP 6.0 was further used to determine the locations of the three SP regions in each gene: the N-terminal region, hydrophobic core, and C-terminal region. Fifty-six (56) genes currently associated with an IRD possess a SP sequence. Based on the records review, a total of 505 variants were present in the 56 SP-possessing genes. Six (1.18%) of these variants were within the SP sequence and likely associated with the patients’ disease based on in silico predictions and clinical correlation. These six SP variants were in the CRB1 (early-onset retinal dystrophy), NDP (familial exudative vitreoretinopathy) (FEVR), FZD4 (FEVR), EYS (retinitis pigmentosa), and RS1 (X-linked juvenile retinoschisis) genes. It is important to be aware of SP mutations as an exceedingly rare cause of IRDs. Future studies will help refine our understanding of their role in each disease process and assess therapeutic approaches.

Purpose: To identify new patient, follow-up, and surgery appointment wait times for children seeking care at academic eye centers/children's hospitals (AEC/CHs) in the setting of very low Medicaid reimbursements and workforce issues in pediatric ophthalmology. Methods: Each state in the United States with AEC/CHs was contacted by phone or email. Using a standardized script, the authors inquired about approximate wait times for non-emergency new patient, follow-up, and surgery appointment times, as well as percentage of patients insured by Medicaid seen at the AEC/CH. Medicaid reimbursements for new patient visits, follow-up visits, sensorimotor examinations, and one-muscle strabismus surgery were examined for each state. Results: The mean percentage of children enrolled in Medicaid across the United States was 38.0%. Appointment and Medicaid inquiry calls were conducted across 41 states. Mean wait times across the United States for new patient, follow-up, and surgery appointments were 3.9, 3.4, and 2.7 months, respectively. Mean percentage of patients insured by Medicaid at AEC/CHs was 57.1%. High Medicaid-insured states offered longer wait times for new patient appointments than low Medicaid-insured states (4.4 versus 3.5 months; P = .20). The lowest Medicaid reimbursements for new patient visit, follow-up visit, sensorimotor examination, and one-muscle strabismus surgery occurred in Illinois, California, Ohio, and Michigan, respectively. Conclusions: Across the United States, states with higher percentages of patients insured by Medicaid exhibited longer new patient appointment wait times, suggesting that challenges related to Medicaid reimbursements directly contribute to disparities in access to pediatric eye care. [ J Pediatr Ophthalmol Strabismus . 2023;60(3):170–177.]

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.]

Purpose: To describe a case series of extraocular muscle (EOM) disinsertions, discuss the indications for muscle disinsertion, and examine deviation outcomes. Methods: All consecutive patients who underwent EOM disinsertion by one surgeon from 2013 to 2021 were included in the study. Age, sex, best corrected visual acuity, diagnosis, preoperative deviation, postoperative deviation, and follow-up interval were recorded. Results: Twelve patients (13 eyes) underwent EOM disinsertion. Ten were men and two were women. Eight eyes had an abducens nerve (cranial nerve 6) palsy, four had thyroid eye disease, and one had an oculomotor nerve palsy (cranial nerve 3). Preoperatively, the average age was 57.7 years, best corrected visual acuity was 0.24 logarithm of the minimum angle of resolution (logMAR) in the right eye and 0.35 logMAR in the left eye, and deviation was 56.4 prism diopters (PD). The average postoperative residual deviation was 5.3 PD with an average follow-up time of 290 days. Four patients underwent reoperation, one of whom underwent a third surgery. Conclusions: EOM disinsertion is an effective treatment in certain specific strabismus conditions. Patients who may benefit are those with a severe cranial nerve 6 palsy who cannot abduct the eye even to the midline and those with thyroid eye disease whose EOMs are so tight intraoperatively that even a small hook cannot be easily passed under the operative muscle adequately to perform a large recession technique. [ J Pediatr Ophthalmol Strabismus . 20XX;X(X):XX–XX.]

Purpose: To create a survey that examines remaining unanswered questions related to the economic and workforce issues in pediatric ophthalmology. Methods: A 12-question survey was distributed to U.S.–based pediatric ophthalmologists on the American Association for Pediatric Ophthalmology and Strabismus (AAPOS) discussion board and various other social media forums. Statistical analysis was performed on the basis of practice setting groups. Results: Two hundred eighty-seven pediatric ophthalmologists completed the survey. Of all respondents, 150 (52.3%) believed pediatric ophthalmology is a prestigious subspecialty, 137 (47.7%) thought that a hybrid fellowship combining pediatric ophthalmology and adult cataract surgery would increase the number of practicing pediatric ophthalmologists, 189 (65.9%) felt that early exposure during medical school would increase the number of residents who ultimately apply to pediatric ophthalmology fellowship, and 81 (28.2%) believed that the lobbyists hired by the AAPOS will be successful in preventing further Centers for Medicare and Medicaid Services reimbursement cuts. Medicaid patients comprised more than 25% of the total practice for 156 (54.4%) respondents. New patient, follow-up, and surgery wait times were greater than 2 months in 50.9%, 46.7%, and 38.7% of respondents, respectively. Conclusions: As the economic crisis in pediatric ophthalmology continues to worsen, questions related to increasing interest in the field through early exposure, hybrid fellowship, prestige, appointment wait times, and belief in the success of AAPOS lobbyists remain. Exceptional measures are required to revitalize the field and improve access to care. [ J Pediatr Ophthalmol Strabismus . 2023;60(3):163–169.]