Mutations in AGBL5 associated with Retinitis pigmentosa.

BACKGROUND: Retinitis pigmentosa (RP) is the leading cause of heritable retinal visual impairment. Clinically, it is characterized by a variable onset of progressive night blindness and visual field constriction. RP is characterized by wide genetic heterogeneity with a broad range of potential genes involved in the genesis of this disease. Very few cases have been reported of RP due to pathogenic variants in AGBL5. MATERIALS AND METHODS: We report two patients with RP and bilallelic pathogenic variants in AGBL5. RESULTS: Genetic sequencing showed one homozygous AGBL5 missense variant in one patient and a homozygous nonsense variant in the other. These patients presented with progressive peripheral vision loss and nyctalopia. Their RP phenotypes were similar to previous reports in literature. CONCLUSION: These two cases provide further evidence regarding the relationship of pathogenic variants in AGBL5 as a cause of autosomal recessive RP.

TWO CASES OF CRB1-RELATED RETINAL DYSTROPHY ASSOCIATED WITH RETINAL MASSES.

BACKGROUND/PURPOSE: Mutations in CRB1 are associated with variable severity in expression leading to apparent phenotypic diversity. We present two retinal findings. METHODS: We present two unrelated children with CRB1-related retinal dystrophy with a solitary mass visualized on fundoscopy. Both underwent a complete ophthalmologic examination including visual acuity assessment, optical coherence tomography, intravenous fluorescein angiography, and fundus autofluorescence. RESULTS: In one child, a gliotic mass was observed on the superior temporal vessel away from disk. On optical coherence tomography, the mass appeared to be located in the superficial retina and contained discrete internal moth-eaten optically empty spaces as previously reported in the astrocytic hamartomas of tuberous sclerosis. Fundus autofluorescence showed speckled hyperautofluorescence of the lesion. In the other child, there was a calcified mass within the nerve fiber layer just temporal to the optic nerve. On optical coherence tomography, this mass appeared irregular in shape, encapsulated, and had a heterogeneous disorganized interior with hyperreflective areas. CONCLUSION: In this report, we detail two presentations of CRB1-related retinal dystrophy: retinal astrocytic hamartoma and another form of superficial retinal hamartoma. We believe this may represent a manifestation of CRB1 mutations. Recognition of this finding may prevent unnecessary evaluation for tumor cause in patients with CRB1-related retinal dystrophy.

Use of the World Health Organization primary eye care protocol to investigate the ocular health status of school children in Rwanda.

PURPOSE: To assess the ocular health status of primary and secondary schoolchildren in Rwanda and to explore the use of the World Health Organization (WHO) primary eye care screening protocol. METHODS: This was a cross-sectional population-based study across 19 schools in Rwanda. Initial screening was carried out using the WHO screening protocol, whereby visual acuity was measured using a tumbling E Snellen chart (6/60 and 6/12). Abnormal ocular features were identified using a flashlight and history against a checklist. All children with abnormal screening were referred to an on-site ophthalmic clinic for full examination. Those who could not be treated on-site were referred to an ophthalmologist at a hospital for specialist care. RESULTS: A total of 24,892 children underwent ocular health screening. Of those, 1,865 (7.5%) failed the primary screening; 658 (2.6%) were false positives (35.3% of those who failed screening), and 1,207 (4.8%) true positives. The most frequently observed ocular diagnoses were allergic conjunctivitis (3.11%) and strabismus (0.26%). Refractive error was very rare (0.18%). CONCLUSIONS: The WHO primary eye care curriculum provides existing health personnel with an approach to school-based vision screening that uses a standardized checklist and low-cost resources. In our study cohort, results indicated a low frequency of refractive error; the overwhelming majority of ocular problems could be identified on visual inspection.

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 risk of uveitis due to prostaglandin analogs in pediatric glaucoma.

PURPOSE: To examine the incidence of uveitis in children prescribed prostaglandin analogs (PGAs) for glaucoma. METHODS: In this dual-center cohort study, the medical records of consecutive patients <18 years old treated with a PGA between January 1, 2012, and December 31, 2018, were reviewed retrospectively. Patients with all forms of glaucoma, including those with a prior history of uveitis, were included. Patients who had been on a PGA prior to their first recorded visit were excluded. Patient charts were reviewed for new or recurrent uveitis during the first year of PGA therapy. RESULTS: A total of 103 children (147 eyes) were included, with a total PGA exposure of 1,352 child-months. Ninety-eight children (142 eyes) tolerated the PGA without an episode of uveitis. Five patients with a documented prior history of uveitis experienced a unilateral episode of uveitis. A review of their medical records identified prescribed or unscheduled decrease in topical steroids or immunosuppressive medication as the most likely cause of uveitis recurrence. CONCLUSIONS: This study provides further evidence that PGAs are unlikely to induce uveitis in children being treated for glaucoma and suggests that this may also be true in those with a history of uveitis. We are unable to evaluate whether PGAs make recurrence more likely or the tapering of steroids more difficult.

Resolution of traumatic mydriasis and accommodative dysfunction eight years after sweetgum ball ocular injury.

Purpose: To present a case of traumatic mydriasis (MD) and accommodative dysfunction (AD) secondary to a sweetgum ball ocular injury that resolved 8 years after the inciting trauma. Observations: A 6-year-old female presented with left eye ocular trauma after being hit with a sweetgum ball. Sweetgum balls are the small, spiky fallen fruits of the American Sweetgum tree (Liquidambar styraciflua). Due to their size and shape, children often use them as projectiles during play. On presentation, the patient had a partial thickness corneal laceration, traumatic mydriasis (TM), and accommodative dysfunction (AD). Her corneal laceration was repaired. Her TM and AD persisted. She was treated with bifocal spectacles and patching. At her 7-year follow-up visit, her TM and AD showed minimal signs of improvement. Eight years post-injury, her TM and AD had both improved significantly. Conclusion and Importance: Sweetgum balls, when used as projectiles, pose a risk of serious ocular injury. Pupillary and accommodative function in TM may improve much later than previously appreciated. Young age may contribute to parasympathetic neuroregeneration. Patching may have prevented amblyopia in this case, allowing her left eye to achieve its full visual potential once her pupillary and accommodative function returned.

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.].