Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with early-onset idiopathic bilateral cataracts: final analysis.

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive bile acid synthesis disorder caused by pathologic variants in CYP27A1, a gene involved in bile acid synthesis. Impaired function in this gene leads to accumulation of plasma cholestanol (PC) in various tissues, often in early childhood, resulting in such clinical signs as infantile diarrhea, early-onset bilateral cataracts, and neurological deterioration. The current study aimed to identify cases of CTX in a population of patients with a greater CTX prevalence than the general population, to facilitate early diagnosis. Patients diagnosed with early-onset, apparently idiopathic, bilateral cataracts between the ages of 2 and 21 years were enrolled. Genetic testing of patients with elevated PC and urinary bile alcohol (UBA) levels was used to confirm CTX diagnosis and determine CTX prevalence. Of 426 patients who completed the study, 26 met genetic testing criteria (PC ≥ 0.4 mg/dL and positive UBA test), and 4 were confirmed to have CTX. Prevalence was found to be 0.9% in enrolled patients, and 15.4% in patients who met the criteria for genetic testing.

Congenital primary aphakia.

PURPOSE: To describe the natural history, management, and visual outcome in children with congenital primary aphakia (CPA). METHODS: This is a multicenter retrospective consecutive case series from five academic centers in England and North America. RESULTS: A total of 27 eyes of 14 patients were included (male:female, 1.7:1). Thirteen patients had bilateral CPA, and 1 patient had unilateral CPA. Mean age at diagnosis was 18 months (median, 21; range, 0.5-144). Of 11 patients who underwent genetic testing, 9 had FOXE3 pathogenic variants. In all patients, visual acuity at presentation was not better than fixing and following light. Typical findings included silvery appearance of the cornea with vascularization (96%), glaucoma (81%), iridocorneal adhesions (74%), optic nerve coloboma (55%), abnormal vitreous (33%), retinal detachment (30%), and aniridia with hypoplasia of ciliary body (19%). Surgical interventions in select patients included penetrating keratoplasty (PKP), glaucoma drainage device implantation, and cyclophotocoagulation (CPC). CONCLUSIONS: Eyes with corneal ectasia and a silvery appearance of the cornea with vascularization should alert the physician to the possibility of CPA. Glaucoma causes globe enlargement and may increase the risk of corneal perforation, but glaucoma is often refractory to medical treatment, and the threshold for surgical treatment should be low. PKP outcomes are very poor.

Sleep Challenges and Interventions in Children With Visual Impairment.

PURPOSE: To examine sleep patterns in a large and heterogeneous group of children with visual impairment. METHODS: A cross-sectional survey of parents of children with visual impairment was offered via the National Federation of the Blind and the National Organization for Albinism and Hypopigmentation. RESULTS: Complete survey results were available for 72 participants, aged 1 to 16 years. Parents of 52 (72%) children reported that their child had cycles of good sleep and bad sleep, and 50 (69%) reported that their child's sleep patterns caused significant stress for them or their family. Scores on the Childhood Sleep Habits Questionnaire (CSHQ) increased (> 41) in 64 (89%) children, indicating a likely clinically significant sleep problem. When compared to normative data from children aged 4 to 10 years, children in the current sample scored higher (more sleep problems) on all eight subscales on the CSHQ. The presence of comorbid developmental delay was most strongly associated with sleep problems. Supplemental melatonin and improving daytime and nighttime schedules or routines were reported as the most helpful for sleep. Many families reported a need for further information regarding melatonin use as a supplement. CONCLUSIONS: A high proportion of children with visual impairment experience clinically meaningful sleep problems, regardless of degree of light perception or visual acuity. There is a strong need for increased awareness and screening for sleep problems in this population. Potential treatment modalities, including supplemental melatonin, should be discussed with families. [J Pediatr Ophthalmol & Strabismus. 2022;59(2):77-86.].

Evaluation of Genotypic Antiviral Resistance Testing as an Alternative to Phenotypic Testing in a Patient with DOCK8 Deficiency and Severe HSV-1 Disease.

Antiviral resistance frequently complicates the treatment of herpes simplex virus (HSV) infections in immunocompromised patients. Here we present the case of an adolescent boy with dedicator of cytokinesis 8 (DOCK8) deficiency, who experienced recurrent infections with resistant HSV-1. We used both phenotypic and genotypic methodologies to characterize the resistance profile of HSV-1 in the patient and conclude that genotypic testing outperformed phenotypic testing. We also present the first analysis of intrahost HSV-1 evolution in an immunocompromised patient. While HSV-1 can remain static in an immunocompetent individual for decades, the virus from this patient rapidly acquired genetic changes throughout its genome. Finally, we document a likely case of transmitted resistance in HSV-1 between the patient and his brother, who also has DOCK8 deficiency. This event demonstrates that resistant HSV-1 is transmissible among immunocompromised persons.

Visual Acuity and Ophthalmic Outcomes in the Year After Cataract Surgery Among Children Younger Than 13 Years.

Importance: Cataract is an important cause of visual impairment in children. Outcomes reported from a large clinical disease-specific registry can provide real-world estimates of visual outcomes and rates of adverse events in clinical practice. Objective: To describe visual acuity and refractive error outcomes, as well as rates of amblyopia, glaucoma, and additional eye surgery, during the first year after lensectomy in children. Design, Setting, and Participants: A prospective observational study was conducted from June 18, 2012, to July 8, 2015, at 61 pediatric eye care practices among 880 children younger than 13 years at the time of lensectomy in at least 1 eye with follow-up within 15 months after surgery. Statistical analysis was performed from December 12, 2016, to December 14, 2018. Exposures: Lensectomy with or without implantation of an intraocular lens. Main Outcomes and Measures: Visual acuity as well as rates of amblyopia, glaucoma, suspected glaucoma, and other intraocular surgery. Results: Among the 880 children (432 girls and 448 boys; mean [SD] age at annual follow-up, 4.9 [3.8] years) in the study, lens surgery was bilateral in 362 (41.1%; 95% CI, 37.9%-44.4%) children and unilateral in 518 (58.9%; 95% CI, 55.6%-62.1%). An intraocular lens was implanted in 654 of 1132 eyes (60.2%; 95% CI, 57.0%-63.4% [proportions reported for eye-level outcomes account for the potential correlation induced by enrolling both eyes of some individuals; for participants who received bilateral surgery, these numbers will differ from the quotient of the number of cases divided by the total sample size]). Amblyopia was identified in 449 children (51.0%; 95% CI, 47.7%-54.3%). In children age 3 years or older, mean visual acuity was 0.30 logMAR (about 20/40) in 153 bilateral pseudophakic eyes, 0.49 logMAR (about 20/63) in 141 unilateral pseudophakic eyes, 0.47 logMAR (about 20/63) in 21 bilateral aphakic eyes, and 0.61 logMAR (about 20/80) in 17 unilateral aphakic eyes. Mean visual acuity improved with older age at surgery in eyes with bilateral pseudophakia by 0.2 logMAR line (99% CI, 0.02-0.4; P = .005) and by 0.3 logMAR line (99% CI, 0.04-0.60; P = .004) in eyes with unilateral pseudophakia. A new diagnosis of glaucoma or suspected glaucoma was made in 67 of 1064 eyes that did not have glaucoma prior to lensectomy (5.9%; 95% CI, 4.6%-7.7%); 36 of 273 eyes with bilateral aphakia (13.2%; 95% CI, 9.0%-19.0%), 5 of 308 eyes with bilateral pseudophakia (1.5%; 95% CI, 0.6%-4.2%), 14 of 178 eyes with unilateral aphakia (7.9%; 95% CI, 4.7%-12.8%), and 12 of 305 eyes with unilateral pseudophakia (3.9%; 95% CI, 2.2%-6.8%). Additional intraocular surgery, most commonly vitrectomy or membranectomy to clear the visual axis, was performed in 189 of 1132 eyes (17.0%; 95% CI, 14.8%-19.6%). Conclusions and Relevance: Amblyopia was frequently observed during the first year after lensectomy in this cohort of children younger than 13 years. For children age 2 years or older at surgery visual acuity was typically less than normal for age and was worse with unilateral cataract. Management of visual axis obscuration was the most common complication requiring surgical intervention during the first year after surgery.

New-Onset Chronic Recurrent Multifocal Osteomyelitis in a Child With Chronic Uveitis.

Chronic recurrent multifocal osteomyelitis (CRMO) has rarely been associated with uveitis. The authors report a case of new CRMO in a 15-year-old boy with HLA-B27 positive chronic anterior uveitis controlled with methotrexate. This case highlights a potential association between chronic uveitis and CRMO. [J Pediatr Ophthalmol Strabismus. 2019;56:e38-e40.].

Topical timolol for an iris hemangioma.

Extraocular infantile hemangiomas have been shown to respond to oral and topical beta blockers, while there is little literature regarding the management of intraocular infantile hemangiomas with beta blockers. This case report discusses the management of an iris hemangioma with topical timolol, a treatment previously unreported in the literature.

Pediatric refractive surgery.

PURPOSE OF REVIEW: Refractive surgery procedures have been performed on children since the early 1980s. This article will review this history as well as current thoughts on treating children with large refractive errors. RECENT FINDINGS: Pediatric refractive surgery has developed slowly as very few children fit the criteria for treatment. For this reason, practice patterns are varied and publications are rare. Publications in recent years have focused on intraocular procedures over laser refractive surgery. SUMMARY: Pediatric refractive surgery is an evolving field as surgeons try to find the best long-term treatments for these young patients.

Transplant related ocular surface disorders: Advanced techniques for ocular surface rehabilitation after ocular complications secondary to hematopoietic stem cell transplantation.

HSCT has been linked to the development of an assortment of ocular surface complications with the potential to lead to permanent visual impairment if left untreated or if not treated early in the course of disease. Strategies for therapy include maintenance of lubrication and tear preservation, prevention of evaporation, decreasing inflammation, and providing epithelial support. The ultimate aim of treatment is to prevent permanent ocular sequelae through prompt ophthalmology consultation and the use of advanced techniques for ocular surface rehabilitation. We describe several rehabilitation options of ocular surface complications occurring secondarily during the post-HSCT course.

Pediatric refractive surgery.

This article reviews current thoughts regarding pediatric refractive surgery. This encompasses current trends in adult refractive surgery, differences between adult and pediatric refractive surgery, and future possibilities for refractive technology for the pediatric population.

Dilute brimonidine to improve patient comfort and subconjunctival hemorrhage after LASIK.

PURPOSE: To investigate whether dilute brimonidine (0.025%) reduces patient discomfort, subconjunctival hemorrhage, and injection after LASIK without a significant increase in the rate of flap complications or surgical enhancements. METHODS: This randomized, double-blind, prospective study enrolled 180 patients (360 eyes) in a contralateral eye comparison of topical dilute brimonidine, naphazoline/pheniramine, or Systane Ultra (Alcon Laboratories, Inc., Fort Worth, TX) administered shortly before LASIK for any indication. Patients were evaluated for subconjunctival hemorrhage, injection, and flap dislocation 1 hour and 1 day postoperatively. Patient questionnaires measuring patient comfort and ocular symptoms were administered at these same follow-up visits. Patients were examined for 3 months to determine similar outcomes for standard indices of safety, predictability, efficacy, and enhancement rates. RESULTS: Scores of patient discomfort, subconjunctival hemorrhage, and injection were significantly lower in eyes treated with dilute brimonidine at the 1 hour and 1 day postoperative examinations. Refloats for mild-flap edge wrinkling were required in 3 brimonidine eyes (2.5%), 1 naphazoline/pheniramine eye (0.8%), and no control eyes, but this difference did not reach statistical significance (P = .18). There was no significant difference between eyes at 3 months in terms of visual acuity, refractive error, corrected distance visual acuity, or rate of enhancement. CONCLUSIONS: Use of dilute brimonidine before LASIK reduces subconjunctival hemorrhage and injection and improves patient comfort after surgery. Flap edge wrinkling requiring refloat may still be a complication with dilute brimonidine.

Evaluating the speed of visual recovery following thin-flap LASIK with a femtosecond laser.

PURPOSE: To investigate the speed of visual recovery following myopic thin-flap LASIK with a femtosecond laser. METHODS: This pilot study prospectively evaluated 20 eyes from 10 patients who underwent bilateral simultaneous LASIK with the Femto LDV Crystal Line femtosecond laser (Ziemer Ophthalmic Systems AG) used to create a circular flap of 9.0-mm diameter and 110-µm thickness followed by photoablation with the Allegretto Wave Eye-Q (WaveLight AG) excimer laser. Binocular and monocular uncorrected distance visual acuity (UDVA), monocular contrast sensitivity, and a patient questionnaire were evaluated during the first hours, 1 day, and 1 month postoperatively. RESULTS: For monocular UDVA, 100% of eyes were 20/40 at 1 hour and 100% were 20/25 at 4 hours. For binocular UDVA, all patients achieved 20/32 by 30 minutes and 20/20 by 4 hours. Low frequency contrast sensitivity returned to preoperative baseline by 1 hour (P=.73), and showed a statistically significant improvement over baseline by 4 hours (P=.01). High frequency monocular contrast sensitivity returned to preoperative baseline by 4 hours (P=.48), and showed a statistically significant improvement by 1 month (P=.04). At 2 and 4 hours, 50% and 100% of patients, respectively, indicated that they would feel comfortable driving. CONCLUSIONS: Visual recovery after thin-flap femtosecond LASIK is rapid, occurring within the first few hours after surgery.

Hyperacute infectious keratitis with Plesiomonas shigelloides following traumatic lamellar corneal laceration.

Plesiomonas shigelloides rarely causes extraintestinal human disease, and infection of ocular tissues is even rarer, never having been reported as the sole pathogen of posttraumatic ocular infection. We report the first case of infectious keratitis due solely to P. shigelloides following traumatic corneal laceration and a literature review with regard to P. shigelloides ocular disease.

Current thoughts in pediatric refractive surgery.

The goal of this article is to review current literature regarding the emerging field of pediatric refractive surgery. This encompasses current thought in adult refractive surgery, published literature in pediatric refractive surgery, and future possibilities for refractive technology in the pediatric population. This study includes a comprehensive review of literature in the general refractive surgery, cornea, and pediatric literature.