Journal of Aapos最新文献

Background: Abnormalities in mitochondrial energy homeostasis can lead to various disorders, including ocular motility aberrations. Previous studies have suggested the involvement of mitochondrial aberrations in strabismus etiology. We compared the blood-derived mitochondrial DNA (mtDNA) copy number from comitant strabismus patients with that from age-matched controls, and also compared expression of mitochondrial biogenesis genes in a separate set of extraocular muscle samples from strabismic and control subjects.

Methods: Blood samples from 93 strabismic (39 esotropic, 54 exotropic) and 93 control subjects were analyzed for mtDNA copy number through quantitative polymerase chain reaction. We also examined the expression of 6 genes involved in mitochondrial biogenesis in cDNA obtained from extraocular muscles of a separate group of 26 strabismus patients and 4 healthy controls.

Results: The mtDNA content was significantly higher in strabismus patients as compared to the control group, both overall (fold change, 1.39; Z = -2.43 [P = 0.01]) and in strabismus subgroups (esotropia: fold change,1.42; Z = 2.59 [P = 0.0096]; exotropia: fold change, 1.41, Z = 3.35 [P = 0.00078]). No significant difference was observed in the expression of the examined biogenesis genes between strabismus and control groups.

Conclusions: Our results suggest an association between mtDNA copy number and strabismus; however, further studies are required to elucidate the significance of altered mtDNA in strabismus and its possible significance with regard to the etiology of strabismus.

Stickler syndrome, a rare connective tissue disorder, presents with a broad spectrum of ocular manifestations, including myopia, vitreoretinal degeneration, glaucoma, and retinal detachment. While extensive data exists on the treatment outcomes of retinal detachment repair in Stickler syndrome, the potential risks associated with acute postoperative intraocular pressure elevation remain underexplored. We report the case of a 10-year-old boy with Stickler syndrome who underwent scleral buckling surgery and subsequently experienced ocular hypertension.

Background: Intravitreal injection of anti-vascular endothelial growth factor (anti-VEGF) agents is used to treat posterior type 1 retinopathy of prematurity (ROP). Recent reports indicate that anti-VEGF therapy may be associated with white matter brain injury, according to animal studies, and neurodevelopmental impairments in children born preterm. We investigated whether type 1 ROP treated with bevacizumab is associated with structural brain injury on infant term magnetic resonance images (MRIs) in very low birth weight infants compared with those treated with laser ablation.

Methods: We retrospectively reviewed the medical records of very low birth weight infants from 2006 to 2021 with type 1 ROP who had been treated with laser or anti-VEGF therapy. Intravitreal bevacizumab injection was used for type 1 ROP in zone 1 or very posterior zone 2 or when laser treatment was not feasible. A pediatric neuroradiologist reviewed brain MRIs at term equivalent age (36-46 weeks' postmenstrual age) and classified infants for severity (no/mild vs moderate/severe) of overall brain and white matter injury using the validated Kidokoro scoring system.

Results: Fifty-two infants met inclusion criteria: 35 (67%) treated with laser and 17 (33%) with bevacizumab. Moderate-to-severe brain injury scores were not statistically different between bevacizumab and laser treatment groups in either continuous or binary adjusted analyses, for either the overall score or the white matter subscore.

Conclusions: Severity of structural injury on term brain MRI (total and white matter) did not differ between infants with type 1 ROP treated with anti-VEGF agent (bevacizumab) and those treated with laser ablation.

Purpose: To investigate whether immigrant generation is associated with caregiver-reported receipt of vision testing.

Methods: Nationally representative data from the 2018-2019 National Survey of Children's Health was used. The primary exposure was immigrant generation, with first generation defined as child and all reported parents born outside the United States; second generation, as child born in the United States but at least one parent born outside the United States; and third generation, as all parents in the household born in the United States. The main outcome was caregiver-reported vision testing during the previous 12 months. Odds ratios adjusted for sociodemographic characteristics and 95% confidence intervals were computed based on immigrant generation.

Results: The sample included 49,442 US children 3-17 years of age. The proportion of children who had vision testing in any setting was lower for first- (60.3%) than third-generation children (74.6%; aOR = 0.54; 95% CI, 0.41-0.71). This association remained after excluding children without health coverage. For Hispanic children, both first- (aOR = 0.58; 95% CI, 0.36-0.94) and second-generation children (aOR = 0.73; 95% CI, 0.55-0.96) had lower odds of a vision test in any setting compared with third-generation Hispanic children.

Conclusions: First-generation children had lower odds of vision testing than third-generation children, even when adjusting for sociodemographic characteristics, especially in Hispanic households.

Infantile acute dacryocystitis is an acute inflammation of the lacrimal sac in infants. The most common pathogens are Gram-positive cocci and Gram-negative rods. We report a case of infantile polymicrobial acute dacryocystitis. A 6-week-old girl presented emergently with eye edema, discharge, and fever. Symptoms resolved with nasolacrimal probing and systemic antibiotics. Intraoperative cultures were positive for Serratia marcescens, Haemophilus aphrophilus, and Prevotella intermedia. This case highlights the importance of considering uncommon pathogens in the etiology of infantile dacryocystitis.

We present a case of partial optic nerve head (ONH) avulsion in a 15-year-old boy evaluated with optical coherence tomography (OCT) from 2 weeks to 15 months after acute injury. Distinct findings on OCT in the acute setting correlated with the diagnosis and with additional testing, including fundus photography, Humphrey visual fields, and clinical examination. OCT findings became less pronounced in the chronic setting. Our case highlights that OCT may be valuable in the acute setting for evaluating ONH avulsion in certain patients; however, OCT findings are less distinct in the chronic setting.

Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant dysplastic dyskeratotic epithelial syndrome caused by pathogenic variants in the SREBF1 gene. This syndrome is associated with a variety of ocular conditions, including cataracts, nystagmus, keratitis, meibomian gland dysfunction (MGD), and decreased visual acuity. We report the case of a boy followed from 1 to 7 years of age who had a confirmed HMD-associated variant in the SREBF1 gene. The patient has severe MGD, with resulting keratitis and photosensitivity, and bilateral glaucoma, which has not previously been reported in association with HMD. The gene affected in HMD negatively affects gap junctions and lipid biosynthesis, which are important in the stability of the trabecular meshwork.

A 21-month-old girl presented with acute-onset esotropia with unexplained fever, conjunctivitis, and rash. Sensorimotor examination revealed the presence of a left abducens nerve palsy. After cardiogenic shock, she was found to have multiple large coronary artery aneurysms and was diagnosed with incomplete Kawasaki disease. The patient eventually had near-resolution of her abducens nerve palsy with treatment for her underlying Kawasaki disease through aspirin, infliximab, and intravenous immunoglobulin therapy. Abducens nerve palsy is a rare manifestation of Kawasaki disease that may reflect a late diagnosis and an increased risk of coronary artery involvement.

We report a rare case of late-onset vitamin K deficiency bleeding in a 3-month-old boy who presented with orbital compartment syndrome due to massive bleed in the right orbit. The coagulation profile was highly abnormal. The patient was treated with vitamin K injections, following which the coagulation profile normalized. The orbital hematoma required drainage because of severe proptosis with orbital compartment syndrome. The patient subsequently developed a corneal opacity, but there was no recurrence of bleeding.

This cross-sectional study used data from the American Academy of Ophthalmology IRIS Registry (Intelligent Research in Sight) and machine learning algorithms to identify pediatric ophthalmologists based on physician coding patterns. A random forest model achieved an area under the receiver operating characteristic curve of 0.98, sensitivity of 0.98, and specificity of 0.88 when classifying pediatric eye specialists in the test validation cohort. Algorithm-based approaches to identify pediatric ophthalmologists using procedure codes may offer new avenues to determine the scope, scale, and trajectory of pediatric eye care delivery.