Journal of Aapos最新文献

Purpose: To describe the clinical characteristics and outcomes of children with posterior segment coloboma (PSC).

Methods: The medical records of children (age <18 years) with PSC examined at Boston Children's Hospital from May 1997 to May 2023 were reviewed retrospectively. The following data were collected: demographics, ocular and systemic conditions, coloboma type according to the Ida Mann (IM) classification, and best-corrected visual acuity. Rate of retinal detachment (RD) was calculated. A t test was used to compare visual outcomes by coloboma classification. Logistic regression was used to evaluate the association of CHARGE syndrome with coloboma classification and laterality.

Results: A total of 501 eyes of 343 patients were included. Differences in the mean best-corrected visual acuity of eyes with large PSC (IM type 1-3) and moderate-to-small PSC (IM type 4-7) were found at initial and final examination (both P < 0.001). RD rate was 5% per eye (95% CI, 3.25-7.28) and 7.3% per patient (95% CI, 4.77-10.57). After adjusting for covariates, children with CHARGE syndrome were at increased odds of having IM type 1, type 2, or type 3 colobomas (OR = 2.5; 95% CI, 1.4-4.8; P = 0.003) and bilateral fundus colobomas (OR = 7.0; 95% CI, 3.4-14.5; P <0.001), regardless of IM type, compared to children with PSC and no CHARGE association.

Conclusions: Eyes with large IM colobomas had worse visual outcomes than those with smaller defects; however, both experienced visual impairment. Children with PSC had a low rate of RD. Children with CHARGE syndrome often presented with bilateral and large IM colobomatous defects.

Purpose: To examine the effect of age at time of congenital nasolacrimal duct obstruction (CNLDO) intervention on symptom resolution and reoperation rates in patients with Down syndrome (DS).

Methods: The medical records of patients with DS and CNLDO between 2012 and 2021 were reviewed retrospectively. Age at the time of first stent placement was utilized to categorize patients into age groups <3 and >3 years of age. Epiphora resolution at last office visit and restenting rate were used as outcome measures.

Results: A total of 49 patients with DS and CLNDO were identified between 2012 and 2021; of these, 17 had received surgical stent placement with appropriate follow-up. Epiphora resolution (X²₁= 0.78, P = 0.33), restenting rate (X²₁ = 2.84, P = 0.09), cumulative stent duration (P = 0.33) and number of stent placement operations (P = 0.98) were not significantly different between the age groups. There was no significant difference between stent duration <1 year or >1 year with regard to epiphora resolution (X²₁ = 0.91, P = 0.34).

Conclusions: Success of stent placement and reoperation rates among patients with DS and CNLDO were not associated with age and duration of stent intubation. Intervention at later ages may still be beneficial for symptom resolution in patients with DS.

Purpose: To investigate cases exhibiting overlapping features of persistent fetal vasculature (PFV) and combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) and to explore potential associations between these developmental ocular anomalies.

Methods: This retrospective, descriptive case series included 9 eyes of 8 patients aged 0-7 years with shared clinical features of PFV and CHRRPE. Diagnoses were established through clinical examination and intraoperative findings.

Results: All eyes exhibited elevated pigmented retinal thickening, increased vascular tortuosity, and preretinal fibrotic/gliotic changes or epiretinal membranes. Macular involvement was observed in 56% of cases; peripapillary involvement, in 44%. Four eyes showed hyaloid stalklike fibrotic remnants extending from the lesion to the posterior lens surface, suggestive of PFV component; the other 5 harbored isolated CHRRPE. One patient presented with PFV in one eye and CHRPPE in the other.

Conclusions: This study reveals significant clinical overlap between PFV and CHRRPE, with some cases displaying features typically associated with the other condition. The presence of both diagnoses in the same patient further suggests a potential association between these entities. Further research, including molecular studies, is needed to explore this potential connection and deepen our understanding of ocular development.

Purpose: To assess the validity of the GoCheck Kids photoscreening application (Gobiquity Mobile Health, Scottdale, AZ) on iPhone, which was used (2018-2022) as standard of care by Child and Family (Kind en Gezin) to detect amblyopia risk factors in children 12-30 months of age.

Methods: Between August 2021 and May 2022, 453 children 11-16 months of age underwent a confirmatory ophthalmic examination within 2 months of GoCheck Kids photoscreening at Child and Family, Flanders, Belgium. Additionally, manual review was performed by specialists of GoCheck Kids. Diagnostic metrics were assessed using the 2013 criteria of the American Association for Pediatric Ophthalmology and Strabismus as reference.

Results: Specificity was similar for automatic screening with or without manual review: 90.0% (95% CI, 87.6%-92.3%) and 90.3% (95% CI, 88.0%-92.7%), respectively. Sensitivity was estimated at 52.0% (95% CI, 35.6%-68.4%) for automatic grading and 56.0% (95% CI, 39.7%-72.3%) after manual review. Positive predictive values for automatic screening and manual review were, respectively, 23.2% (95% CI, 13.9-32.5) and 25.5% (95% CI, 15.8-35.1). Negative predictive values for automatic screening and manual review were, respectively, 97.0% (95% CI, 95.6-98.4) and 97.2 (95% CI, 95.8-98.6).

Conclusions: In our study cohort of children around 12 months of age, the GoCheck Kids application had a specificity of 90% for the targeted amblyopia risk factors, with sensitivity just over 50%.

Purpose: To assess the impact of a retinopathy of prematurity (ROP) mentoring program in four rural regions with 31 neonatal units in Colombia between 2011 and 2019.

Methods: Indicators recommended by the national program were used for assessment: screening coverage of eligible preterm newborns, proportion screened with any stage of ROP, and proportion of screened infants treated. Data were also collected on the number of units with ROP services and birth weight (BW) and gestational age (GA) of babies treated. Data on the number of preterm births, BWs of infants screened, and their ROP status (any/none) were extracted from the national health information system. Ophthalmologists in each region provided data on the number screened and treated. A linear-by-linear statistic was used to assess trends in the indicators before and during mentoring.

Results: Of the 31 neonatal units, the number providing ROP services increased from 7 (23%) to 26 (84%). The number of eligible infants born in the four regions (total 33,521) was stable over the study period, the proportion screened increased from 14% to 41%, the proportion of those screened who were found to have any ROP tended to decrease overtime, and the proportion of those screened who were treated declined from 9% to 3%, with some regional variation. By year 3 no infant with a BW ≥2000 g or GA of >36 weeks was treated.

Conclusions: In our study, mentoring rural providers proved a valuable strategy for inducing new screening programs, increasing coverage, and improving local capacities in neonatal care and ROP services.

Early-onset, severe retinal dystrophy can be isolated or syndromic, presenting as part of an underlying systemic disease. Mainzer-Saldino syndrome, a rare systemic ciliopathy characterized by skeletal and renal disease, is caused by recessive mutations in the intraflagellar transport 140 chlamydomonas homologue (IFT140) gene. We present a series of 13 cases of early-onset retinal dysfunction with confirmed IFT140 mutations from 8 unrelated Saudi families belonging to 3 well-known tribes. All carried the same homozygous missense IFT140 mutation (c.1990G>A; p.Glu664Lys) except for a single family, which included 4 affected subjects, 3 of whom were aborted fetuses, with compound heterozygous pathogenic IFT140 variants (c.1525-1G>A and c.1990G>A; p.Glu664Lys). Severe retinal dystrophy was present in all living subjects, phenotypically apparent as hyperopia, nystagmus, nyctalopia, poor vision and nonrecordable full-field electroretinography. All affected individuals had skeletal abnormalities, and neurological abnormalities were common, but there was no evidence of chronic renal failure.

Purpose: To evaluate the agreement between anterior segment optical coherence tomography (AS-OCT) measurement of preoperative distance from the limbus to the horizontal rectus muscles insertion and intraoperative measurement in patients who have previously undergone strabismus surgery and required reoperation.

Methods: Subjects from two ophthalmological centers were included. Preoperative AS-OCT was used to measure the muscle insertion from the limbus, and intraoperative measurements were obtained using calipers. Interclass correlation coefficient and Bland-Altman agreement analysis were used.

Results: A total of 53 horizontal rectus muscles from 24 patients with previous strabismus surgery were analyzed: 27 medial rectus (MR) and 26 lateral rectus (LR) muscles, including both previously operated and previously unoperated muscles. Average AS-OCT measurements of MR was 8.54 ± 2.42 mm and intraoperatively was 9.4 ± 3.09 mm. Average AS-OCT for LR was 8.32 ± 2.25 mm and intraoperatively was 9.34 ± 3.73 mm. 63% of MR muscles and 77% of LR muscles were within 1 mm between AS-OCT and intraoperative measurement. Spearman's correlation coefficient showed positive correlation between measures for both MR and LR muscles. The interclass correlation coefficient was 0.79 (95% CI, 0.56-0.90) for MR muscles and 0.70 (95% CI, 0.44-0.85) for LR muscles, with a good agreement. Agreement was better for muscles ≤10 mm from the limbus (which included both previously operated and unoperated muscles) than for muscles found >10 mm from the limbus.

Conclusions: Good agreement was observed between the measurement of limbus-insertion distance obtained by AS-OCT and by intraoperative measurement, especially when the muscle insertion was ≤10 mm from the limbus.

RS1 gene mutations are known to be a direct cause of the hereditary retinopathy known as retinoschisis. We describe a group of 3 siblings with the same RS1 gene mutation who presented with different retinopathy phenotypes. Genetic testing confirmed the RS1 genotypes. Clinical ophthalmoscopy, color fundus photography, optical coherence tomography, and fundus fluorescein angiography identified manifestations of Coats-like exudative vitreoretinopathy, retinal detachment, and retinoschisis.

Purpose: To evaluate the effects of oral fluoxetine on visual acuity and visual-evoked potential (VEP) parameters in adults with amblyopia.

Methods: In this randomized clinical trial, adults (>18 years of age) with anisometropic or strabismic amblyopia were assigned randomly to a treatment (fluoxetine) group or a placebo group. Standard treatments for amblyopia (glasses prescription and patching) were prescribed for 4 months for all patients. The first group received fluoxetine (20 mg per day) and the second group received a placebo for 3 months. Visual acuity evaluation and VEP were performed before and after treatment.

Results: A total of 55 participants were included: 29 in the fluoxetine group and 26 in the placebo group. Mean age was 27.2 ± 8.6 years (18-54). The mean logMAR visual acuity of the amblyopic eye improved by 0.20 ± 0.24 (0-0.8) in the fluoxetine group (P < 0.001) and by 0.08 ± 0.15 (0-0.7) in the placebo group (P = 0.01); mean logMAR improvement was significantly higher in the fluoxetine group than in the placebo group (P = 0.04). At the end of the study, mean visual acuity of the fluoxetine group (0.36 ± 0.21 log MAR) was better than the placebo group (0.43 ± 0.35 log MAR). Among the VEP parameters, N75 amplitude did not change significantly in either group relative to baseline, but the changes were statistically significantly different between the two groups (P = 0.05); N135 latency improved from baseline in the fluoxetine group (P = 0.03).

Conclusions: In our study cohort, fluoxetine treatment for adult amblyopia resulted in greater improvement in visual acuity than placebo.

Purpose: To investigate the long-term outcomes associated with Ahmed glaucoma device capsulectomy in pediatric patients at a single institution over a period of nearly 10 years, from 2011 to 2021.

Methods: We retrospectively reviewed the medical records of pediatric glaucoma patients with FP-7 Ahmed glaucoma device capsulectomies performed by three surgeons. Surgical success was defined as post-capsulectomy IOP of <21 mm Hg at most recent follow-up without need for additional procedures, regardless of topical medications.

Results: A total of 22 capsulectomies of 22 eyes of 18 patients aged 1-17 years were reviewed. Median post-capsulectomy follow-up was 5.8 years. Etiologies of glaucoma were primary congenital glaucoma (50%), anterior segment dysgenesis (32%), Sturge-Weber syndrome (14%), and angle recession (5%). Pre-capsulectomy IOP was 30 ± 6.2 mm Hg, with first postoperative IOP of 15 ± 8.0 mm Hg. Surgical success was achieved with 5 capsulectomies (23%), with follow-up of 1.5-5.9 years. Post-capsulectomy complications included short-term hypotony in 1 eye (5%) and macular edema in 1 eye (5%). Eleven of 22 eyes (50%) had at least one repeat placement of Ahmed glaucoma device, with median time to repeat surgery of 80 months.

Conclusions: In pediatric glaucoma patients with glaucoma drainage device encapsulation, capsulectomy likely does not prevent additional surgery in most children over the long term, but may serve as a temporizing measure before other interventions.