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Congenital anterior segment anomalies are disorders that affect the development of the eye and cause severe visual impairment. The molecular basis of congenital anterior segment anomalies is not well known. In this study, genome sequencing was performed on 27 families from diverse ethnicities with congenital anterior segment anomalies and 11 variants were identified, most of which were novel and family specific. These variants included single nucleotide variants CPAMD8 :c.4825 C > T, c.534 G > A, CRYBB1 : c.683 C > A , NHS :c.1180 C > T, GJA3 :c.176 C > T, CRYGC :c.470 G > A, COL2A1 :c.2819 G > A, c.1693 C > T, EPHA2 :c.2864 A > C, a splice donor variant in COL11A1 :c.933 + 1del, and a copy number variant in FBN1 . The observed inheritance patterns were predominantly dominant, with a few recessive cases and a single instance of X-linked inheritance. Genome sequencing identified variants in 40.74% of diverse cases, offering valuable insights for enhancing the diagnosis and management of this disorder.

We present a novel comprehensive literature review of studies of the psychosocial functioning (PF) and quality of life (QoL) of patients with childhood glaucoma and their caregivers. Our findings demonstrate variable study quality and approach, as well as inconsistent results relating to the association of glaucoma-specific factors and sociodemographic variables with measured PF and QoL. Future studies should focus on the development of culturally cognizant and standardized assessment tools, execution of multi-center longitudinal studies with global representation, evaluation of PF and QoL among siblings and childhood glaucoma providers, and implementation of interventions to improve patient and caregiver PF and QoL.

BackgroundGenetic syndromes often have ocular involvement. Ophthalmologists may have difficulty identifying dysmorphic features in genetic syndrome evaluations. We investigated the sensitivity and specificity of Face2Gene (F2G), a digital image analysis software trained on integrating dysmorphic features, by analysing patient photos from genetics textbooks.MethodsWe analysed all clear facial photos contained within the textbooks Smith’s Recognizable Patterns of Human Malformation and Genetic Diseases of the Eye using F2G under standard lighting conditions. Variables captured include colour versus grey scale photo, the gender of the patient (if known), age of the patient (if known), disease categories, diagnosis as listed in the textbook, and whether the disease has ophthalmic involvement (as described in the textbook entries). Any photos rejected by F2G were excluded. We analysed the data for accuracy, sensitivity, and specificity based on disease categories as outlined in Smith’s Recognizable Patterns of Malformation.ResultsWe analysed 353 photos found within two textbooks. The exact book diagnosis was identified by F2G in 150 (42.5%) entries, and was included in the top three differential diagnoses in 191 (54.1%) entries. F2G is highly sensitive for craniosynostosis syndromes (point estimate [PE] 80.0%, 95% confidence interval [CI] 56.3–94.3%, P = 0.0118) and syndromes with facial defects as a major feature (PE 77.8%, 95% CI 52.4–93.6%, P = 0.0309). F2G was highly specific (PE > 83percentage with P < 0.001) for all disease categories.ConclusionsF2G is a useful tool for paediatric ophthalmologists to help build a differential diagnosis when evaluating children with dysmorphic facial features.

To evaluate the Childhood Glaucoma Research Network (CGRN) classification system and describe the prevalence of each subtype according to this classification. Retrospectively, the medical records of 205 consecutive childhood glaucoma and glaucoma suspect patients at an urban tertiary care center were reviewed. The initial diagnosis and new diagnosis according to CGRN classification were recorded. All patients fit one of the seven categories of the new classification. Seventy-one percent of diagnoses were changed upon reclassification. Twenty-three percent of patients had primary glaucoma (juvenile open-angle glaucoma and primary congenital glaucoma [PCG]); 36% had secondary glaucoma (glaucoma associated with nonacquired ocular anomalies; glaucoma associated with nonacquired systemic disease or syndrome; glaucoma associated with acquired condition; and glaucoma following cataract surgery); and 39% were glaucoma suspect. Of the patients diagnosed with glaucoma, PCG was the most common diagnosis, seen in 32% of patients. The CGRN classification provides a useful method of classifying childhood glaucoma.

Visual impairment (VI) negatively affects a child’s quality of life. The prevalence of VI in the Caribbean is nearly three times higher than in the United States, but the causes remain uncertain. This study leverages Barbados’ unique eye care system to survey the eye diseases and VI prevalence in Barbadian children. Medical records of all patients aged <19 years who received ophthalmic care in Barbados’ two public eye care centers between January and December 2019 were reviewed, capturing the entirety of public pediatric eye care within the study period. Age at the first visit to the clinic and at the final visit in 2019, sex, best-corrected visual acuity (BCVA), past medical history, and clinical diagnoses were extracted and analyzed. VI was defined as a BCVA of 6/12 or worse in the better-seeing eye. There were 3278 patient records with a mean age at the first visit of 7.8 ± 3.9 years. There were 80 (2.4%) children with VI, 62.5% of which were attributed to amblyopia. A total of 94% of VI was preventable or treatable. The most common diagnoses were refractive error (87.5%), strabismus (27.5%), and allergic eye disease (20.0%). Amblyopia is the major cause of pediatric VI in Barbados and is largely avoidable.

The circumpapillary retinal nerve fiber layer (RNFL) thickness was assessed by spectral domain optical coherent tomography (SD-OCT) before and after surgical reduction of intraocular pressure in an eye with primary infantile glaucoma. In this case, a postoperative reduction of cupping and a subsequent increase in neuroretinal rim area is associated with a paradoxical thinning of the RNFL. This is the first-known characterization of cupping reversal using SD-OCT.

Glaucoma drainage device tube placement and extension in pediatric patients may be complicated by abnormal anterior segment anatomy and corneal opacities. The authors describe two techniques for placement and extension of non-valved glaucoma drainage device tubes using polypropylene suture as a guidewire and stabilizer, respectively. [J Pediatr Ophthalmol Strabismus. 2022;59(5):e62–e65.]

Ultrasound biomicroscopy offers high-resolution images of anterior segment anatomy, essential for determining surgical intervention in special circumstances, yet is sometimes unavailable. The authors describe a novel technique to obtain gross anterior segment visualization using a commonly available instrument, B-scan ultrasonography, and compare it to ultrasound biomicroscopy imaging from two pediatric cases. [J Pediatr Ophthalmol Strabismus. 2022;59(5):e58–e61.]

Background Digital optic disc photographs are integral to remote telehealth ophthalmology, yet no quality control standards exist for the brightness setting of the images. This study evaluated the relationship between brightness setting and cup/disc ratio (c/d) grading among glaucoma specialists. Methods Optic disc photographs obtained during routine examinations under anesthesia were collected to construct an image library. For each optic disc, photographs were obtained at 3 light intensity settings: dark, medium, and bright. From the image library, photograph triads (dark, medium and bright) of 50 eyes (50 patients) were used to construct the study set. Nine glaucoma specialists evaluated the c/d of the study set photographs in randomized order. The relationships between the brightness levels and the c/d grading as well as graders’ years in practice and variability were evaluated. Results The c/d were graded as significantly larger in bright photographs when compared to photographs taken at the medium light intensity (0.53 vs 0.48, P  < 0.001) as well as those taken at the dark setting (0.47, P  < 0.001). In addition, no relationship was found between ophthalmologists’ years in practice and the variability of their c/d grading ( P  = 0.76). Conclusion Image brightness affects c/d grading of nonstereoscopic disc photographs. The brighter intensity is associated with larger c/d grading. Photograph brightness may be an important factor to consider when evaluating digital disc photographs.

Purpose. To characterize the clinical features in young patients with angle closure and to determine the characteristics associated with acquired anterior segment abnormality following retinopathy of prematurity (ROP) treatment. Methods. We performed two retrospective case-control series. In the first series, we identified consecutive young angle closure patients without prior surgeries, with and without a history of ROP treatment; in the second series we identified consecutive patients who underwent ROP treatment, without and without anterior segment changes. Results. In the first series, 25 eyes of 14 consecutive angle closure patients were included: 19 eyes (11 patients, 78.6%) had a history of treated ROP, while 6 eyes (3 patients) belonged to full-term patients. The treated ROP eyes had significantly shallower anterior chambers (1.77 ± 0.17 mm vs 2.72 ± 0.18 mm, P<0.0001) and thicker lenses (5.20 ± 0.54 mm vs 3.98 ± 0.20 mm, P=0.0002) compared to the full-term controls. In the second series, 79 eyes of 40 patients were included, with median gestational age of 24.6 weeks. Acquired iridocorneal adhesion was noted in the eight eyes (10.1%) at a mean age of 4.7 years and was associated with prior zone 1 and plus disease (P=0.0013), a history of initial intravitreal bevacizumab treatment (IVB, P=0.0477) and a history of requiring additional IVB after initial treatment (P=0.0337). Conclusions. Many young angle closure patients may have a history of treated ROP and may present with the triad of increased lens thickness, microcornea, and angle closure.