Identification of pathogenic genetic variants in patients with acquired early-onset bilateral cataracts using next-generation sequencing.

Background: Acquired early-onset bilateral cataracts can result from systemic etiologies or genetic disorders.

Methods: In this observational study, we analyzed individuals 18 months to 35 years of age with acquired bilateral cataracts via a next-generation sequencing panel of 66 genes to identify disease-causing genetic variants.

Results: Of 347 patients enrolled, 313 (90.

Timing of Diagnosis and Treatment of Glaucoma following Infantile Cataract Surgery.

Purpose: To report timing of diagnosis and treatment of glaucoma following cataract surgery (GFCS) in a large cohort of infants undergoing cataract surgery at a tertiary care center.

Study Design: Cross-sectional study.

Participants: All consecutive infants that underwent cataract surgery over a 30-year period from January 1991 to December 2021 were included if they had at least 1 year follow-up.

Durable recovery from amblyopia with donepezil.

An elevated threshold for neuroplasticity limits visual gains with treatment of residual amblyopia in older children and adults. Acetylcholinesterase inhibitors (AChEI) can enable visual neuroplasticity and promote recovery from amblyopia in adult mice. Motivated by these promising findings, we sought to determine whether donepezil, a commercially available AChEI, can enable recovery in older children and adults with residual amblyopia.

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.

Comparison of baseline biometry measures in eyes with pediatric cataract to age-matched controls.

Purpose: To compare baseline biometry measurements in eyes with pediatric cataract versus age-matched controls METHODS: This is a cross-sectional study conducted at a tertiary care hospital that included two arms-prospective arm to collect data from normal eyes and retrospective arm for eyes with pediatric cataract. In the prospective arm, biometry measurements were obtained in healthy children aged 0 to 10 years. Children under the age of four had measurements under anesthesia for an unrelated procedure, while older children had in-office measurements using optical biometry.

Systemic and ocular associations in pediatric patients undergoing cataract surgery.

Purpose: Evaluation for systemic diagnosis is an important part of pediatric cataract management. While there are reports on associated systemic and ocular associations in children with infantile cataracts, reports specifying associations in large cohorts of children undergoing cataract surgery are lacking.

Methods: Retrospective chart review of consecutive patients undergoing cataract surgery at a pediatric tertiary referral center during 30-year period was performed.

Paediatric anterior uveitis management in the USA: a single-centre, 10-year retrospective chart review exploring the efficacy and safety of systemic immunomodulatory therapy.

Objective: To evaluate the efficacy of immunomodulatory therapy (IMT) in paediatric anterior uveitis.

Methods: Chart review of all patients ≤ 18 years treated for anterior uveitis using a stepladder approach during a 10-year period. The type and duration of IMT were noted.

Deviations From Age-Adjusted Normative Biometry Measures in Children Undergoing Cataract Surgery: Implications for Postoperative Target Refraction and IOL Power Selection.

Purpose: To evaluate whether pediatric eyes that deviate from age-adjusted normative biometry parameters predict variation in myopic shift after cataract surgery.

Methods: This is a single institution longitudinal cohort study combining prospectively collected biometry data from normal eyes of children <10 years old with biometry data from eyes undergoing cataract surgery. Refractive data from patients with a minimum of 5 visits over ≥5 years of follow-up were used to calculate myopic shift and rate of refractive growth.

Long-term outcomes of secondary intraocular lens implantation in children.

Purpose: This study aims to report long-term outcomes of secondary intraocular lens (IOL) implantation after early cataract surgery in children.

Methods: This is a retrospective case series that included children undergoing secondary IOL implantation. The patients had either in-the-bag (ITB) or sulcus implantation; alternative methods of IOL fixation were excluded.

Pseudo-Duane retraction syndrome after orbital myositis.

Orbital myositis is a rare, commonly idiopathic, inflammatory condition that affects one or more extraocular muscles. We present a case of unilateral orbital myositis affecting the lateral rectus muscle presenting with gaze-evoked amaurosis, pain, and diplopia, with restrictive limitation of adduction. With improvement in adduction after initiating treatment, we noted narrowing of the palpebral fissure on attempted adduction, mimicking Duane retraction syndrome (DRS).

Pediatric genetic disorders of lens.

Pediatric genetic disorders of lens include various cataractous and non-cataractous anomalies. The purpose of this review is to help determine the genetic cause based on the lens appearance, ocular and systemic associations. Children with bilateral cataracts require a comprehensive history, ophthalmic and systemic examination to guide further genetic evaluation.

Uncorrected visual acuity in children with monofocal pseudophakia.

Purpose: To report uncorrected distance and near visual acuity in pediatric eyes treated with primary monofocal intraocular lens (IOL) implantation.

Setting: Boston Children's Hospital, Boston, Massachusetts, USA.

Design: Retrospective chart review.

Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD).

Purpose: To describe phenotypic characteristics of two pedigrees manifesting early onset crystalline cataract with mutations in the γD-crystallin gene (CRYGD).

Methods: A detailed medical history was obtained from two Caucasian pedigrees manifesting autosomal dominant congenital cataracts. Genomic DNA was extracted from saliva (DNA Genotek).

Secondary intraocular lens implantation after pediatric aphakia.

Purpose: To describe our technique for secondary intraocular lens (IOL) implantation in aphakic children and report patient outcomes.

Patients And Methods: In our technique for in-the-bag IOL implantion, we used a microvitreoretinal (MVR) blade to separate the capsular leaflets for aspiration of reproliferated lens material within Soemmering's ring. When sufficient capsular opening was not possible or capsular support deemed inadequate, an IOL was implanted in the sulcus.

Technological advances in pediatric cataract surgery.

Purpose: Managing pediatric cataracts is often challenging. It is technically difficult to perform surgery in these small complaint eyes and there is higher prevalence of postoperative complications. The outcomes of surgery depend on technique and technology.

Comparison of intraocular lens power calculation formulae in pediatric eyes.

Purpose: To evaluate accuracy of intraocular lens (IOL) power calculation formulae (SRK II, SRK/T, Holladay 1, Hoffer Q) in pediatric eyes.

Design: Retrospective case series.

Participants: One hundred thirty-five eyes of 96 children with congenital, developmental, or acquired cataracts who underwent uncomplicated cataract surgery and IOL implantation by a single surgeon over a 10-year period.

Short tag noose technique for optional and late suture adjustment in strabismus surgery.

Objective: To present and evaluate a new technique that allows the second-stage suture adjustment in strabismus surgery to be skipped or delayed if the immediate postoperative alignment is satisfactory.

Methods: The "short tag noose" technique replaces long sutures with short tags that can be left under the conjunctiva after adjustment. Retrospectively, the medical records of all patients treated by a single surgeon with this approach between January 1, 2005, and December 31, 2008, were evaluated for success rate (< or =10 prism diopters [PD] horizontal and < or =6 PD vertical), reoperation rate, and complications.

Optic nerve sheath fenestration for an isolated optic nerve glioma.

The treatment modalities for neurofibromatosis type 1-associated optic gliomas include chemotherapy, radiation therapy, and surgical excision. The current recommendation is to consider treatment for an optic nerve glioma only if there is clear evidence of either ophthalmologic or radiographic progression with significant visual dysfunction. We report a case of a child with neurofibromatosis type 1 and an isolated optic nerve glioma with documented progression and visual loss in which clinical signs improved and visual deterioration stabilized after optic nerve sheath fenestration.