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.

Optical Coherence Tomography Normative Peripapillary Retinal Nerve Fiber Layer and Macular Data in Children 0-5 Years of Age.

Purpose: To determine reference values for the peripapillary retinal nerve fiber layer (pRNFL) and macula in children 0-5 years of age.

Design: Prospective cross-sectional study.

Methods: This study was set in a single large academic pediatric ophthalmology practice.

Handheld Optical Coherence Tomography Normative Inner Retinal Layer Measurements for Children <5 Years of Age.

Purpose: Measurements of the ganglion cell complex (GCC), comprising the retinal nerve fiber (RNFL), ganglion cell, and inner plexiform layers, can be correlated with vision loss caused by optic nerve disease. Handheld optical coherence tomography (HH-OCT) can be used with sedation in children who are not amenable to traditional imaging. We report GCC and RNFL measurements in normal children using HH-OCT.

Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma.

Purpose: To report on the use of endoscopic cyclophotocoagulation (ECP) to treat congenital glaucoma in a triple X female with microphthalmia, dermal aplasia, and sclerocornea (MIDAS) syndrome.

Observations: The patient demonstrated linear streaks on the face and neck consistent with dermal aplasia. The corneas were scleralized with ectatic areas of corneal thinning, and the eyes were microphthalmic.

360-Degree Trabeculotomy for Medically Refractory Glaucoma Following Cataract Surgery and Juvenile Open-Angle Glaucoma.

Purpose: Although angle surgeries show good success in primary congenital glaucoma, reported success in glaucoma following cataract surgery (GFCS) and juvenile open-angle glaucoma (JOAG) is variable and with relatively short follow-up. We evaluated longer-term outcomes of 360-degree trabeculotomy for medically refractory GFCS and JOAG.

Design: Retrospective case series.

Update on congenital cataract surgery management.

Purpose Of Review: The basic procedure of pediatric cataract surgery has not dramatically changed over the past few years. Recent multicenter study results along with technological innovations, however, have increased our understanding and armamentarium of techniques and devices used to improve outcomes.

Recent Findings: We review surgical techniques that have been recently applied to the management of pediatric cataracts and describe newer intraocular lenses that have become available for use in the pediatric population.

Comparison of 360-degree versus traditional trabeculotomy in pediatric glaucoma.

Purpose: To compare intraocular pressure (IOP) control of pediatric glaucoma patients undergoing traditional trabeculotomy (<360 degrees or partial) with those receiving 360-degree circumferential trabeculotomy.

Methods: The medical records of pediatric glaucoma patients receiving trabeculotomy at a single institution from 2000 to 2012 were retrospectively reviewed. Patients were divided into two groups: a traditional trabeculotomy group and 360-degree trabeculotomy group.

Thermal macular injury from a 154 mW green laser pointer.

We report a case of accidental thermal injury due to improper use of a laser pointer obtained outside of the United States. A 13-year-old received a laser pointer as a gift and looked at a reflection of the beam. The patient underwent full ophthalmologic examination with fundus photography, spectral domain optical coherence tomography, and fluorescein angiography.