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. Patients diagnosed with early-onset, apparently idiopathic, bilateral cataracts between the ages of 2 and 21 years were enrolled. Genetic testing of patients with elevated PC and urinary bile alcohol (UBA) levels was used to confirm CTX diagnosis and determine CTX prevalence. Of 426 patients who completed the study, 26 met genetic testing criteria (PC ≥ 0.4 mg/dL and positive UBA test), and 4 were confirmed to have CTX. Prevalence was found to be 0.9% in enrolled patients, and 15.4% in patients who met the criteria for genetic testing.

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. Healthy, full-term children 0 to <6 years of age presenting for surgery under general anesthesia were prospectively recruited for participation. Excluded were children with systemic neurologic disease, optic nerve or retinal disease (even if unilateral) or any bilateral ocular disease process, and eyes with amblyopia, ocular disease, or spherical equivalent refractive error outside of -3.00 to +8.00 diopters. Following general anesthesia, OCT scans of the optic nerve and retina were acquired using an HRA+OCT Spectralis with Flex module (Heidelberg Engineering). Automated segmentation of the pRNFL and retinal layers was followed by manual correction. RESULTS: Data were obtained from normal eyes of 57 participants (mean age 2.28 ± 1.50 years). Mean global pRNFL thickness was 107.6 ± 10.3 µm. Mean global pRNFL thickness was not dependent on age but showed a negative relationship with axial length (P = .01). The mean total macular volume was 8.56 ± 0.259 mm3 (n = 38). No relationship was found between total macular volume and age. Ganglion cell layer, ganglion cell complex, and inner nuclear layer volumes showed an inverse relationship with age while the photoreceptor layers showed a logarithmic increase with age. CONCLUSIONS: Global pRNFL thickness measurements remain stable over time. Macular volume and thickness values of segmented retinal layers reflect the development of the macula with age.

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. DESIGN: Prospective observational study of normal children ≤5 years of age. METHODS: Healthy, full-term children ≤5 years of age undergoing sedation or anesthesia were enrolled. Exclusion criteria included prematurity and pre-existing neurologic, genetic, metabolic, or intraocular pathology. Demographic data, axial length (Master-Vu Sonomed Escalon, Lake Success, New York, USA), and HH-OCT macular and optic nerve volume scans at 0° (Bioptigen, Inc., Morrisville, North Carolina, USA) were obtained. Retinal segmentation was completed with DOCTRAP software, creating average volume thickness maps. RESULTS: Sixty-seven children (67 eyes, 31 males ranging in age from 3.4-70.9 months) were enrolled. Average axial length was 21.2 ± 1.0 mm with mean spherical equivalent +1.49 ± 1.34 diopters (range -2.25 to 4.25). Average GCC volume for the total retina was 0.28 ± 0.04 mm3. Forty-seven of these eyes had RNFL analysis. Average RNFL thickness of the papillomacular bundle was 38.2 ± 9.5 µm. There was no correlation between GCC volume, RNFL thickness, patient age, or axial length. CONCLUSION: Average GCC volume and RNFL thickness was stable from 6 months to 5 years of age. This study provides normative data for GCC and RNFL obtained by HH-OCT in healthy eyes of young children, to serve in evaluating those with optic neuropathies.

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. Ultrasound biomicroscopy demonstrated congenital aphakia and iris stumps. The patient had elevated intraocular pressure (IOP) that responded to topical glaucoma therapy in the right but not the left eye. Intraoperative endoscopy of the posterior segment revealed multiple hypopigmented chorioretinal lacunae surrounding a pale, cupped optic nerve. ECP of the ciliary processes in the left eye led to marked improvement in IOP. CONCLUSIONS AND IMPORTANCE: Patients with MIDAS syndrome can develop congenital glaucoma secondary to angle dysgenesis. This is the first case report to demonstrate the safe and effective use of ECP to treat elevated IOP in a patient with MIDAS.

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. METHODS: First operated eyes of consecutive patients with medically refractory GFCS and JOAG in a single-surgeon pediatric glaucoma practice who underwent illuminated microcatheter-assisted 360-degree trabeculotomy from February 2008 to June 2015 were reviewed. Baseline characteristics, time to failure or last visit, surgical details, final intraocular pressure (IOP), and complications were recorded. Success required IOP ≤22 mm Hg and 20% reduction without additional glaucoma surgery or devastating complication. RESULTS: Thirty-five eyes (35 patients) were included: 25 GFCS and 10 JOAG (mean age at surgery 5.6 vs 16.7 years, respectively, P < .001). Success for GFCS and JOAG was 18 of 25 (72%) vs 6 of 10 (60%) eyes at mean follow-up of 31.9 ± 26.1 vs 24.5 ± 19.7 months, respectively. IOP was significantly reduced from baseline for both GFCS and JOAG (31.5 ± 7.5 mm Hg vs 19.2 ± 7.7 mm Hg, P < .001; and 29.5 ± 10.3 mm Hg vs 15.8 ± 6.6 mm Hg, P < .001, respectively). Fewer glaucoma medications were needed after surgery (P = .01) for GFCS but not JOAG. Complications (all but 2 spontaneously resolving) included choroidal effusion (1), vitreous hemorrhage (3), Descemet detachment (1), and persistent hyphema (2). Three-year Kaplan-Meier success for GFCS vs JOAG was 75.3% vs 53.3%, respectively. CONCLUSIONS: Illuminated microcatheter-assisted 360-degree trabeculotomy is a useful, low-risk, modestly successful initial surgical treatment for both medically refractory GFCS and JOAG.

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. The 5-year results of the Infant Aphakia Treatment Study, including visual outcomes and complications, as well as other studies comparing intraocular lens implants with contact lenses for infants have shaped our management of congenital cataract. We also discuss how ocular imaging with optical coherence tomography has enhanced our understanding of the microstructural effects on pediatric eyes after cataract surgery and touch on other future innovations. SUMMARY: We review updates in the management of congenital cataract, which remains a major cause of preventable childhood blindness.

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. IOP at baseline and at 1, 3, 6, and 12 months' follow-up were compared within and each groups. RESULTS: A total of 77 eyes of 56 patients (age at surgery, 1.52 ± 2.68 years) in the traditional group and 14 eyes of 10 patients in the 360-degree group (age at surgery, 0.61 ± 0.42 years) were included. Mean baseline IOP was similar in both groups (traditional, 28.75 ± 8.80 mm Hg; 360-degree, 30.35 ± 6.04 mm Hg; t test; P = 0.43). Mean 1-year IOP was 17.05 ± 5.92 mm Hg in the traditional group and 11.0 ± 2.31 mm Hg in the 360-degree group. At 1-year, the surgical success rate was 58.44% in the traditional group and 85.71% in the 360-degree group; 32 eyes in the former and 2 eyes in the latter required another glaucoma procedure within 1 year for IOP control. For both groups, compared to baseline values, IOP decreased significantly with all postoperative measurements (paired t test, all P < 0.01). The 360-degree group had significantly lower IOP compared to the traditional group at 1-year (t test, P < 0.01). CONCLUSIONS: Both 360-degree and traditional trabeculotomy significantly reduced IOP in children through 1 year's follow-up, although the former procedure shows better 1-year postoperative IOP control, with higher rate of surgical success.

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. Visual acuity in the left eye was 20/100 at presentation. Fundus examination and ancillary tests were consistent with thermal macular injury. The laser pointer was analyzed and found to be a green diode laser with average power output of 154 mW.