CRYSTALLINE RETINOPATHY IN A 6-YEAR-OLD BOY WITH HISTORY OF HIGH-DOSE TAMOXIFEN USE.

BACKGROUND/PURPOSE: To report a case of crystalline retinopathy following high-dose tamoxifen use in a pediatric patient. METHODS: Observational case report. RESULTS: A 6-year-old boy with history of more than 80-g cumulative tamoxifen use over 25 months for the treatment of atypical teratoid/rhabdoid tumor of the posterior fossa presented with a 4-month history of blurred vision. Fundus examination demonstrated multiple superficial foveal refractile opacities in each eye, and spectral optical coherence tomography revealed numerous punctate hyperreflective deposits located within the inner retina. These findings were suggestive of tamoxifen retinopathy. CONCLUSION: To our knowledge, this is the first report of multimodal retinal imaging of tamoxifen retinopathy in a pediatric patient. Given the risk of permanent vision loss, ophthalmic baseline screening and monitoring should be considered for children receiving tamoxifen.

Treatment of Congenital Ptosis in Infants With Associated Amblyopia Using a Frontalis Muscle Flap Eyelid Reanimation Technique.

PURPOSE: To determine the efficacy of a frontalis muscle flap eyelid reanimation technique for correction of severe congenital ptosis and associated amblyopia in infants. METHODS: The authors performed a retrospective chart review of patients 12 months of age or younger with unilateral or bilateral congenital ptosis and associated amblyopia or deemed at high risk for amblyopia due to visual deprivation. Following ptosis repair via a frontalis muscle flap technique, primary outcomes of postoperative eyelid position and amblyopia reversal were assessed. RESULTS: Seventeen eyes of 12 participants were included for study. Seven of these patients had simple congenital ptosis, and the remainder had ptosis as part of a syndrome. Nine were diagnosed with amblyopia preoperatively, and the remaining 3 were too young for acuity testing but had occlusion of the visual axis by the ptotic eyelid in primary gaze. Postoperatively, the mean margin-to-reflex distance 1 was 2.4 mm (range: 0.0-4.0), and 9 patients (75%) demonstrated no evidence of amblyopia. Only 2 patients had eyelid asymmetry greater than 2 mm, which in both cases was due to lack of frontalis activation by the patient secondary to ongoing visual impairment. The most common complication was lagophthalmos in 6 eyes (35.3%), with no significant associated surface keratopathy. CONCLUSIONS: The frontalis muscle flap technique may offer a new and effective approach to treating infants with severe congenital ptosis causing poor eyelid excursion and associated amblyopia while avoiding use of an implant.

Topical cyclosporine A 0.05% for recurrent anterior uveitis.

AIM: To evaluate the effectiveness of treatment with cyclosporine A 0.05% eye drops in reducing frequency and severity of recurrences in patients with recurrent anterior uveitis. METHODS: A retrospective case-crossover study was conducted by reviewing medical charts of patients treated for recurrent anterior uveitis between 2002 and 2011 at the Kellogg Eye Center by one cornea specialist. We identified patients who had been treated with topical cyclosporine A 0.05% and recorded data regarding demographics, episodes of anterior uveitis, severity of episodes and treatment modalities before and after initiation of cyclosporine A 0.05%. RESULTS: Eight patients were identified as having been treated with topical cyclosporine 0.05% in addition to standard treatment with an average follow-up of 54.9±33.9 months (range: 28-143 months). The patients had statistically significant fewer episodes of anterior uveitis, shorter duration of episodes and fewer total days of inflammation per year while on topical cyclosporine 0.05%. CONCLUSIONS: This study showed improvement of recurrent anterior uveitis in patients while on conventional treatment with cyclosporine A 0.05% compared with conventional treatment alone.

Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

IMPORTANCE: Microphthalmias are rare disorders whose genetic bases are not fully understood. HMGB3 is a new candidate gene for X-linked forms of this disease. OBJECTIVE: To identify the causative gene in a pedigree with an X-linked colobomatous microphthalmos phenotype. DESIGN, SETTING, AND PARTICIPANTS: Whole-genome sequencing and chromosome X-exome-targeted sequencing were performed at the High Throughput Sequencing Laboratory of the Genetic Resources Core Facility at the Johns Hopkins University School of Medicine on the DNA of the male proband and informatically filtered to identify rare variants. Polymerase chain reaction and Sanger sequencing were used to confirm the variant in the proband and the carrier status of his mother. Thirteen unrelated male patients with a similar phenotype were also screened. MAIN OUTCOMES AND MEASURES: Whole-genome and X-exome sequencing to identify a frameshift variant in HMGB3. RESULTS: A 2-base pair frameshift insertion (c.477_478insTA, coding for p.Lys161Ilefs*54) in the HGMB3 gene was found in the proband and his carrier mother but not in the unrelated patients. The mutation, confirmed by 3 orthogonal methods, alters an evolutionarily conserved region of the HMGB3 protein from a negatively charged polyglutamic acid tract to a positively charged arginine-rich motif that is likely to interfere with normal protein function. CONCLUSIONS AND RELEVANCE: In this family, microphthalmia, microcephaly, intellectual disability, and short stature are associated with a mutation on the X chromosome in the HMGB3 gene. HMGB3 should be considered when performing genetic studies of patients with similar phenotypes.

Comparative cost-effectiveness analysis of descemet stripping automated endothelial keratoplasty versus penetrating keratoplasty in the United States.

PURPOSE: To perform a comparative cost-effectiveness analysis of Descemet stripping automated endothelial keratoplasty (DSAEK) and penetrating keratoplasty (PK) for corneal endothelial disease. DESIGN: Retrospective cost-effectiveness analysis. METHODS: This cost-effectiveness analysis was performed from a third-party payer perspective with a 5-year time horizon. Probabilities of outcomes and complications of each of the procedures were calculated based on review of the published literature. A model was constructed to compare the costs and utilities associated with DSAEK and PK. Costs of donor tissue preparation, surgery, follow-up, postoperative complications, and procedures were considered. Utility values were based on quality-adjusted life years associated with visual acuity outcomes. Both costs and utilities were discounted at 3% per year. Sensitivity analyses were performed on key model inputs. RESULTS: Base case analysis found DSAEK to be less costly compared with PK ($9362 vs $10 239), with greater utility (3.15 vs 2.47 quality-adjusted life years). Sensitivity analyses revealed that even at graft failure rates for DSAEK approaching the rates for PK, DSAEK would still reduce costs. Varying the dislocation rate in our model showed that even at dislocation rates approaching 50%, DSAEK remained less costly. Further, with DSAEK rejection rates as high as 28%, DSAEK would remain a dominant procedure over PK. CONCLUSIONS: Comparative cost-effectiveness analysis of DSAEK versus PK indicates favorable cost and utility outcomes associated with DSAEK for treatment of corneal endothelial disease. Longer follow-up of DSAEK outcomes will provide more accurate information regarding long-term cost-effectiveness of the procedure.