DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study.

PURPOSE: To characterize the ocular phenotype of DICER1 syndrome. DESIGN: Prospective, single-center, case-control study. PARTICIPANTS: One hundred three patients with an identified germline pathogenic DICER1 variant (DICER1 carriers) and 69 family control participants underwent clinical and ophthalmic examination at the National Institutes of Health between 2011 and 2016. METHODS: All participants were evaluated with a comprehensive ophthalmic examination, including best-corrected visual acuity, slit-lamp biomicroscopy, and a dilated fundus examination. A subset of patients returned for a more detailed evaluation including spectral-domain OCT, color fundus photography, fundus autofluorescence imaging, visual field testing, full-field electroretinography, and genetic testing for inherited retinal degenerative diseases. MAIN OUTCOME MEASURES: Visual acuity and examination findings. RESULTS: Most DICER1 carriers (97%) maintained a visual acuity of 20/40 or better in both eyes. Twenty-three DICER1 carriers (22%) showed ocular abnormalities compared with 4 family controls (6%; P = 0.005). These abnormalities included retinal pigment abnormalities (n = 6 [5.8%]), increased cup-to-disc ratio (n = 5 [4.9%]), optic nerve abnormalities (n = 2 [1.9%]), epiretinal membrane (n = 2 [1.9%]), and drusen (n = 2 [1.9%]). Overall, we observed a significant difference (P = 0.03) in the rate of retinal abnormalities in DICER1 carriers (n = 11 [11%]) versus controls (n = 1 [1.5%]). One patient demonstrated an unexpected diagnosis of retinitis pigmentosa with a novel variant of unknown significance in PRPF31, and 1 showed optic nerve elevation in the setting of increased intracranial pressure (ICP) of unclear cause. Three patients (3%) demonstrated DICER1-related ciliary body medulloepithelioma (CBME), 2 of which were identified during routine examination, a higher rate than that reported previously. CONCLUSIONS: Ophthalmologists should be aware of the ophthalmic manifestations of DICER1 syndrome, and individuals and families should be counseled on the potential signs and symptoms. We recommend that children with a germline pathogenic variant in DICER1, especially those younger than 10 years, undergo annual dilated ophthalmic examination, looking for evidence of CBME, signs of increased ICP, and perhaps changes in the retinal pigment epithelium.

Five-Year-Old Boy With Behavioral Changes and Papilledema.

A 5-year-old boy had initial symptoms of behavioral changes, nausea, vomiting, headache, weight loss, and progressive vision failure. Brain MRI revealed abnormal signal intensity in both optic nerves, the optic chiasm, the right medial temporal lobe, and tissues surrounding the right supraclinoid internal carotid artery with associated leptomeningeal and spinal cord enhancement. After nondiagnostic dural and spinal arachnoid biopsies, a temporal lobe biopsy was diagnostic for a rare malignant peripheral nerve sheath tumor.

Pediatric ophthalmology inpatient consults at a tertiary care children's hospital.

PURPOSE: To analyze the pattern of pediatric ophthalmology inpatient consults at a single children's hospital over 5 years. METHODS: The records of all pediatric ophthalmology consults over a 5-year period were reviewed retrospectively. RESULTS: A total of 1,805 new pediatric inpatient consultations were requested, most commonly for papilledema (14.18%), workup for unknown systemic disease (12.96%), and nonaccidental trauma (8.92%). In 50.86% of consults, an abnormal eye examination was found. When consulted for papilledema or nonaccidental trauma (NAT), we found a positivity rate of 26.56% and 27.95%, respectively. The most common ocular abnormalities noted were orbital/preseptal cellulitis (3.82%), optic disk edema (3.77%), and retinal hemorrhages (3.05%). Over the 5-year period, there was a significant increase in consults to rule out papilledema (P = 0.0001) and for trauma/nonaccidental trauma (P = 0.04) and a decrease in consults for workup of systemic disease (P = 0.03) and to rule out fungal endophthalmitis (P = 0.0007). CONCLUSIONS: We found an abnormal eye examination in half of our consults. When consulted for papilledema or nonaccidental trauma (NAT), we found a positivity rate of 26.56% and 27.95%, respectively.

Subconjunctival abscess formation after strabismus surgery.

We present 5 cases of postoperative subconjunctival abscesses from two institutions and discuss their outcomes.

Corneal indices following photorefractive keratectomy in children at least 5 years after surgery.

PURPOSE: To evaluate long-term corneal outcomes in pediatric patients who underwent photorefractive keratotomy (PRK) for the treatment of refractive amblyopia. METHODS: In this prospective interventional case series, children with refractive amblyopia underwent PRK between January 1, 2007, and December 31, 2011, at Texas Children's Hospital's Department of Ophthalmology, a single tertiary eye center, and were followed for at least 5 years after surgery. Main outcome measures were 5+ years postoperative indices of corneal thickness, keratometry, degree of corneal haze, and presence or absence of keratectasia. RESULTS: Twelve eyes of 8 subjects aged 3-9 years who underwent PRK and were followed for at least 5 years were included. The mean PRK treatment dose was 8.46 D for the myopic cohort and 4.49 D for the hyperopic cohort, which removed an average of 72 µm of corneal stromal tissue in addition to the 50 µm of corneal epithelium that was removed prior to laser ablation. The mean corneal thickness was 563 µm preoperatively, which decreased to 441 µm immediately following the PRK. The mean corneal thickness 5+ years after PRK was stable, at 498 µm, because of epithelial regrowth. None of the subjects developed visually significant corneal haze or topographic evidence of keratectasia. CONCLUSIONS: In this study cohort, there were no topographic signs of keratectasia or corneal haze in children treated with PRK for high refractive error 5 years or more after surgery.

Tectonic corneal lamellar grafting for surgically-induced necrotizing scleritis after strabismus surgery: Case report & literature review.

PURPOSE: To report the first case of infectious surgically-induced necrotizing scleritis following strabismus surgery which was treated successfully with a tectonic corneal graft. OBSERVATIONS: We report a case of surgically-induced necrotizing scleritis after strabismus surgery in a 61-year-old gentleman with gout and a subconjunctival abscess. Surgical drainage of the subconjunctival abscess led to a diagnosis of scleral melt which was subsequently treated with a tectonic corneal graft along with aggressive medical management. Over the following eight months, the patient showed no signs of endophthalmitis, graft necrosis, nor graft dehiscence, and serial anterior segment optical coherence tomography imaging demonstrated anatomic stability. CONCLUSIONS AND IMPORTANCE: This case offers further insights into a rare but vision-threatening and potentially life-threatening diagnosis. In conjunction with aggressive local and systemic treatment, tectonic lamellar keratoplasty provides good therapeutic and tectonic results for scleral necrosis after strabismus surgery. This case also demonstrates the importance of screening for associated systemic risk factors in any patient with scleritis for appropriate, targeted therapy.

Juvenile Xanthogranuloma in a Pediatric Patient with Langerhans Cell Histiocytosis.

PURPOSE: To report a case of juvenile xanthogranuloma that simulated a chalazion and to discuss the association between juvenile xanthogranuloma and Langerhans cell histiocytosis. METHOD: Case report and review of literature. RESULTS: A 13-year-old boy with a prior history of Langerhans cell histiocytosis was referred to our clinic for a possible chalazion. The patient had undergone treatment for Langerhans cell histiocytosis 10 years prior. The patient underwent an excisional biopsy. Histopathology revealed a proliferation of histiocytes and lymphocytes with Touton giant cells, consistent with a diagnosis of juvenile xanthogranuloma. CONCLUSIONS: Though the relationship between Langerhans cell histiocytosis and juvenile xanthogranuloma has yet to be fully elucidated, juvenile xanthogranuloma should be included in the differential diagnosis for any former Langerhans cell histiocytosis patient presenting with a new cutaneous lesion.

Influence of the vitreomacular interface on the efficacy of intravitreal therapy for uveitis-associated cystoid macular oedema.

PURPOSE: To evaluate the effect of the vitreomacular interface (VMI) on treatment efficacy of intravitreal therapy in uveitic cystoid macular oedema (CME). METHODS: Retrospective analysis of CME resolution, CME recurrence rate and monthly course of central retinal thickness (CRT), retinal volume (RV) and best corrected visual acuity (BCVA) after intravitreal injection with respect to the VMI configuration on spectral-domain OCT using chi-squared test and repeated measures anova adjusted for confounding covariates epiretinal membrane, administered drug and subretinal fluid. RESULTS: Fifty-nine eyes of 53 patients (mean age: 47.4 ± 16.9 years) were included. VMI status had no effect on complete CME resolution rate (p = 0.16, corrected p-value: 0.32), time until resolution (p = 0.09, corrected p-value: 0.27) or CME relapse rate (p = 0.29, corrected p-value: 0.29). Change over time did not differ among the VMI configuration groups for BVCA (p = 0.82) and RV (p = 0.18), but CRT decrease was greater and faster in the posterior vitreous detachment (PVD) group compared to the posterior vitreous attachment (PVA) and vitreous macular adhesion (VMA) groups (p = 0.04). Also, the percentage of patients experiencing a ≥ 20% CRT thickness decrease after intravitreal injection was greater in the PVD group (83%) compared to the VMA (64%) and the PVA (16%) group (p = 0.027), however, not after correction for multiple testing (corrected p-value: 0.11). CONCLUSION: The VMI configuration seems to be a factor contributing to treatment efficacy in uveitic CME in terms of CRT decrease, although BCVA outcome did not differ according to VMI status.

Small hyperreflective intraretinal material observable on spectral-domain optical coherence tomography in high myopia.

With the rapid adoption of spectral-domain optical coherence tomography (SD-OCT) in clinical practice and recent advances in technology, SD-OCT has become an important tool for detecting and managing retinal pathology. The diagnosis of degenerative changes in pathologic myopia can sometimes be difficult and delayed, as the clinical presentation may be subtle. In this series, SD-OCT proved useful in the detection of small hyperreflective intraretinal material in cases in which retinal changes are minimally visible and may explain visual changes that may not have been otherwise elucidated. The results show that SD-OCT in conjunction with clinical examination may provide useful information in the management of patients with pathologic myopia.

Long-term visual outcomes following lens-sparing vitrectomy for retinopathy of prematurity.

AIM: To describe the long-term outcomes of lens-sparing vitrectomy (LSV) for retinopathy of prematurity (ROP). METHODS: Single-centre retrospective case series of eyes that underwent LSV for ROP between 1998 and 2005 and had a follow-up of at least 5 years. The primary outcome was the mean visual acuity, and secondary outcomes were the proportion of eyes without functional vision, proportion of eyes with anatomic success, proportion of Stage 4A eyes with vision better than 20/400, proportion of Stage 4B eyes with vision better than 20/800. RESULTS: Thirty-seven eyes of 30 patients (mean age at last follow-up: 7.1 years) were included in the study, while an additional 23 patients had been lost to follow-up and were not included in the study. Of eyes that underwent LSV for Stage 4A or 4B: 63% had measurable visual acuity (mean logMAR 0.92 for Stage 4A, 1.63 for Stage 4B), 19% had form vision, but neurological comorbidities precluded visual acuity measurement, and the remaining 18% had light perception or no light perception. CONCLUSIONS: While most eyes that underwent LSV for Stage 4A or 4B ROP maintain useful vision with long-term follow-up, approximately one-fifth of eyes had no functional vision, and in a further fifth, vision could not be measured due to severe neurological impairment.