Faculty Bibliography

PURPOSE/OBJECTIVE:To describe the range of ocular manifestations in cutis marmorata telangectatica congenita (CMTC). DESIGN/METHODS:Multicenter, retrospective, nonconsecutive case series. PARTICIPANTS/METHODS:Patients with a diagnosis of CMTC referred for ophthalmologic evaluation between January 1, 2015, and December 31, 2018. METHODS:Evaluation of ocular findings at presentation, systemic manifestations suggestive of a diagnosis of CMTC, genetic testing, and visual outcomes after treatment. MAIN OUTCOME MEASURES/METHODS:Visual acuity, findings on ophthalmoscopy, and results of fluorescein angiography. RESULTS:Nine patients with CMTC diagnosed clinically based on stereotypical cutaneous vascular malformations were included. The median age at presentation was 8 weeks (range, 2 weeks-4 years). Six patients were female and 3 were male. Avascular retina was identified on dilated fundus examination, fluorescein angiography, or both in 11 eyes of 6 patients. Retinal neovascularization was present bilaterally in 2 patients at presentation. One patient demonstrated retinal venous tortuosity, and another patient showed mild straightening of nasal retinal vessels in both eyes. Two patients (2 eyes) demonstrated retinal detachment (RD). Both were managed surgically. One infant demonstrated RD, whereas the other child showed extensive neovascularization and later progressed to combined tractional-rhegmatogenous detachment. A unique constellation of lacy peripheral capillary anomalies with prominent terminal vascular bulbs was noted in 3 patients. Granular pigment abnormalities were noted in the macula in 5 patients. Two patients demonstrated glaucoma, 1 requiring surgical intervention. Two patients demonstrated features of Adams-Oliver syndrome, with genetic testing identifying a Notch1 mutation in 1 patient. CONCLUSIONS:Retinal vascular abnormalities in CMTC may occur more frequently than recognized previously. Given the variability of ocular involvement and the potential for rapidly progressive retinal vascular abnormalities and development of RD, complete ophthalmologic evaluation including measurement of intraocular pressure, gonioscopy, dilated fundus examination, and fluorescein angiography is recommended in infants with suspected CMTC shortly after birth. The distinct pattern of lacy capillary anomalies with prominent terminal bulbs seen in CMTC has not been described in other syndromes of vascular dysgenesis. Therefore, ophthalmic examination may be a valuable method to distinguish CMTC from other disorders demonstrating similar dermatologic and systemic manifestations.

PURPOSE/OBJECTIVE:To assess whether publication of Comparison of Age-related macular degeneration Treatment Trial (CATT) results and introduction of aflibercept to the marketplace affected intravitreal bevacizumab and ranibizumab utilization. DESIGN/METHODS:Retrospective analysis of treatment patterns. METHODS:We calculated weekly bevacizumab and ranibizumab utilization during 3 timeframes: (1) before CATT publication, (2) between CATT publication (4/28/2011) and assignment of a unique aflibercept billing code (1/1/2013), and (3) afterwards for 164188 Medicare beneficiaries with neovascular macular degeneration receiving ≥1 anti-Vascular Endothelial Growth Factor injections from 1/1/2008 to 12/31/2014. We identified ophthalmologists who predominantly (≥80%) administered bevacizumab or ranibizumab, and evaluated changes in preferences over the 3 periods. We replicated analyses on 881381 commercially-insured beneficiaries. RESULTS:Among 317 ophthalmologists administering predominantly ranibizumab to Medicare beneficiaries pre-CATT, 221 (69.7%) reduced ranibizumab utilization post-CATT, whereas 96 (30.3%) continued using ranibizumab ≥80% of the time. Findings were reversed among 1041 ophthalmologists who predominantly administered bevacizumab pre-CATT-777 (74.6%) continued bevacizumab-predominant use while 264 (25.4%) reduced bevacizumab utilization post-CATT. Among the 145 ophthalmologists who predominantly administered ranibizumab before aflibercept's availability, 77 (53.1%) reduced ranibizumab utilization and 68 (46.9%) continued using ranibizumab ≥80% of the time after aflibercept became available. Corresponding numbers among the 909 ophthalmologists who predominantly administered bevacizumab pre-aflibercept were 381 (41.9%) reducing and 528 (58.1%) continuing bevacizumab-predominant use. Similar results were observed for commercially-insured patients. CONCLUSIONS:Many ophthalmologists who favored ranibizumab switched to bevacizumab after CATT publication while most who favored bevacizumab prior to CATT publication continued favoring it afterwards. Aflibercept's introduction had little impact on preferences for ranibizumab or bevacizumab.

Purpose/UNASSIGNED:An important, unmet clinical need is for cost-effective, reliable, easy-to-use, and portable retinal photography to evaluate preventable causes of vision loss in children. This study presents the feasibility of a novel smartphone-based retinal imaging device tailored to imaging the pediatric fundus. Methods/UNASSIGNED:Several modifications for children were made to our previous device, including a child-friendly 3D printed housing of animals, attention-grabbing targets, enhanced image stitching, and video-recording capabilities. Retinal photographs were obtained in children undergoing routine dilated eye examination. Experienced masked retina-specialist graders determined photograph quality and made diagnoses based on the images, which were compared to the treating clinician's diagnosis. Results/UNASSIGNED:Dilated fundus photographs were acquired in 43 patients with a mean age of 6.7 years. The diagnoses included retinoblastoma, Coats' disease, commotio retinae, and optic nerve hypoplasia, among others. Mean time to acquire five standard photographs totaling 90-degree field of vision was 2.3 ± 1.1 minutes. Patients rated their experience of image acquisition favorably, with a Likert score of 4.6 ± 0.8 out of 5. There was 96% agreement between image-based diagnosis and the treating clinician's diagnosis. Conclusions/UNASSIGNED:We report a handheld smartphone-based device with modifications tailored for wide-field fundus photography in pediatric patients that can rapidly acquire fundus photos while being well-tolerated. Translational Relevance/UNASSIGNED:Advances in handheld smartphone-based fundus photography devices decrease the technical barrier for image acquisition in children and may potentially increase access to ophthalmic care in communities with limited resources.

Purpose : In many resource-challenged communities, there is an unmet need for coste ffective, portable, reliable, and easy-to-use, retinal photography to aid in the screening and diagnosis of posterior segment eye diseases to help prevent blindness. Smartphonebased fundus photography offers an elegant solution. While this technology is rapidly evolving in adults, it has lagged behind in the pediatric patient population. This study presents a feasibility analysis of a novel smartphone-based retinal imaging device tailored to pediatric retinal care. Methods : Our existing RetinaScope device, utilizing the smartphone's camera, Bluetooth connectivity, and processing power to perform 100-degree montaging, was modifed for use in a pediatric setting. This included a child-friendly 3D printed housing of animals, attention grabbing targets, enhanced image stitching and video-recording capability to capture continuous clips of the fundus exam. Fundus photographs were acquired in a pediatric outpatient clinic, inpatient bedside, emergency room, and during exam under anesthesia. The ease of image acquisition and comfort of the patient were assessed via a validated 5-point survey. Time for image acquisition per eye was also recorded. A subset of the images was graded by two independent, masked, expert graders and the accuracy of the grader to clinician diagnosis was compared. The study was approved by the University of Michigan Institutional Review Board Committee and has ClinicalTrials.gov Identifier NCT03076697. Results : Fundus photographs were acquired in 62 eyes of 42 patients. Mean age of the cohort was 6.7 years (range 6 weeks to 18 years). Average time to acquire a standard 5 field photograph of each eye was 2.3 min +/- 1.1 min. Patients rated their overall experience of image acquisition favorably, average Likert score 4.6 +/- 0.8. The diagnoses included: Coats disease, retinoblastoma, retinopathy of prematurity, commotio retinae, coloboma, ocular albinism, and optic nerve hypoplasia, among others. A sub-set of images was graded by two masked vitreoretinal specialists. There was 93% agreement between imagebased diagnosis and the treating clinician's diagnosis. Conclusions : We report a novel smartphone-based device for wide-field fundus photography in pediatric patients. Our device is able to rapidly acquire diagnostic quality images of the retina without causing undue distress to the patients

BACKGROUND AND OBJECTIVE/OBJECTIVE:Anti-vascular endothelial growth factor (VEGF) therapy is increasing in popularity for treatment of retinopathy of prematurity (ROP). Despite many technical benefits, issues remain prompting further investigation. PATIENTS AND METHODS/METHODS:Retrospective case report and literature review. RESULTS:A 42-week-old postmenstrual age female with gestational age of 28 weeks and birth weight of 990 g presented with prominent progression of peripapillary purely tractional atypical stage 4A ROP in both eyes following intravitreal bevacizumab therapy in the right eye only. CONCLUSION/CONCLUSIONS:The authors present the first reported case, to their knowledge, of a "crunch" phenomenon tractional retinal detachment from fellow eye administration of bevacizumab. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:e102-e104.].

The authors report three cases of persistent fetal vasculature (PFV) presenting with an atypical peripheral fibrovascular stalk. A 5-month-old with congenital exotropia with a vitreous hemorrhage in the right eye underwent vitrectomy, and a mid-peripheral vitreal vascular stalk was visualized within the area of hemorrhage. The second case is of an 8-year-old with two fetal vascular remnants in the right eye: (1) a stalk superotemporally extending from the pars plana to the mid-peripheral retina that was associated with a retinal break and (2) a focal lens opacity. The third case is a 12-year-old with a history of familial exudative vitreoretinopathy and peripapillary choroidal neovascular membrane found to have a peripheral vitreal stalk in the right eye. These cases demonstrate a rare form of PFV with primarily peripheral remnants. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:e83-e88.].

Purpose/UNASSIGNED:To report 2 cases of chronic macular detachment associated with peripheral retinoschisis in which surgical repair resulted in significant visual recovery. Observations/UNASSIGNED:A 44-year-old man and 60-year-old woman were evaluated for chronic macular detachment, with a duration of 5 years and 6 months, respectively. In each case, optical coherence tomography was used to establish a diagnosis of full-thickness macular detachment resulting from peripheral retinoschisis and to confirm or identify the pathogenic outer layer breaks. After surgical repair with pars plana vitrectomy, endolaser photocoagulation of outer layer breaks, and gas tamponade, both patients had significant improvement in vision. The best-corrected visual acuity improved from 20/50- to 20/20 at one year post-operatively in the first patient and from 20/1250 to 20/200 at 8 months post-operatively in the second. Conclusion and importance/UNASSIGNED:In cases of chronic schisis-detachment involving the macula, surgical intervention can sometimes result in unexpected levels of visual recovery.

An 8-year-old girl with a history of type 1 diabetes was referred for an evaluation of pigment changes in the right macula. Curvilinear hypopigmented streaks were noted in the fovea, with corresponding disruption of the photoreceptor layer on spectral domain optical coherence tomography. On further questioning, a history of laser pointer play 2 years prior was elicited, with acknowledgement of direct laser pointing in the child's eye. The family was advised to remove any commercial laser devices from the home, and observation of the pathology was recommended.

We present an updated clinical review of the pathophysiology, progression, and current treatments in pediatric patients with congenital X-linked retinoschisis (CXLRS). CXLRS is an X-linked inherited retinal degeneration characterized by splitting of the superficial layers of the retina. Most recent classification divides CXLRS into 4 distinct clinical phenotypes: type 1, foveal; type 2, foveolamellar; type 3, complex; and type 4, foveoperipheral. The majority of retinoschisis cavities remain stable throughout life and may spontaneously collapse. However, a select number of patients progress to macula-involving peripheral retinoschisis, rhegmatogenous, and combined tractional-rhegmatogenous detachments that require further intervention. Although several advances have been made over the past several decades, medical therapy remains limited to case series‒based carbonic anhydrase therapy and prophylactic laser retinopexy. Recent advances in genetic-based clinical trials with the retinoschisis gene are promising. Vitreoretinal surgical approaches remain complex, case-based, and require careful planning depending on the configuration and location of the retinoschisis cavity.