Purpose: To describe the retinal phenotype of an unusual case of anti-TRPM1 autoantibody-positive unilateral melanoma-associated retinopathy (MAR) triggered by nivolumab therapy and compare with the phenotype of TRPM1-associated Congenital Stationary Night Blindness (TRPM1-CSNB). Observations: Unilateral MAR was diagnosed 3 months after starting nivolumab therapy for consolidation of a successfully treated melanoma. Retinal autoantibodies against TRPM1 were identified. ffERG, microperimetry and static chromatic perimetry confirmed unilateral ON-Bipolar Cell (ON-BPC) dysfunction and central rod sensitivity losses in the left eye; the contralateral eye was normal. There was borderline ganglion cell (GCL) and inner nuclear layer (INL) thinning, but a significantly thinner inner plexiform layer (IPL) in the affected compared to the unaffected eye. Longitudinal reflectivity profiles (LRPs) demonstrated an abnormal inner plexiform layer (IPL) lamination in the involved eye. Nearly identical changes were documented in two cases of TRMP1-cCSNB and in a case of anti-TRPM1 autoantibody-negative MAR. The functional changes partially recovered with discontinuation of the medication without added immunosuppression. Conclusions and Importance: Comparisons between the affected and unaffected eye in this unilateral MAR case revealed inner retinal abnormalities and abnormal lamination of the IPL associated with the classical retina-wide ON-BPC dysfunction, and localized central rod-mediated sensitivity losses. A nearly identical structural phenotype in two cases of cCSNB and a case of anti-TRPM1 autoantibody-negative MAR supports a specific structural-functional phenotype for these conditions with ON-BPC dysfunction.

PURPOSE:Exudative retinal detachment (ERD) may result from laser photocoagulation for retinopathy of prematurity. Although risk factors have been hypothesized from case reports, comparative studies have not been reported. We sought to evaluate risk factors for ERD following laser, comparing affected and unaffected infants. METHODS:Retrospective cohort study of infants undergoing retinopathy of prematurity laser at the Children's Hospital of Philadelphia over 6 years. All received near-confluent laser of avascular retina. Demographic, medical, and procedural risk factors for ERD were evaluated in univariate analysis because of the rarity of ERD. RESULTS:Among 149 lasered infants, 6 infants (4%, 95% confidence interval [CI] 1.5%-8.6%) developed ERD. Race was a significant risk factor ( P = 0.01). Among 71 African American or Hispanic infants, 6 (8.5%, 95% CI 3.2%-17.5%) developed ERD. Among 78 non-African American or Hispanic infants, 0 (0%, 95% CI 0%-4.6%) developed ERD. There were no significant differences in the other studied factors. CONCLUSION:Exudative retinal detachment was uncommon (4%) following retinopathy of prematurity laser. Despite so few cases, darker pigmented race with likely increased pigmented fundi was significantly associated with an increased ERD risk. Further study may reveal whether increased choroidal pigment causes greater laser tissue damage or makes it difficult to discern the ora, resulting in inadvertent lasering of the ciliary body, leading to ERD.

INTRODUCTION:Currently, little is known regarding bone health surveillance for glucocorticoid-exposed non-infectious uveitis (NIU) patients or their baseline risks of skeletal fragility outcomes. METHODS:Using claims data, we calculated rates of dual-energy x-ray absorptiometry (DXA) screening for glucocorticoid-exposed NIU and rheumatoid arthritis (RA) patients. Separately, we compared risks of skeletal fragility metrics amongst NIU patients, RA patients, and controls, independent of glucocorticoid use. RESULTS:The adjusted hazard ratio (aHR) of NIU patients to have a DXA scan was 0.64 (95% CI, 0.63-0.65; p < .001) compared to RA patients. The aHR for any skeletal fragility outcome amongst NIU patients was 0.97 (p < .02) compared to normal controls, while RA patients had excess risk (aHR, 1.15; p < .001). CONCLUSIONS:NIU patients are 36% less likely to receive a DXA scan after high-dose glucocorticoid exposure compared with RA patients. No elevated risk of osteoporosis for NIU patients was found compared to normal controls.

PURPOSE:To describe a case of unilateral congenital retinal macrovessel with a retinal cavernous hemangioma in a patient with Cowden syndrome (CS). In addition, we summarize previously reported cases of ocular findings in CS in the literature. METHODS:Observational case report and literature review. RESULTS:A 45-year-old White female patient with Cowden syndrome presented for routine ocular examination. She had a history of thyroid carcinoma, fallopian paratubal cyst, chromophobe-type renal cell carcinoma, multiple benign skin lesions, and macrocephaly. At presentation, she was asymptomatic with good vision. On dilated fundus examination, the right eye revealed a congenital retinal macrovessel and retinal cavernous hemangioma. Previously performed genetic testing revealed a pathogenic c.46dupT mutation in the PTEN gene, which was consistent with CS. CONCLUSION:Our patient had a history of multiple malignancies and hamartomas consistent with her genetic diagnosis of CS. We incidentally discovered a congenital retinal macrovessel with a retinal cavernous hemangioma. Patients with CS should be referred for interdisciplinary evaluation, including routine ocular examinations.

Purpose: To describe a patient with a unique retinal phenotype of probable Susac syndrome. Observations: A 47-year-old female who presented with bilateral tinnitus and vision changes was found to have bilateral sensorineural hearing loss and many bilateral retinal arteriolar Gass plaques. She had bilateral scotomas corresponding with temporal thinning and atrophy of the inner nuclear layer (INL) on OCT. Retinal examination and fluorescein angiography demonstrated minimal arteriolar wall hyperfluorescence with no evidence of acute branch retinal artery occlusion. She developed daily headaches. MRI of the brain was normal with no corpus callosal lesions. She was diagnosed with probable Susac syndrome based on the above findings. Conclusions and importance: Our patient’s bilateral high frequency sensorineural hearing loss, numerous bilateral Gass plaques, and headaches are most likely attributable to Susac syndrome. While BRAO is considered a cornerstone of retinal involvement in Susac syndrome, it may only be appreciable angiographically in the acute setting, and it is important to recognize Gass plaques as a significant diagnostic marker of disease.

Ocular surface neoplasms include ocular surface squamous neoplasms (OSSNs), melanocytic neoplasms, and lymphoproliferative neoplasms. Diagnosis requires histopathologic examination, although novel imaging modalities including in vivo confocal microscopy, anterior segment optical coherence tomography, and ultrasound biomicroscopy may aid in diagnosis. OSSN and conjunctival melanoma traditionally are treated with surgical excision with wide margins. Low-grade ocular lymphoma typically is treated with radiotherapy and high-grade ocular lymphoma with systemic chemotherapy. Adjuvant therapies including local chemotherapy, immunotherapy, and new radiotherapy regimens may plan an increasing role, whereas new genetic discoveries may yield novel targeted therapies in the future.

The most recent IC3D classification (2015) categorizes the corneal dystrophies based on genetic, clinical, and histologic characteristics. Here we review the classification of the corneal dystrophies as epithelial and subepithelial, epithelial-stromal TGFB1, stromal, and endothelial. We discuss the variety of available medical and surgical treatment modalities based on symptomatology and anatomic area of the cornea affected. We explore the recent advancements in the area of corneal regeneration without the use of donor grafts, including injection of cultured endothelial cells and gene therapy.

Background Using telemedicine for diabetic retinal screening is becoming popular especially amongst at-risk urban communities with poor access to care. The goal of the diabetic telemedicine project at Temple University Hospital is to improve cost-effective access to appropriate retinal care to those in need of close monitoring and/or treatment. Methods This will be a retrospective review of 15 months of data from March 2016 to May 2017. We will investigate how many patients were screened, how interpretable the photographs were, how often the photographs generated a diagnosis of diabetic retinopathy (DR) based on the screening photo, and how many patients followed-up for an exam in the office, if indicated. Results Six-hundred eighty-nine (689) digital retinal screening exams on 1377 eyes of diabetic patients were conducted in Temple’s primary care clinic. The majority of the photographs were read to have no retinopathy (755, 54.8%). Among all of the screening exams, 357 (51.8%) triggered a request for a referral to ophthalmology. Four-hundred forty-nine (449, 32.6%) of the photos were felt to be uninterpretable by the clinician. Referrals were meant to be requested for DR found in one or both eyes, inability to assess presence of retinopathy in one or both eyes, or for suspicion of a different ophthalmic diagnosis. Sixty-seven patients (9.7%) were suspected to have another ophthalmic condition based on other findings in the retinal photographs. Among the 34 patients that were successfully completed a referral visit to Temple ophthalmology, there was good concordance between the level of DR detected by their screening fundus photographs and visit diagnosis. Conclusions Although a little more than half of the patients did not have diabetic eye disease, about half needed a referral to ophthalmology. However, only 9.5% of the referral-warranted exams actually received an eye exam. Mere identification of referral-warranted diabetic retinopathy and other ophthalmic conditions is not enough. A successful telemedicine screening program must close the communication gap between screening and diagnosis by reviewer to provide timely follow-up by eye care specialists.