Medicine and Health Sciences Commons^™

Bilateral Mastectomy, Choroidal Mass: A Curve Ball., Phillip Gordon, Carol L. Shields

Wills Eye Hospital Papers

No abstract provided.

Comparison Of Germline Versus Somatic Bap1 Mutations For Risk Of Metastasis In Uveal Melanoma., K. G. Ewens, E. Lalonde, J. Richards-Yutz, C. L. Shields, A. Ganguly

Wills Eye Hospital Papers

BACKGROUND: Germline mutations in BAP1 have been associated with BAP1-Tumor Predisposition Syndrome (BAP1-TPDS), a predisposition to multiple tumors within a family that includes uveal melanoma (UM), cutaneous melanoma, malignant mesothelioma and renal cell carcinoma. Alternatively, somatic mutations in BAP1 in UM have been associated with high risk for metastasis. In this study, we compare the risk of metastasis in UM that carry germline versus somatic BAP1 mutations and mutation-negative tumors.

METHODS: DNA extracted from 142 UM and matched blood samples was sequenced using Sanger or next generation sequencing to identify BAP1 gene mutations.

RESULTS: Eleven of 142 UM (8%) carried …

Unilateral Macular Drusen In A Young Female., Kareem Sioufi, Katherine E Talcott, Marc J Spirn

Wills Eye Hospital Papers

No abstract provided.

Pretty Peachy., Li-Anne Lim, Basil K. Williams, Carol L. Shields

Wills Eye Hospital Papers

No abstract provided.

Lacrimal Gland Tumors In Turkey: Types, Frequency, And Outcomes., Yağmur Seda Yeşiltaş, Ahmet Kaan Gündüz, Esra Erden, Carol L. Shields

Wills Eye Hospital Papers

AIM: To evaluate the clinical, radiological, and treatment features of lacrimal gland tumors.

METHODS: Retrospective review of 99 eyes of 92 patients with lacrimal gland tumors diagnosed and managed in a single institution between January 1999 and March 2017. Clinical and radiological features, histopathology, treatment methods, and prognosis were evaluated.

RESULTS: The mean patient age was 40.3 (range: 7-80)y. The diagnosis was made histopathologically in 91 (91.9%) tumors and on a clinical and radiological basis in 8 (8.1%) tumors. Final diagnoses included idiopathic orbital inflammation (pseudotumor) in 46 (46.5%) lesions, pleomorphic adenoma in 14 (14.1%), adenoid cystic carcinoma in 12 …

Ophthalmic Manifestations Of Heimler Syndrome Due To Pex6 Mutations., Nutsuchar Wangtiraumnuay, Waleed Abed Alnabi, Mai Tsukikawa, Avrey Thau, Jenina Capasso, Reuven Sharony, Chris F. Inglehearn, Alex V. Levin

Wills Eye Hospital Papers

BACKGROUND/AIMS: Pigmentary retinal dystrophy and macular dystrophy have been previously reported in Heimler syndrome due to mutations in PEX1. Here we reported the ocular manifestations in Heimler syndrome due to mutations in PEX6.

MATERIALS AND METHODS: Medical records were reviewed to identify patient demographics, ophthalmic and systemic findings, and results of diagnostic testing including whole genome sequencing.

RESULTS: Patient 1 is 12-year-old boy with a novel mutation c.275T>G (p.Val92Gly) and known mutation c.1802G>A (p.Arg601Gln) in PEX6. Patient 2 is a 7-year-old girl with the same known c.1802G>A (p.Arg601Gln) mutation and another novel missense mutation c.296G>T (p.Arg99Leu). …

Mud-Splattered Fundus, Roger Joel Welch, Xintong Li, Carol L. Shields

Wills Eye Hospital Papers

No abstract provided.

Submillimeter Retinoblastoma Monitoring Following Transpupillary Thermotherapy Using Hand-Held Optical Coherence Tomography, Mark Mcgarrey, Thamolwan Surakiatchanukul, Carol L. Shields

Wills Eye Hospital Papers

Background: Precise, submillimeter visualization of retinal microstructures is useful for treatment monitoring of retinoblastoma. Herein, we report the use of hand-held optical coherence tomography (HH-OCT) to document a nearly-invisible retinoblastoma and monitor tumor response to transpupillary thermotherapy (TTT). Case presentation: A 3-week-old boy was diagnosed with unilateral familial retinoblastoma in the left eye, classified as group B, and treated with intravenous chemoreduction. At 13-month follow-up, the tumor in the left eye was regressed, and evaluation of the right eye revealed a microscopic, nearly invisible tumor measuring 372 μm in thickness and 1.51 mm in basal dimension. The tumor was confirmed …

Patients And Animal Models Of Cngβ1-Deficient Retinitis Pigmentosa Support Gene Augmentation Approach., Simon M Petersen-Jones, Laurence M. Occelli, Paige A. Winkler, Winston Lee, Janet R Sparrow, Mai Tsukikawa, Sanford L. Boye, Vince Chiodo, Jenina E. Capasso, Elvir Becirovic, Christian Schön, Mathias W. Seeliger, Alex V. Levin, Stylianos Michalakis, William W. Hauswirth, Stephen H. Tsang

Wills Eye Hospital Papers

Retinitis pigmentosa (RP) is a major cause of blindness that affects 1.5 million people worldwide. Mutations in cyclic nucleotide-gated channel β 1 (CNGB1) cause approximately 4% of autosomal recessive RP. Gene augmentation therapy shows promise for treating inherited retinal degenerations; however, relevant animal models and biomarkers of progression in patients with RP are needed to assess therapeutic outcomes. Here, we evaluated RP patients with CNGB1 mutations for potential biomarkers of progression and compared human phenotypes with those of mouse and dog models of the disease. Additionally, we used gene augmentation therapy in a CNGβ1-deficient dog model to evaluate potential translation …