Journal articleOphthalmic Genet · February 2026
INTRODUCTION: Short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome is a rare autosomal recessive condition associated with variants in the NBAS gene. First described in 2010, SOPH syndrome is a relatively newly recognized condition and our ...
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Journal articleCurrent Ophthalmology Reports · December 1, 2025
Purpose of Review: To report on the use of chemotherapy and immunotherapy for advanced T3 or T4 ocular surface squamous neoplasia (OSSN). Recent Findings: Surgical excision has traditionally been the mainstay of treatment for ocular surface squamous neopla ...
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Journal articleOphthalmic Genet · December 2025
INTRODUCTION: Pathogenic variants in TUBB4B, which encodes the β-tubulin 4B isotype of microtubule subunits, have been associated with Leber congenital amaurosis with early-onset deafness (LCAEOD), an autosomal dominant condition characterized by early and ...
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Journal articleNPJ genomic medicine · April 2025
Ciliopathies are associated with a range of phenotypes including retinal degeneration and skeletal abnormalities. We present a retrospective study of 49 patients with variants in Cilia and Flagella Associated Protein 410 (CFAP410) from multiple ophthalmic ...
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Journal articleAmerican journal of ophthalmology · March 2025
PurposeTo report the long-term disease course of pentosan polysulfate (PPS) maculopathy following drug cessation.DesignSingle-institution, prospective case series.Methods23 eyes of 12 participants seen at the Emory Eye Center wit ...
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Journal articleFrontiers in pharmacology · January 2025
IntroductionWe describe a novel colopathy associated with pentosan polysulfate (PPS) use and assess the strength of the drug-disease association in a two-part investigation.Methods1. Cohort Study: We studied individuals with a history of ...
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Journal articleOphthalmic Genet · October 2024
INTRODUCTION: Caused by mutation or deletion of the CHM gene, choroideremia is a rare X-linked recessive chorioretinal dystrophy characterized by progressive degeneration of the retinal pigment epithelium, photoreceptors, and the choriocapillaris. There ar ...
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Journal articleOphthalmology. Retina · February 2024
PurposeTo explore the risk factors and fundus imaging features of vitamin A deficiency retinopathy (VADR) in an academic tertiary referral center in Atlanta, GA, United States, and to propose guidance regarding diagnostic workup and management of ...
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Journal articlePediatric dermatology · July 2023
Immunoglobulin A vasculitis (IgAV) is the most common vasculitis of childhood characterized by petechial or purpuric rash, abdominal pain, arthralgia, and renal involvement. Ophthalmic manifestations of IgAV are uncommon. Herein, we describe a case of bila ...
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Journal articleJAMA ophthalmology · March 2023
ImportancePrior retrospective studies have provided limited evidence on disease progression following drug cessation in patients with maculopathy associated with pentosan polysulfate (PPS).ObjectiveTo evaluate the 2-year evolution of macu ...
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Journal articleOncology · January 2023
IntroductionCheckpoint inhibitors (CPI) have significantly improved survival among patients with various cancer types. Prior studies have shown a correlation between immune cell infiltration and poorly differentiated cancers. This study evaluated ...
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Journal articleOphthalmic plastic and reconstructive surgery · July 2022
PurposeTo document a case of phakomatous choristoma (PC), a rare benign periocular tumor, and to review the literature on previously reported cases.MethodsThe authors describe a case of PC and its clinical, histopathological, immunohistoc ...
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