An unusual pAIR: Anti-PKM2 antibody and occult pancreatic adenocarcinoma.

Purpose: To describe the clinical, laboratory and multimodal imaging findings in paraneoplastic autoimmune retinopathy (p-AIR) associated with anti-pyruvate kinase M2 antibody (anti-PKM2) and occult pancreatic adenocarcinoma.

Observations: A 70 year old male with blurred vision, nyctalopia and concurrent difficulty with glucose control had retinal vascular attenuation and diffuse punctate pigment clumping in both eyes. Multimodal imaging demonstrated corresponding stippled hypofluorescence on fluorescein angiography, stippled hyperautofluorescence and a hyperautoflourescent macular ring with fundus autofluorescence, and focal hyperreflectivity at the level of the RPE-Bruch's membrane complex with diffuse loss of outer retinal layers on ocular coherence tomography.

Sudden vision loss heralding COVID-19-associated aspergillosis. Report of 2 cases.

Purpose: To describe clinical, radiographic, laboratory and cytopathologic findings in 2 patients who developed vision loss due to endogenous aspergillus endophthalmitis during hospitalization for COVID-19 pneumonia.

Observations: Two unvaccinated sexagenarian male smokers lost vision within one month of contracting COVID-19 pneumonia. Initially, both received high dose steroids, nasal cannula oxygen and remdesivir.

Pneumatic Retinopexy with Focal Laser Photocoagulation for Myopic Foveoschisis with Macular Detachment.

Purpose: To describe the clinical course and imaging of a case of myopic foveoschisis (MF) with macular detachment (MD), microbreak and epiretinal membrane (ERM) managed with pneumatic retinopexy (PR) and focal laser photocoagulation (FLP) of the microbreak.

Methods: Retrospective Case Review of a highly myopic, phakic Caucasian man who developed vision loss due to MF with MD.

Results: 66 year old phakic man with a refractive error of -13.

Prototype Development: Context-Driven Dynamic XML Ophthalmologic Data Capture Application.

Background: The capture and integration of structured ophthalmologic data into electronic health records (EHRs) has historically been a challenge. However, the importance of this activity for patient care and research is critical.

Objective: The purpose of this study was to develop a prototype of a context-driven dynamic extensible markup language (XML) ophthalmologic data capture application for research and clinical care that could be easily integrated into an EHR system.

CASE OF METASTATIC UROTHELIAL CARCINOMA OF THE RETINA AND VITREOUS.

Purpose: To report a rare case of vitreo-retinal metastasis from urothelial carcinoma of the bladder.

Methods: Case report.

Results: A 55-year-old man with a history of bladder cancer developed atypical vitritis and a white fundus mass.

A CASE OF METASTATIC UROTHELIAL CARCINOMA OF THE RETINA AND VITREOUS.

Purpose: To report a rare case of vitreoretinal metastasis from urothelial carcinoma of the bladder.

Methods: Case report.

Results: A 55-year-old male with a history of bladder cancer developed atypical vitritis and a white fundus mass.

Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium.

Primary open angle glaucoma (POAG) is a complex disease and is one of the major leading causes of blindness worldwide. Genome-wide association studies have successfully identified several common variants associated with glaucoma; however, most of these variants only explain a small proportion of the genetic risk. Apart from the standard approach to identify main effects of variants across the genome, it is believed that gene-gene interactions can help elucidate part of the missing heritability by allowing for the test of interactions between genetic variants to mimic the complex nature of biology.

Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network.

Bioinformatics approaches to examine gene-gene models provide a means to discover interactions between multiple genes that underlie complex disease. Extensive computational demands and adjusting for multiple testing make uncovering genetic interactions a challenge. Here, we address these issues using our knowledge-driven filtering method, Biofilter, to identify putative single nucleotide polymorphism (SNP) interaction models for cataract susceptibility, thereby reducing the number of models for analysis.

Cancer-associated retinopathy with unusual retinal whitening.

Purpose: To describe the clinical characteristics and results of ocular and systemic testing in an atypical case of cancer-associated retinopathy.

Methods: This study is a retrospective case report of a female patient.

Results: Rapidly progressive visual loss, vitritis, white, ring- and coin-shaped retinal lesions, and panretinal optical coherence tomography thinning preceded the diagnosis of poorly differentiated cervical carcinoma with neuroendocrine features consistent with small-cell carcinoma.

Role of complement cascade in abdominal aortic aneurysms.

Objective: The goal of this study was to investigate the role of complement cascade genes in the pathobiology of human abdominal aortic aneurysms (AAAs).

Methods And Results: Results of a genome-wide microarray expression profiling revealed 3274 differentially expressed genes between aneurysmal and control aortic tissue. Interestingly, 13 genes in the complement cascade were significantly differentially expressed between AAA and the controls.

The role of complement Factor H in age-related macular degeneration: a review.

Factor H is a 155kDa sialic acid containing glycoprotein that plays an integral role in the regulation of the complement-mediated immune system that is involved in microbial defense, immune complex processing, and programmed cell death. These events take place primarily in fluid phase and on the cell surface and are particularly important in the context of distinguishing self from non-self. Activation of the complement system occurs within seconds and results in a proteolytic cascade eventually forming the membrane attack complex leading to cell lysis.

X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family.

Purpose: To describe a novel point mutation in the initiation codon of the XLRS1 gene in a large family and the clinical features of males affected with X-linked juvenile retino-schisis.

Methods: Genealogic investigation and mutation screening of the XLRS1 gene were performed for a 4-generation family consisting of 72 members. Affected males were evaluated clinically between 1986 and 2004 with up to 18 years of follow-up.

X-linked retinoschisis: a clinical and molecular genetic review.

X-linked retinoschisis is a leading cause of macular degeneration in male children. It is characterized by a high degree of clinical variability. Clinical features include a stellate foveal retinoschisis, with or without peripheral retinoschisis.

Posterior segment manifestations of HIV/AIDS.

The ocular posterior segment manifestations of AIDS may be divided into four categories: retinal vasculopathy, unusual malignancies, neuro-ophthalmologic abnormalities, and opportunistic infections. Microvasculopathy is the most common manifestation. Opportunistic infections, particularly cytomegalovirus retinitis and progressive outer retinal necrosis, are the most likely to result in visual loss due to infection or subsequent retinal detachment.

Voluntary suppression of the multifocal electroretinogram.

Objective: To describe multifocal electroretinogram (mfERG) responses in 2 patients with nonorganic visual loss and in 11 eyes of 6 healthy persons who suppressed their mfERG responses.

Design: Observational case series.

Methods: The mfERG results were recorded in all individuals using the Veris Science 4.

Exudative retinal detachment due to small noncalcified retinal astrocytic hamartoma.

Purpose: To report a case of exudative retinal detachment due to small noncalcified retinal astrocytic hamartoma and review pertinent literature.

Design: Case report and review of literature.

Methods: Clinical examination, fluorescein angiography, optical coherence tomography, and laser treatment were performed.

X-linked retinoschisis: report of a family with a rare deletion in the XLRS1 gene.

Purpose: To describe the clinical features and identify the disease causing mutation in a family with X-linked retinoschisis.

Design: Cohort study.

Methods: Genealogical investigation and mutation screening of the XLRS1 gene were performed in a four generation family of Icelandic ancestry.

Autosomal dominant Stargardt-like macular dystrophy: identification of a new family with a mutation in the ELOVL4 gene.

Purpose: To describe the clinical features and identify the mutation responsible for an autosomal dominant macular degeneration occurring in a four-generation family.

Methods: Family members underwent clinical examination and genealogical characterization. Mutation screening of the ELOVL4 gene was performed.

Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene.

Stickler syndrome (progressive arthro-ophthalmopathy) is a genetically heterogeneous disorder resulting from mutations in at least three collagen genes. The most common disease-causing gene is COL2A1, a 54-exon-containing gene coding for type II collagen. At least 17 different mutations causing Stickler syndrome have been reported in this gene.

Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.

Cone rod dystrophy 5 (CORD5) is an autosomal dominant retinal disease that primarily affects cone function. The locus has previously been mapped to human chromosome 17p12-p13 between the markers D17S926/D17S849 and D17S945/D17S804. One of our "unaffected" recombinant individual from family 1175 was subsequently found to cross through this interval.

Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.

Purpose: To describe the clinical features and identify the mutation responsible for an autosomal dominant vitreoretinal degeneration occurring in a previously unreported large family.

Design: Cohort study.

Methods: Family members were evaluated clinically over a 30-year period.