The Prevalence of Retinal Disease and Associated CNS Disease in Young Patients with Incontinentia Pigmenti.

Purpose: To evaluate the prevalence of retinal disease on fluorescein angiography (FA) in patients with incontinentia pigmenti (IP) and to compare the severity of retinal disease in those with and without known central nervous system (CNS) disease.

Design: Multi-institutional consecutive retrospective case series.

Subjects: New patients with a diagnosis of IP were seen at the Casey Eye Institute at the Oregon Health and Science University (OHSU), Moran Eye Center, University of Utah, or Bascom Palmer Eye Institute, University of Miami from December 2011 to September 2018.

Molecular Genetics and Functional Analysis Implicate Involvement in POAG Pathogenesis.

The genes in the 9p21 locus ( & ) are widely associated with Primary open-angle glaucoma (POAG). However, the functional importance of this locus in POAG pathogenesis is still unexplored. This study investigated the role of axis in POAG.

Evaluation of artificial intelligence-based telemedicine screening for retinopathy of prematurity.

Retrospective evaluation of a deep learning-derived retinopathy of prematurity (ROP) vascular severity score in an operational ROP screening program demonstrated high diagnostic performance for detection of type 2 or worse ROP. To our knowledge, this is the first report in the literature that evaluated the use of artificial intelligence for ROP screening and represents a proof of concept. With further prospective validation, this technology might improve the accuracy, efficiency, and objectivity of diagnosis and facilitate earlier detection of disease progression in patients with potentially blinding ROP.

SNP located in an repeat downstream of rs4657473, is protective for POAG in African Americans.

Aims: To determine the association of single nucleotide polymorphisms (SNPs) downstream from the gene with primary open-angle glaucoma (POAG) in African Americans (AA).

Methods: AA subjects were recruited for the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study from the Scheie Eye Institute and its satellite sites in Philadelphia. A region containing an repeat and seven SNPs, including rs4656461 near the gene, were PCR-Sanger sequenced from POAAGG cases (n=1537) and controls (n=1570).

Characterizing the "POAGome": A bioinformatics-driven approach to primary open-angle glaucoma.

Primary open-angle glaucoma (POAG) is a genetically, physiologically, and phenotypically complex neurodegenerative disorder. This study addressed the expanding collection of genes associated with POAG, referred to as the "POAGome." We used bioinformatics tools to perform an extensive, systematic literature search and compiled 542 genes with confirmed associations with POAG and its related phenotypes (normal tension glaucoma, ocular hypertension, juvenile open-angle glaucoma, and primary congenital glaucoma).

Saliva DNA quality and genotyping efficiency in a predominantly elderly population.

Background: The question of whether DNA obtained from saliva is an acceptable alternative to DNA from blood is a topic of considerable interest for large genetics studies. We compared the yields, quality and performance of DNAs from saliva and blood from a mostly elderly study population.

Methods: Two thousand nine hundred ten DNAs from primarily elderly subjects (mean age ± standard deviation (SD): 65 ± 12 years), collected for the Primary Open-Angle African-American Glaucoma Genetics (POAAGG) study, were evaluated by fluorometry and/or spectroscopy.