OBJECTIVE To report the clinical, functional, and in vivo microanatomic characteristics of a family with choroideremia with a deletion of the entire gene that encodes for the Rab escort protein 1 (CHM). METHODS We performed clinical examination, flash electroretinography (ERG), light- and dark-adapted perimetry, and optical coherence tomography; reviewed medical records; and obtained the medi...

Congenital simple hamartoma of the retinal pigment epithelium (CSHRPE) is a rare tumor speculated to arise from the retinal pigment epithelium (RPE). A case of CSHRPE is presented herein along with the related literature. A healthy 20-year-old Middle-Eastern man was evaluated for an asymptomatic retinal lesion found on routine examination of his left eye. Fluorescein angiogram, spectral domain ...

PURPOSE To understand the difference between macular and peripheral regions, tissue samples of human retina, retinal pigment epithelium, and Bruch's membrane/choroid were dissected and analyzed for lipid composition. METHOD To facilitate dissections and enhance the recovery of tissues, eyecups were prefixed for 1 hour in 10% formalin (pH 7). Lipids were extracted from 4-mm trephined punches o...

OBJECTIVE Toxicity of intense light to facilitate the development of neovascular age-related macular degeneration has been a health concern although the mechanism remains unclear. METHODS AND RESULTS Effects of intense, but within physiological range, light on retinal pigment epithelium, a major pathogenic origin of age-related macular degeneration were studied in mice. Intense physiological ...

Untargeted mutation and delayed mutation are features of radiation-induced genomic instability and have been studied extensively in tissue culture cells. The mouse pink-eyed unstable (p(un)) mutation is due to an intragenic duplication of the pink-eyed dilution locus and frequently reverts back to the wild type in germ cells as well as in somatic cells. The reversion event can be detected in th...

Panretinal Photocoagulation (PRP) has been approved as an effective treatment for stopping retinal neovascularization in patients with severe diabetic retinopathy [1-3]. This treatment constitutes performing multiple laser photocoagulation sessions on the peripheral retina with the purpose of destroying photoreceptor and retinal pigment epithelium cells under the treated retina. While PRP damag...

CLINICAL CASE This report is based on the case of a 35-year-old woman who developed a combined hamartoma of the retina and retinal pigment epithelium in her right eye. The diagnosis was determined based on the fundus examination: hyperplasia of the retinal pigment epithelium cells, tortuosity of the vessels and epiretinal membrane. DISCUSSION Optical coherence tomography and retinal angiograp...

Mechanisms of brain and retinal iron homeostasis have become subjects of increased interest after the discovery of elevated iron levels in brains of patients with Alzheimer's disease and retinas of patients with age-related macular degeneration. To determine whether the ferroxidase ceruloplasmin (Cp) and its homolog hephaestin (Heph) are important for retinal iron homeostasis, we studied retina...

PURPOSE Normal retina is firmly attached to the retinal pigment epithelium, but the force of this adhesion drops precipitously within the first 2-3 min after enucleation. The purpose was to study metabolic factors that might be relevant to this postmortem failure of adhesion. METHODS Dutch rabbit retina was manually peeled from the retinal pigment epithelium on strips of enucleated eyecup wit...