PURPOSE To describe the phenotype of a family with an autosomal dominant macular dystrophy and identify the chromosomal location of the gene that causes this phenotype. METHODS Twelve members of a three-generation family underwent routine clinical examination, including fundus photography. Four of the patients underwent extended examination with Goldmann perimetry, full-field electroretinogra...

We present a case of Retinitis Pigmentosa with atypical aspect of fundus (Punctata Albescens), associated with Cystoid Macular Oedema and Optic Disc Drusen.

OBJECTIVE We evaluated monozygotic twin pairs with discordant age-related macular degeneration (AMD) phenotypes to assess differences in behavioral and nutritional factors. DESIGN Case series. PARTICIPANTS Caucasian male twin pairs from the United States Twin Study of Macular Degeneration. METHODS Twin pairs were genotyped to confirm monozygosity. Ocular characteristics were evaluated bas...

PURPOSE The purpose of this study is to identify the genetic defect in a Turkish family with autosomal recessive retinitis pigmentosa, nanophthalmos, and optic disc drusen. METHODS Ophthalmological examinations consisted of measuring the best-corrected visual acuity and the refractive error, electroretinography, optical coherence tomography, B-mode ultrasonography, and fundus photography. The...

AIMS To analyse the histopathology of "deep retinal vascular anomalous complex" or "chorioretinal anastomosis". METHODS Six patients with a deep retinal vascular anomalous complex (age range 66-88 years) had fundus photography and fluorescein angiography not more than 14 days before foveal translocation surgery. Four patients were also documented with indocyanine green angiography. The surgic...

Purpose. To compare color fundus photography (FP), fluorescein angiography (FA), and spectral domain optical coherence tomography (SDOCT) for the detection of age-related macular degeneration (AMD), choroidal neovascularisation (CNV), and CNV activity. Methods. FPs, FAs, and SDOCT volume scans from 120 eyes of 66 AMD and control patients were randomly collected. Control eyes were required to sh...

Purpose To refine the Minnesota Grading System (MGS) using definitions from the Age-Related Eye Disease Studies (AREDS) into a nine-step grading scale (MGS-9). Methods A nine-step grading scale descriptive analysis using three key phenotypic features (total drusen area, increased, and decreased pigmentation) of human eyebank eyes that were graded according to definitions from the AREDS criter...

l'rircuiar polarizers have been used v for difrerent ophthalmic applications, such as ophthalmoscopy,' lens photography,' and corneai endothelial microscopy.3 To the best of our knowledge, circular polarizers have not been applied to fundus photography. A linear polarizer polarizes light in a plane. In fundus photography, it has been used to show the birefringence of the nerve fiber layero and ...

Visualizing and tracking drusen is important in managing age-related macular degeneration. Color fundus photography (CFP) is common in clinical practice, but quantitative evaluation of drusen in CFPs is difficult because of the varying background of the macula, retinal pigment epithelium (RPE), and choroid. Spectral-domain optical coherence tomography (OCT) provides high-resolution visualizatio...

We investigate the utility of infrared fundus examination in a case of lecithin cholesterol acyltransferase (LCAT) deficiency. A 57-year-old woman presented with blurred vision in both eyes. Her eyes had been grayish blue since a young age. She was diagnosed as LCAT deficiency at the age of 50. Slit-lamp examination revealed diffuse bilateral opacity of the corneal stroma. Because of the hazy v...