Gyrate atrophy of the choroid and retina is a rare inherited form of chorioretinal degeneration due to a deficiency of ornithine aminotransferase (OAT). We localized the enzyme in rat ocular tissues using immunocytochemical procedures. Immunoreactivity was observed in the epithelia of ciliary body, iris, and lens. Retinal pigment epithelium and Müller cells were immunoreactive in the retina. A ...

Progrlsive cone dystroph!, ((:OI)), cone-rod dystrophy (CRD), choroidereruia (CHD) and rethdlis p@nentosa are fouur retinal progressive diwnl+rs which can he inherited iu a X linked fasbioo. We present 13 families afktd with ooe of tbes:r 4 disoredr;. We bare studied 16 arfecti men aurl 30 puaible feumle carriers. A completr ophtiilmic exploratiou a115 ILRG resting baoe hen done in every cxx. I...

AIMS To determine the incidence and predisposing findings for choroidal neovascularisation (CNV) in a large series of highly myopic patients. METHODS The medical records of 218 consecutive patients (325 eyes) with myopic fundus changes in the macula were reviewed. The incidence of CNV during a follow up of at least 3 years of highly myopic patients and identification of predisposing findings ...

To report a case of Boucher-Neuhäuser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. An 18-year-old man was seen for visual problems, which had been diagnosed as retinitis pigmentosa at the age of 12 years. His puberty was delayed. At 16 years of age, the patient experienced pro...

OBJECTIVE To report a new genetic variant in the rhodopsin gene (RHO) associated with an unusual autosomal dominant retinal phenotype. METHODS Detailed phenotypic characterization was performed on affected family members spanning 4 generations, including family history, best-corrected visual acuity, fundus examination, kinetic and static perimetry, full-field and multifocal electroretinograph...

PURPOSE Pigmented paravenous chorioretinal atrophy (PPCRA) is an unusual retinal degeneration characterized by accumulation of pigmentation along retinal veins. The purpose of this study was to describe the phenotype of a family with PPCRA, determine the mode of inheritance, and identify the causal mutation. METHODS Ophthalmic examination was performed on seven family members and serially det...

PURPOSE To compare the aqueous humor levels of vascular endothelial growth factor (VEGF) and pigment epithelium-derived factor (PEDF) in high myopic eyes and control eyes. METHODS Aqueous humor samples were collected from 21 highly myopic eyes of 20 patients (high myopia group) and from 30 cataract eyes of 30 patients with no choroidal neovascularization (CNV) or other ocular or systemic dise...

Objective. To observe the fellow eye in patients undergoing surgery on one eye for treating myopic traction maculopathy. Methods. 99 fellow eyes of consecutive patients who underwent unilateral surgery to treat MTM were retrospectively evaluated. All patients underwent thorough ophthalmologic examinations, including age, gender, duration of follow-up, refraction, axial length, intraocular press...

AIMS To describe two phenotypic variations of autosomal recessive retinal dystrophy occurring in a consanguineous family in a pseudodominant pattern, resulting from mutations in the ATP binding cassette transporter (ABCR) gene. METHODS Patients of this family underwent an extensive ophthalmic evaluation, including fundus photography, fluorescein angiography, and electroretinography (ERG). Gen...