purpose : to determine the optical coherence tomography (oct) findings in eyes with idiopathic perifoveal retinal telangiectasis (ipt) methods : this study is a retrospective review of patient charts, oct, fundus photography, related to 16 eyes (11 patients). results : the most consistent finding of idiopathic perifoveal telangiectasia seen in 93.7% of eyes (15 eyes) on oct was the presence of ...

Aconitase 2 (ACO2) encodes the mitochondrial aconitase (ACO2), an enzyme catalyzing interconversion of citrate into isocitrate in the Krebs cycle. ACO2mutations have been initially associated with infantile cerebellar-retinal degeneration combining optic atrophy, retinal degeneration, severe encephalopathy, epilepsy, and cerebellar ataxia; subsequently, ACO2 mutations have also been associated ...

Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bu...

OBJECTIVE To report a case of progressive facial hemiatrophy with unusual features of contralateral brain atrophy and transcranial Doppler ultrasound evidence of autonomic dysfunction. DESIGN Case report. SETTING A teaching hospital. PATIENT A 63-year-old man who presented with a 10-year history of progressive right-sided facial atrophy and recent facial pain. RESULTS Brain magnetic res...

Glaucoma is a complex disease affecting an estimated 70 million people worldwide, characterised by the progressive degeneration of retinal ganglion cells and accompanying visual field loss. The common site of damage to retinal ganglion cells is thought to be at the optic nerve head, however evidence from other optic neuropathies and neurodegenerative disorders suggests that dendritic structures...

Progressive retinal degenerations are the most common causes of complete blindness both in human and in dogs. Canine progressive retinal atrophy (PRA) or degeneration resembles human retinitis pigmentosa (RP) and is characterized by a progressive loss of rod photoreceptor cells followed by a loss of cone function. The primary clinical signs are detected as vision impairment in a dim light. Alth...

Introduction The retina may reflect Alzheimer's disease (AD) neuropathological changes and is easily visualized with optical coherence tomography (OCT). Retinal thickness decrease has been correlated to AD, however, without information on amyloid status. We correlated retinal (layer) thickness to AD biomarkers in amyloid-positive early-onset AD (EOAD) patients and amyloid-negative controls. M...

PURPOSE Retinal detachments (RDs), a separation of the light-sensitive tissue of the retina from its supporting layers in the posterior eye, isolate retinal cells from their normal supply of nourishment and can lead to their deterioration and death. We identified a new, spontaneous murine model of exudative retinal detachment, nm3342 (new mutant 3342, also referred to as rpea1: retinal pigment ...