BACKGROUND Autosomal dominant spinocerebellar ataxia type 1 is an adult onset progressive disorder with well characterized neurodegeneration in the cerebellum and brainstem. Beyond brain atrophy, few data exist concerning retinal and optic nerve involvement. OBJECTIVE To evaluate retinal changes in SCA1 patients compared to age and gender matched healthy controls. METHODOLOGY/PRINCIPAL FIND...

The aim of this study is to investigate fundus autofluorescence (FAF) as well as fluorescein angiography (FA), indocyanine green angiography (IA), and optical coherence tomography (OCT) in a patient with pigmented paravenous chorioretinal atrophy (PPCRA). A funduscopic examination revealed chorioretinal atrophy along the paravenous area in both eyes. A marked bone spicule pigment clumping toget...

Spinal muscular atrophy (SMA) is a genetic disorder which affect nervous system and is characterized with progressive distal motor neuron weakness. The survival motor neuron (SMN) protein level reduces in patients with SMA. Two different genes code survival motor neuron protein in human genome. Skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory fa...

PURPOSE To characterize ocular abnormalities associated with iris atrophy in DBA/2J mice and to determine whether mice of this strain develop elevated intraocular pressure (IOP) and glaucoma. METHODS Different approaches, including slit-lamp biomicroscopy, ophthalmoscopic examination, ultrasound backscatter microscopy, and histology were used to examine the eyes of DBA/2J mice ranging from 2 ...

Glaucoma is the second leading cause of blindness worldwide and is most notably characterized by progressive optic nerve atrophy and advancing loss of retinal ganglion cells (RGCs). The main concomitant factor is the elevated intraocular pressure (IOP). Existing treatments are focused generally on lowering IOP. However, both RGC loss and optic nerve atrophy can independently occur with IOP at n...

1.1 Macular degeneration: clinical aspects Age-related macular degeneration (AMD) is the leading cause of irreversible blindness. (Klaver, et al 1998, Klein 2007). The disease adversely affects quality of life and activities of daily living, causing many affected individuals to lose their independence in their retirement years. It is estimated that, in the USA, over 8 million people have some s...

The visual (retinoid) cycle is a fundamental metabolic process in vertebrate retina responsible for production of 11-cis-retinal, the chromophore of rhodopsin and cone pigments. 11-cis-Retinal is bound to opsins, forming visual pigments, and when the resulting visual chromophore 11-cis-retinylidene is photoisomerized to all-trans-retinylidene, all-trans-retinal is released from these receptors....

Glaucomas are a heterogeneous group of optic neuropathies characterized by progressive loss of retinal ganglion cells (RGCs) leading to visual field defects. The distinctive pattern of optic nerve degeneration results in glaucomatous cupping. The atrophy of optic nerve cells initially leads to loss of peripheral vision and visual field loss increases with increased dam‐ age to optic nerve. Worl...