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Vision loss in dominant optic atrophy is due to optic nerve fiber loss from mitochondria dysfunction. Dominant optic atrophy is associated with mutation of the OPA1 gene [9] found on chromosome 3, region q28-qter. Also, 5 other chromosomal genes are described as causing optic atrophy: OPA2 (x-linked), OPA3 (dominant), OPA4 (dominant), OPA5 ...
Diabetic retinopathy (also known as diabetic eye disease), is a medical condition in which damage occurs to the retina due to diabetes.It is a leading cause of blindness in developed countries and one of the lead causes of sight loss in the world, even though there are many new therapies and improved treatments for helping people live with diabetes.
A necropsy study of 737 cases showed a 2.4% incidence with 2 out of 15 (13%) bilateral, [2] perhaps indicating the insidious nature of many cases. An autosomal dominant inheritance pattern with incomplete penetrance and associated inherited dysplasia of the optic disc and its blood supply is suspected.
The optic nerve contains axons of nerve cells that emerge from the retina, leave the eye at the optic disc, and go to the visual cortex where input from the eye is processed into vision. There are 1.2 million optic nerve fibers that derive from the retinal ganglion cells of the inner retina. [ 2 ]
Macular hard drusen in the right eye. 65-year-old diabetic woman. Drusen, from the German word for node or geode (singular, "Druse"), are tiny yellow or white accumulations of extracellular material that build up between Bruch's membrane and the retinal pigment epithelium of the eye. The presence of a few small ("hard") drusen is normal with ...
It is used for rapid screening and follow-up of diseases involving deficits such as scotomas, loss of peripheral vision and more subtle vision loss. Perimetry testing is important in the screening, diagnosing, and monitoring of various eye , retinal , optic nerve and brain disorders.
Screening is an important pillar of prevention of sickle cell retinopathy as it provides the benefit of early detection and treatment thus reducing complications. [1] Screening also provides an opportunity for education of families predisposed to retinopathy as a result of a family history of sickle cell disease. [ 4 ]
Bilateral severe visual loss (simultaneous or sequential) usually occurs, but there are reports of unilateral visual loss. [3] Patients can have an associated relative afferent pupillary defect. [5] CRION is associated with at least one relapse, and up to 18 relapses have been reported in an individual. [6]