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Progressive Visual Loss (progressive + visual_loss)

Distribution by Scientific Domains
Medical Sciences75%

Selected Abstracts

USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II,,

HUMAN MUTATION, Issue 2 2004
Ronald J.E. Pennings
Abstract Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular responses. Three loci are known for USH2, however, only the gene for USH2a (USH2A) has been identified. Mutation analysis of USH2A was performed in 70 Dutch USH2 families. Ten mutations in USH2A were detected, of which three are novel, c.949C>A, c.2242C>T (p.Gln748X) and c.4405C>T (p.Gln1468X). Including 9 previously published Dutch USH2a families, estimates of the prevalence of USH2a in the Dutch USH2 population were made. Mutations were identified in 62% of the families. In 28% both mutated alleles were identified, whereas in 34% the mutation in only one allele was found. It is estimated that about 28% of the Dutch USH2 families have a different causative gene. Analysis of deduced haplotypes suggests that c.1256G>T (p.Cys419Phe) is a Dutch ancestral mutation, occurring in 16% of the alleles. © 2004 Wiley-Liss, Inc. [source]

Wilson's disease presenting with rapidly progressive visual loss: Another neurologic manifestation of Wilson's disease?

JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 6 2001
Paul J Gow
Abstract Wilson's disease (WD) is a rare autosomal recessive disorder of copper metabolism resulting in copper-induced tissue damage that primarily involves the liver and central nervous system. The neurologic manifestations of WD almost universally involve a derangement of basal ganglia function or psychiatric disturbance. We report the case of a 46-year-old man presenting with end-stage liver disease caused by WD who had associated rapidly progressive optic neuropathy. We also discuss the possible association between the two conditions. [source]

Macular edema in epiretinal membrane and vitreomacular traction

ACTA OPHTHALMOLOGICA, Issue 2009
C CREUZOT
Purpose Macular edema occuring during macular diseases is a frequent situation. The purpose of this course is to highlight the clinical signs and the different treatments which can be used to treat macular edema occuring during epiretinal membrane and vitreomacular traction syndrome. Methods Macular edema is frequently associated with epiretinal membranes and vitreomacular traction. Up to now, no specific preoperative macular edema phenotype can predict the postoperative recovery. Different methods were proposed to improve functional results: ILM peeling, intravitreal steroid injection, intravitreal antiangiogenic injections, Results The widespread use of transconjunctival vitrectomy, the combination of cataract and macular surgeries will probably change the indication of macular surgery leading to sooner surgical indications for better recovery. By contrast, vitreomacular traction often leads to a rapidly progressive visual loss. The analysis should distinguish diffuse diabetic macular edema which remains the only validated surgical indication of macular edema in diabetes and the vitreomacular traction without diabetes. This latter needs a rapid surgical management as macular edema is often severe. Conclusion Macular edema is a frequent situation associated to macular disease. It can compromise the outcomes after macular surgeriy. Attempts to define the best moment to consider surgery should improve the functional results. [source]

Is AZOOR an autoimmune disease?

ACTA OPHTHALMOLOGICA, Issue 2007
SF SEIDOVA
Purpose: Acute zonal occult outer retinopathy (AZOOR) is one of the "white dot syndromes" a clinically heterogeneous group of inflammatory chorioretinopathies. The etiology is not yet clear. Methods: We present a 50 years female patient with a prior history of migraine. She experienced progressive visual loss and visual field defects in the last 3 years. Preceding each episode she experienced blue flickering photopsias. Results: Visual acuity was 0,3 in the right eye and 0,6 in the left eye. Biomicroscopy showed a normal anterior segment, fundus exam revealed pigment epithelial atrophy more pronounced in the worse eye. Electrophysiology showed a marked reduction in the photopic ERG in the more affected eye. MRI demonstrated multiple white matter lesions including a corpus callosum location. Lumbar puncture showed oligoclonal bands. Further tests demonstrated hearing impairment. Therapy was instituted during the three years course of the disease with steroids, immune suppressants and plasmapheresis with visual loss being progressive. New photopsia is currently present. Conclusions: The etiology of AZOOR remains unclear. With our patient being one of the few described in the literature with concomitant multiple sclerosis, the question remains on whether there is an underlying common process of inflammatory autoimmune reactions. Whether treatment is possible, remains to be evaluated. [source]