Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical and electrophysiological records are of particular importance in tapetoretinal degenerations. In the absence of therapy they are at least a help in establishing a differential diagnosis and a scale of progression of the disease; these in turn lead to improved counselling possibilities. In a retrospective study of 289 patients a great variability of ophthalmoscopic, functional and electrophysiologic findings was observed. The variability was seen both in individual examination of patients of all ages at one point in time, and in genetic pattern, penetrance and expressivity, Criteria for autosomal recessive inheritance were established in 21.3% and for simplex cases in 51.6%. Constriction the retinal vessels was the most reliable ophthalmoscopic finding, seen in 74% of the cases of RP. In 68% of the cases the onset of symptoms started before the age of 20. In 62% of RP patients the visual acuity remained 0.4 or better up to the sixth decade of life. In 40% of the cases the dark adaptation threshold was normal or raised only by up to 1.5 log units. The ERG was absent in 70%, residual in 10%, and subnormal in 20% of RP patients. The residual and subnormal ERGs showed predominantly rod involvement in 77%, equal rod and cone involvement in 17%, and chiefly cone involvement in 6% of 95 cases. The most common associated abnormalities were found to be cataract in 33% and myopia in 22%. (Detailed data on impairment of visual fields and on ERG analysis are published elsewhere: Gurewitsch, K., G. Niemeyer: Rod/cone separation by electroretinography, fundus changes and visual fields in retinitis pigmentosa. In: Techniques in Clinical Electrophysiology of Vision. G. Niemeyer and C. Huber (eds). Docum. Ophthal. Proc. Ser., in press).
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PMID:[Variability of visual acuity, dark adaptation and electroretinogram in retinitis pigmentosa]. 710 86

Immunocytochemical analysis of the laminin alpha-2 (merosin) chain in the muscle of patients with Classic Congenital Muscular Dystrophy (Cl-CMD) differentiates the types of the disease associated with a merosin deficit from those that are merosin positive. Patients with Central Nervous System involvement in merosin negative Cl-CMD always present alterations of the white matter at RMI, but usually these are not clinically significant. While ocular malformations (microphthalmia, alterations of the anterior chamber, of the retina, or of the angle and cataract) and damage to the Central Nervous System are described in some subtypes of CMD (Muscle Eye Brain disease, Walker Warburg Syndrome), ocular involvement and retino-cortical conduction in merosin negative Cl-CMD are not well known. This study reports on four patients affected by merosin negative Cl-CMD. All these patients presented important alterations of the white matter associated with ventricular enlargement and, in one case, with pachygyria and micropolygyria. Refraction, visual acuity, ocular motility, anterior segment and fundus were examined. ERG Maximal, Cone and Rod response, VEP transient pattern reversal was carried out as well. Significant alterations at the standard ophthalmologic examination or of the electroretinogram responses were not registered while, in all cases, important modifications in retino cortical conduction (reduction in amplitude, increase in latency, reduction in amplitude on the lateral derivations) were observed, demonstrating involvement of the optic pathway at different levels during the course of this disease.
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PMID:Alterations of the retino-cortical conduction in patients affected by classical congenital muscular dystrophy (CI-CMD) with merosin deficiency. 1094 99