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)

Two siblings are reported who appear to have an autosomal recessive disorder of eye and central nervous system anomalies. The findings in fourteen previously described and similarly affected patients are summarized. Ocular anomalies include microphthalmos, megalocornea, the Peter anomaly, cataract, coloboma, persistent hyperplastic primary vitreous, and retinal detachment with retinal dysplasia. Central nervous system malformations include agyria-pachygyria, cerebellar dysplasia, encephalocele, Dandy-Walker cyst, and hydrocephalus. We suggest that this disorder be known as Warburg syndrome.
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PMID:Autosomal recessive eye and brain anomalies: Warburg syndrome. 640 88

Congenital ocular and related anomalies were studied in two unrelated young raccoons. One animal was anophthalmic and had severe anomalies of the central nervous system, consisting of meningoencephalocele, pachygyria, hydranencephaly, cerebellar cavitation, syringomyelia, and other defects. A second animal was microphthalmic with congenital defects of the nose, maxilla and teeth. Ocular lesions were severe and included chorioretinal coloboma, retinal folds, disorganized neuroectodermal cell layers, spherophakia, cataract and other defects. The nose had unilateral abnormal epithelium, hair follicles, sweat glands and sebaceous glands, and a lack of parietal cartilage on the affected side.
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PMID:Ocular, naso-maxillary, and neural anomalies in raccoons, Procyon lotor (L.). 641 48

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

Mutations in DYNC1H1, the gene encoding the largest cytoplasmic dynein, have been associated with a wide spectrum of neurodegenerative disorders. In this study, we describe a child in whom a novel de novo likely pathogenic variant in the motor domain of DYCN1H1 was identified through whole exome sequencing. The affected child presented with severe neurological symptoms and more extensive cortical malformations compared to previously reported cases with mutations in this gene, including diffuse pachygyria-lissencephaly and bilateral symmetric subcortical gray matter heterotopia. A more distinct aspect of the phenotype in this child is the presence of cataract in infancy. So far, only acquired bilateral cataract in adulthood has been described in this disorder in a patient with a much milder neurological phenotype. These findings could extend the phenotype associated with defective DYNC1H1 and suggest a possible important role in human ocular development.
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PMID:A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract. 2733 Oct 17