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)

The association of unilateral mandibulofacial dysostosis and anophthalmos at the same side is reported. The proband presented at the age of six months with: right anophthalmos and hypoplasia of the orbit at the same side, hypoplasia of the right mandible and maxilla, right external ear deformity, cyanotic heart disease, hemivertebrae, cataract and corneal opacity in the left eye. This case shows the maximal effect of the abnormal development of the first branchial arch (the mandible, maxilla, and ears) on the globe and the orbit. The other end of the spectrum in which the minimal effect on the globe was present (unilateral absence of choriocapillaris and retinal pigment epithelium inferiorly) was reported by Cotlier & Alghadyan in 1981. This supports the concept that abnormal development of the mandible may influence the development of the orbit and the globe. The extent of the influence of the abnormal developing first branchial arch on the eye is discussed.
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PMID:Anophthalmos and first branchial arch defects. 409 32

Several dysmorphic syndromes affect the development of both the eye and the ear, but only a few are restricted to the eye and the external ear. We describe a developmental defect affecting the eye and the external ear in three members of a consanguineous family. This syndrome is characterized by ophthalmic anomalies (microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy) and a particular cleft ear lobule. Linkage analysis and mutation screening revealed in the first exon of the NKX5-3 gene a homozygous 26 nucleotide deletion, generating a truncating protein that lacked the complete homeodomain. Morpholino knockdown expression of the zebrafish nkx5-3 induced microphthalmia and disorganization of the developing retina, thus confirming that this gene represents an additional member implicated in axial patterning of the retina.
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PMID:Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. 1842 20

A dependency was found between total protein content and cataract maturity (P=-0.91, p<0.01). LPO intensity sharply increased and remained stably high after appearance of lens opacity. A strict negative correlation was found between the content of polyunsaturated fatty acids in earwax and lens nucleus (P=-0.7, p<0.01). The content of conjugated dienes, crotonic aldehyde, and Schiff bases decreased during cataract development. The content of vitamins B(2), A, and E decreased with increasing brown coloration of lens nucleus. Studying the parameters of lipid metabolism in wax-producing glands of the external ear canal we can evaluate the disturbances in lipid metabolism in the lens, which was confirmed by the correlation between fatty acid composition of the earwax and lens nucleus. These data do not demonstrate the dependence of the lens state on earwax, but suggest general features of the process in organs and tissues during aging. Some markers in the blood of patients with cataract change during progress of lens opacity and intensification of brown coloration of lens nucleus, but these changes are inspecific and reflect general activation of peroxidation processes and antioxidant system.
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PMID:Systemic markers of age-related changes in the lens. 2286 16

Biallelic mutations in the nuclear gene LONP1 (LON peptidase 1, mitochondrial) cause CODAS syndrome (cerebral, ocular, dental, auricular, and skeletal anomalies), a systemic disease that can include infantile cataract. However, we have found that biallelic mutations in the gene can also underlie infantile cataract in the setting of minimal or no apparent extraocular findings. This report highlights our clinical experience with children referred for the management of infantile cataract who were found to harbor biallelic LONP1 gene mutations. Ptosis, external ear abnormalities, and joint abnormalities were accompanying findings and thus should raise suspicion for mutations in the gene when one or more are present in children with infantile cataract.
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PMID:Clinical features of LONP1-related infantile cataract. 2940 17