Disease relevance of Ectopia Lentis

• Study of a 4 1/2-year-old boy with the unusual combination of acute infantile hemiplegia, ectopia lentis and the absence of homocystinuria showed large amounts of abnormal sulfur-containing metabolites (sulfite, thiosulfate and S-sulfocysteine) in the urine [1].
• BACKGROUND: Mental retardation and other disabilities (including ectopia lentis, osteoporosis, and thromboembolism) in patients who have homocystinuria as a result of a deficiency of cystathionine beta-synthase can be prevented by the screening of newborns with measurement of blood methionine, followed by the early treatment of affected infants [2].
• Marfan patients with and without MVP had similar arm span, arm span to height ratio, upper to lower segment ratio, and prevalence of ectopia lentis and thoracic bony abnormalities, but arachnodactyly was more frequent in those with MVP (82% and 48%, respectively; p less than 0.02) [3].
• Specifically, these two patients have microstomia, "pursed" lips, and ectopia lentis, and their radiographs reveal no coronal clefts [4].
• Abnormal afferent visual inputs to cortical centers caused by ectopia lentis, craniofacial abnormalities, and mechanical and genetic factors may all contribute to the higher prevalence of strabismus in this disease [5].

High impact information on Ectopia Lentis

• Ocular manifestations were among the most consistent features (ectopia lentis in 86%, myopia in 80%) [6].
• The finding that the two patients who are homozygous for I278T have only ectopia lentis and mild bone demineralization suggests that this mutation is associated with both in vivo pyridoxine responsiveness and mild clinical disease [7].
• A significantly higher incidence of ectopia lentis was found in the patients with MFS with an FBN1 mutation vs those without (P=.04) [8].
• OBJECTIVE: To evaluate status of conjunctival fibrillin-1 in patients with Marfan syndrome with ectopia lentis [9].
• The association of craniosynostosis with ectopia lentis is extremely rare [10].

Chemical compound and disease context of Ectopia Lentis

• Interference with collagen cross-linking by sulfhydryl groups of homocysteine causes ectopia lentis and skeletal deformities [11].
• Emergency use of pilocarpine and pupil block glaucoma in ectopia lentis [12].
• DESIGN: Clinical and laboratory data were collected from patients diagnosed as having homocystinuria due to cystathionine synthase deficiency, with special reference to the ages at which the patients had their first major signs of the disease, ectopia lentis was established, and homocystinuria was diagnosed [13].
• Most strikingly, there was a significantly lower incidence of ectopia lentis in patients who carried a mutation that led to a premature termination codon (PTC) or a missense mutation without cysteine involvement in FBN1, as compared to patients whose mutations involved a cysteine substitution or splice site alteration [14].

Biological context of Ectopia Lentis

• FBN1 mutations have been found not only in MFS but also in a range of connective tissue disorders collectively termed fibrillinopathies ranging from mild phenotypes, such as isolated ectopia lentis, to severe disorders including neonatal MFS, which generally leads to death within the first two years of life [15].

Anatomical context of Ectopia Lentis

• CONCLUSIONS: Pars plana lensectomy-vitrectomy and anterior chamber intraocular lens implantation appears to be an excellent technique for the management of ectopia lentis associated with Marfan syndrome [16].
• The main ocular features of WMS are microspherophakia (small and spherical crystalline lens), ectopia lentis (a displaced or malpositioned lens), severe myopia and glaucoma [17].

Gene context of Ectopia Lentis

• New fibrillin 1 gene mutations have been identified in patients with Marfan syndrome, the neonatal form of Marfan syndrome, and ectopia lentis [18].
• Retinitis pigmentosa associated with ectopia lentis [19].
• PURPOSE: To describe a simple technique of scleral suspension-pars plana lensectomy (SS-PPL) in acquired and congenital ectopia lentis and scleral fixation of intraocular lens (IOL) [20].

References