![]() The irides often appear atrophic with marked transillumination of the periphery on slit lamp examination. The pupils are characteristically oval and ectopic, and often dilate poorly. Įctopia lentis et pupillae – ectopia lentis et pupillae is a rare congenital autosomal recessive (AR) disorder in which there is asymmetric eccentric pupils that are displaced in the opposite direction of a lens dislocation. In simple ectopia lentis, the lens dislocation is usually bilateral and occurs most often in the superotemporal direction. mutations to the FBN1 gene can also result in Marfan syndrome). Significant overlap exists between the genetics of simple ectopia lentis and the systemic diseases associated with ectopia lentis (e.g. These mutations often result in irregularity and degeneration of the zonular fibers, leading to lens dislocation. Mutations resulting in simple ectopia lentis include mutations to the ADAMTSL4 gene located on chromosome 1 (recessive inheritance pattern) and the FBN1 gene located on chromosome 15 (dominant inheritance pattern). Both are hereditary and can be inherited in an autosomal dominant or recessive pattern. Simple ectopia lentis – simple ectopia lentis can occur as a congenital disorder or as a spontaneous disorder later in life. Ocular diseases associated with ectopia lentis Though trauma is the most common cause of ectopia lentis, if the trauma is minor, one should consider other underlying diseases that could predispose the patient to lens dislocation. Traumatic ectopia lentis is most often the result of a direct blow to the eye, such as from a baseball or golf ball, but can also occur after blunt trauma to the head or orbit. It may be present at birth or occur at any age. The lens is being seen through dilated pupil in down gaze.Įctopia lentis can occur due to trauma, ocular disease, or systemic disease. doi:ġ0.1034/j.Traumatic dislocation of crystalline lens into vitreous cavity. A Danish national survey.Īcta Ophthalmol Scand. Patients with an isolated major criterion. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteriaįor Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on PN, Ades L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, GautierĮ, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M,īeroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf JE, Robinson.Chandra A, Patel D, Aragon-Martin JA, Pinard A, Collod-Beroud G, Comeglio P,īoileau C, Faivre L, Charteris D, Child AH, Arno G.A genotype-phenotype comparison of ADAMTSL4Īnd FBN1 in isolated ectopia lentis. Chandra A, Aragon-Martin JA, Hughes K, Gati S, Reddy MA, Deshpande C, Cormack.Ectopia lentis is a common feature of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome. Ectopia lentis can also be classified as syndromic, when it is part of a syndrome that affects multiple parts of the body. In addition, the eye problems vary among affected individuals, even those within the same family.Įctopia lentis is classified as isolated when it occurs alone without signs and symptoms affecting other body systems. In individuals with isolated ectopia lentis, each eye can be affected differently. In a small number of people with isolated ectopia lentis, tearing of the back lining of the eye ( retinal detachment ) occurs, which can lead to further vision problems and possible blindness. They may also develop clouding of the lenses ( cataracts ) or increased pressure in the eyes ( glaucoma ) at an earlier age than other adults. Affected individuals often have nearsightedness (myopia) and can have an irregular curvature of the lens or a structure that covers the front of the eye (the cornea), which causes blurred vision (astigmatism). Vision problems are common in isolated ectopia lentis. The lens may drift further off-center over time. Isolated ectopia lentis usually becomes apparent in childhood. In people with isolated ectopia lentis, the lens in one or both eyes is not centrally positioned as it should be but is off-center (displaced). The lens is a clear structure at the front of the eye that helps focus light. Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens.
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