Cases reported "ectopia lentis"

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1/56. Craniosynostosis associated with ectopia lentis in monozygotic twin sisters.

    ectopia lentis has rarely been reported to occur in association with craniosynostosis, and this was found only in sporadic cases. We report on twin sisters who underwent surgery for craniosynostosis and later on, at age 3 years, were found to have bilateral ectopia lentis. Molecular studies yielded a probability of monozygosity of more than 0.98. Inheritance of the syndrome may be autosomal dominant, possibly due to a new mutation, autosomal recessive, or X-linked with male lethality. ( info)

2/56. retinal degeneration associated with ectopia lentis.

    Two brothers had retinal degeneration, lens subluxation, and myopia since early life. There was no evidence of marfan syndrome, homocystinuria, or other systemic disease. They had nystagmus, myopia, inferior dislocation of the lens, and posterior subcapsular opacities in both eyes. Fundus examination showed attenuated retinal vessels, macular atrophy with occasional pigment accumulation as clumps, and perivascular sleeves. electroretinography revealed decreased photopic and scotopic responses. The visual fields were constricted. We believe this to be the first report of retinal degeneration with bilateral lens subluxation in a family. It appears to be inherited in an autosomal recessive fashion. ( info)

3/56. Scleral fixation of a capsular tension ring for severe ectopia lentis.

    A 4-year-old boy with bilateral idiopathic and progressive ectopia lentis had phacoaspiration of the lens and capsular tension ring (CTR) insertion in his left eye. Postoperatively, lens capsule centration remained poor. Single-point scleral fixation of the CTR was performed and centration of the lens capsule achieved. In-the-capsule intraocular lens (IOL) implantation was tried, but excessive IOL manipulation sliced open the capsule at the equator. Anterior vitrectomy and scleral IOL fixation were required. A similar approach was adopted in the right eye with meticulous attention given to gentle maneuvers. The operation was uneventful, with good IOL centration. Three and 11 months after surgery in the right and left eye, respectively, best corrected visual acuity was 20/50 in both eyes. Scleral fixation of the CTR, accompanied by gentle IOL manipulation, is an option to improve IOL centration in patients with severe zonular deficiency. ( info)

4/56. Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments.

    Mutations in the fibrillin-1 gene (FBN1) cause marfan syndrome (MFS), an autosomal dominant disorder of connective tissue with highly variable clinical manifestations. FBN1 contains 47 epidermal growth factor (EGF)-like modules, 43 of which display a consensus sequence for calcium binding (cbEGF). calcium binding by cbEGF modules is thought to be essential for the conformation and stability of fibrillin-1. Missense mutations in cbEGF modules are the most common mutations found in MFS and generally affect one of the six highly conserved cysteines or residues of the calcium-binding consensus sequence. We have generated a series of recombinant fibrillin-1 fragments containing six cbEGF modules (cbEGF nos. 15-20) with various mutations at different positions of cbEGF module no. 17, which is known to contain a cryptic cleavage site for trypsin. A mutation affecting a residue of the calcium-binding consensus sequence (K1300E) found in a patient with relatively mild clinical manifestations of classic MFS caused a modest increase in susceptibility to in vitro proteolysis by trypsin, whereas a mutation affecting the sixth cysteine residue of the same cbEGF module (C1320S) reported in a severely affected patient caused a dramatic increase in susceptibility to in vitro proteolysis by trypsin. A mutation at the cryptic cleavage site for trypsin abolished sensitivity of wild-type fragments and fragments containing K1300E to trypsin proteolysis. Whereas the relevance of in vitro proteolysis to the in vivo pathogenesis of MFS remains unclear, our findings demonstrate that individual mutations in cbEGF modules can affect these modules differentially and may suggest an explanation for some genotype-phenotype relationships in MFS. ( info)

5/56. Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance.

    We report four members of a Lebanese Druze family with the syndrome of lens dislocation, spontaneous filtering blebs, anterior segment abnormalities, and a distinctive facial appearance. The constellation of clinical abnormalities in these patients is not suggestive of the marfan syndrome or other connective tissue disorders associated with ectopia lentis. We previously described this syndrome in another presumably unrelated and highly inbred Druze family from the mountains of lebanon. We postulated autosomal recessive inheritance in a pseudo-dominant pedigree. A few isolated reports of similar cases are scattered in the world literature. We now confirm that this is a distinct autosomal recessive syndrome whose gene mutation is enriched in the Lebanese Druze community. ( info)

6/56. Bilateral ectopia lentis as a presenting feature of medulloepithelioma.

    ectopia lentis may be a feature of numerous systemic and ocular disorders. Kivela and Tarkkanen described an 8-year-old girl with medulloepithelioma who presented with ectopia lentis and a mass behind the temporal iris. Shields reported 2 children with medulloepithelioma who had ectopia lentis associated with neovascular glaucoma. To date, there has been no report of a child with ectopia lentis as the only presentation of an intraocular tumor. We present 2 children with malignant medulloepitheliomas who presented in this fashion. ( info)

7/56. Uncontrolled glaucoma secondary to an arteriovenous malformation in a Weill-Marchesani patient.

    BACKGROUND: weill-marchesani syndrome is a rare condition with ocular and systemic manifestations. Common ocular signs are microspherophakia, ectopia lentis, and secondary glaucoma. The glaucoma is usually treatable through medical or surgical management. The most-common arteriovenous malformation (AVM) with ocular effects is the carotid-cavernous sinus fistula. It is very uncommon to observe ocular complications from an AVM in the area of the straight sinus and vein of Galen. AVMs in any location are unusual with weill-marchesani syndrome. CASE REPORT: We present a case of severe asymmetric glaucoma in a Weill-Marchesani patient with an AVM in the area of the straight sinus and vein of Galen. The patient demonstrates the known clinical signs of weill-marchesani syndrome: short stature, microspherophakia, lens subluxation, and secondary glaucoma. An AVM is diagnosed with corresponding monocular proptosis and asymmetric glaucoma. The patient's serious systemic health problems and the location of the AVM make treatment difficult. CONCLUSION: This case documents the very unusual occurrence of unresponsive glaucoma secondary to an AVM not located in the cavernous sinus. The weill-marchesani syndrome may be partially responsible for the glaucoma. patients with weill-marchesani syndrome require early diagnosis in order to treat serious ocular and life-threatening systemic complications. ( info)

8/56. Suture fixation of a foldable acrylic intraocular lens for ectopia lentis.

    A 5-year-old boy with severe ectopia lentis had bilateral lensectomy and suture fixation of a foldable acrylic intraocular lens (IOL) through a 3.0 mm clear corneal incision. sodium hyaluronate (Healon GV) enhanced stability of the crystalline lens during aspiration and maintenance of the anterior chamber during passage of the needles through the ciliary sulcus. The haptic design of the single-piece AcrySof (Alcon) IOL permitted secure fixation of the suture to the haptic. The patient experienced rapid visual rehabilitation, achieving an uncorrected visual acuity of 20/40 in both eyes. ( info)

9/56. Craniosynostosis, ectopia lentis, and congenital heart defects: further delineation of an autosomal dominant syndrome with incomplete penetrance.

    The association of craniosynostosis with ectopia lentis is extremely rare. This was recently reported in monozygotic twin sisters, supporting a genetic etiology for this syndromic association. We report on female first cousins once removed who were born with unilateral coronal synostosis. One cousin also had peripheral pulmonic branch stenosis at birth and was later found to have ectopia lentis and severe myopia. The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence is normal. The inheritance is likely autosomal dominant with variable expression and incomplete penetrance and further defines this syndrome to include congenital heart defects. These findings will have important implications for genetic counseling. ( info)

10/56. Bilateral spontaneous subluxation of scleral-fixated intraocular lenses.

    Two young men with primary ectopic lenses had intracapsular cataract extraction and scleral fixation of posterior chamber intraocular lenses (PC IOLs) using 10-0 polypropylene sutures tied to the IOL eyelets. Three to 9 years after implantation, spontaneous IOL vertical subluxation occurred in all 4 eyes (5 IOL loops), probably because of suture breakage. Late subluxation of a sutured IOL may occur several years after implantation. Double fixation and thicker sutures should be considered, especially in young patients. ( info)
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