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PubMedDate not supplied

Ectopia lentis.

Ectopia lentis was first described more than 200 years ago, but its value as a significant diagnostic clue to the presence of other ocular and systemic disorders has only recently been appreciated. Ectopia lentis may cause a marked reduction in visual acuity, which varies with the type and degree of dislocation and the presence of other ocular abnormalities. An approach to the diagnostic evaluation of the patient with ectopia lentis is outlined. The differential diagnosis is reviewed in detail both clinically and histologically. The complications of ectopia lentis and the appropriate management of affected patients are discussed.

Adolescent↗
PubMed1985

Aphakic correction in ectopia lentis.

Ectopia lentis may cause a reduction in visual acuity, which varies with the type and degree of dislocation and the presence of other ocular abnormalities. Retinoscopy may reveal a significant refractive error, usually myopia and astigmatism. Occasionally, an accurate refraction may be difficult because of tilting or dislocation of the lens. If aphakic refraction improves visual acuity, an aphakic correction should be considered.

Aphakia↗
PubMed1994

A novel mutation of the fibrillin gene causing ectopia lentis.

Ectopia lentis (EL), a dominantly inherited connective tissue disorder, has been genetically linked to the fibrillin gene on chromosome 15 (FBN1) in earlier studies. Here, we report the first EL mutation in the FBN1 gene confirming that EL is caused by mutations of this gene. So far, several mutations in the FBN1 gene have been reported in patients with Marfan syndrome (MFS). EL and MFS are clinically related but distinct conditions with typical manifestations in the ocular and skeletal systems, the fundamental difference between them being the absence of cardiovascular involvement in EL. We report a point mutation, cosegregating with the disease in the described family, that displays EL over four generations. The mutation changes a conserved glutamic acid residue in an EGF-like motif, which is the major structural component of the fibrillin and is repeated throughout the polypeptide. In vitro mutagenetic studies have demonstrated the necessity of an analogous glutamic acid residue for calcium binding in an EGF-like repeat of human factor IX. This provides a possible explanation for the role of this mutation in the disease pathogenesis.

Amino Acid Sequence↗
PubMed1991

Hereditary ectopia lentis. A series of 10 cases of ectopia lentis et pupillae.

Ectopia lentis may belong to different syndromes, Marfan syndrome and homocystinuria being the most common. Hereditary ectopia lentis may also be an isolated ocular condition. Inheritance of simple ectopia lentis is autosomal dominant (AD) or autosomal recessive (AR). In ectopia lentis et pupillae the pupils are characteristically oval and slit shaped. Inheritance is AR. We will present our series of 10 cases.

Chromosome Aberrations↗
PubMed2001

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.

Child, Preschool↗
PubMed1999

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.

Abnormalities, Multiple↗
PubMed1995

Ectopia lentis et pupillae syndrome in three generations.

In nine members from three generations and in a distant relative, at least three significant characteristics of the ectopia lentis et pupillae syndrome were established including ectopia lentis, ectopia pupillae, persistent pupillary membrane, iris transillumination, and poor pupillary dilatation. All patients developed bilateral cataract before the age of 40 years, and two patients presented with intermittent acute intraocular hypertensive crises. Not only the high number of patients in one family, but also the occurrence in three generations is very exceptional for the ectopia lentis et pupillae syndrome. Although the syndrome is said to be inherited in an autosomal recessive mode, in this family, a mother to son and a mother to daughter transmission were present. Pedigree analysis yielded arguments in favour of an autosomal dominant inheritance with reduced penetrance. A biochemical correlation was not identified.

Adult↗
PubMedDate not supplied

Familial simple ectopia lentis: a case study.

Hereditary simple ectopia lentis affected nine patients in three generations of a family. Inheritance appeared to be autosomal dominant. Examination of 12 family members, employing body proportion measurements, chest x-ray, echocardiogram, and urinary cystine or blood methionine levels, revealed no evidence of any systemic disease. In all cases except two, lenses were bilaterally and superiorly dislocated. The degree of dislocation varied considerably among those affected, causing no visual disturbance in some and severely limiting visual acuity in others. Visual deficits were greatest in patients with intermediate degrees of dislocation. To date, the only known complications related to the dislocations have been two cases of bilateral cataracts. The indications for lensectomy in patients with ectopia lentis are reviewed.

Ectopia Lentis↗
PubMed2002

Evaluation of surgical intervention in familial isolated simple ectopia lentis: younger v. older generations.

BACKGROUND: There continues to be a debate whether surgical management of ectopia lentis in children is an appropriate course to improve visual acuity and prevent further amblyopia over medical and optical management. The long term outcome and postoperative status of three generations of patients in a single family with simple ectopia lentis is presented. SUBJECTS: Nine family members (ages 6-61 years) were evaluated at Children's Hospital of Michigan (CHM) (6 patients) and Kresge Eye Institute (KEI) (3 patients) for primary or secondary visual acuity problems and a family history of simple bilateral ectopia lentis without any systemic manifestations. RESULTS: Three of the four children with ectopia lentis had improved postoperative vision OU and one child was moderately amblyopic following lensectomy with 6 years followup. Of the older generation, one of the three adults had removal of dislocated lenses, with 20/50 amblyopia in one eye and 20/25 vision in the other. The other two adults were treated for end stage glaucoma with poor visual acuity. CONCLUSIONS: For the younger generations of this family, surgical intervention for simple ectopia lentis provided improvement in visual acuity. Without surgery, amblyopia may have occurred in one or both eyes. For the oldest generation of this family, glaucoma and poor vision was the end result. Hopefully, the earlier treatment of the ectopia lentis in these children will result in better vision now and in the long term.

Adolescent↗
PubMed1976

Ectopia lentis et pupillae.

Two brothers had ectopia lentis et pupillae, an autosomal recessive disorder. Ascertainment of the brothers occurred through an unaffected sister, who sought genetic advice concerning possible risk for the disorder in her future children. Although the clinical features and the genetic aspects of ectopia lentis et pupillae are well documented in the older ophthalmologic literature, this entity has received relatively little attention recently in major reference texts.

Adolescent↗
PubMed1977

Iris transillumination and variable expression in ectopia lentis et pupillae.

Six children in three families showed variations of the rare genetic syndrome, ectopia lentis et pupillae. The siblings in two affected families demonstrated intermingling of simple lens ectopia with ectopia lentis et pupillae, suggesting that some types of simple ectopia lentis represent an incompletely expressed form of the full ectopia lentis et pupillae syndrome. Those patients with simple lens ectopia as well as those with ectopic lenses and pupils had striking transillumination of the iris periphery. Microphakia, cataract, and other anterior segment abnormalities were also observed.

Child↗
PubMed1998

Congenital ectopia lentis. A Danish national survey.

PURPOSE: To elucidate demographic and nosologic characteristics of congenital ectopia lentis (ECL) in Denmark. METHODS: A register of affected persons was established based on information provided from medical records and files in a nation-wide retrospective study, the Danish ECL-study. RESULTS: Three hundred and ninety-six cases (197 males, 199 females) with ECL were included in the study. By January 1st, 1993, the estimated prevalence rate of ECL was 6.4/100,000. The estimated average point prevalence rate at birth 1976-85 was 0.83/10,000 live born. Only in 69% of the cases (274/396) was a nosologic classification possible, based on preexisting information about familial occurrence, systemic and ocular findings: Marfan syndrome was found in 68.2% of these (187/274), ectopia lentis et pupillae in 21.2%, simple dominant ectopia lentis in 8.0%, homocystinuria in 1.1%, sulfite oxidase deficiency and Weill-Marchesani syndrome in 0.7% each. In the remaining 31% (122/396) a nosologic diagnosis could not be established. CONCLUSION: The majority of affected persons have congenital ectopia lentis as a manifestation of a systemic disease. It is therefore essential to evaluate ECL patients systemically with a general physical examination, a metabolic screening, and an echocardiography as a minimum, in order to make a nosologic diagnosis and to prevent potentially life-threatening systemic complications.

Adolescent↗
PubMed1994

Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1.

Simple ectopia lentis (EL) was studied in a large family, by clinical examination and analysis of linkage to markers in the region of FBN1, the gene for fibrillin which causes Marfan syndrome on chromosome 15. No patient had clinical or echocardiographic evidence of Marfan syndrome, although there was a trend towards relatively longer measurements of height; lower segment; arm span; middle finger, hand, and foot length in the affected members of the family, compared with unaffected sibs of the same sex. Analysis of linkage to intragenic FBN1 markers was inconclusive because they were relatively uniformative. Construction of a multipoint background map from the CEPH reference families identified microsatellite markers linked closely to FBN1 which could demonstrate linkage of EL in this family to the FBN1 region. LINKMAP analysis detected a multipoint lod score of 5.68 at D15S119, a marker approximately 6 cM distal to FBN1, and a multipoint lod score of 5.04 at FBN1. The EL gene in this family is likely to be allelic to Marfan syndrome, and molecular characterization of the FBN1 mutation should now be possible.

Adolescent↗
PubMed1992

Oxycephaly, bilateral ectopia lentis, and retinal detachment.

We report the case of a man with oxycephaly, bilateral ectopia lentis, and total retinal detachment in one eye. Although the association of retinal detachment with ectopia lentis is well known, this is the first report to our knowledge of a craniosynostosis, specifically oxycephaly, being associated with ectopia lentis and retinal detachment.

Adult↗
PubMedDate not supplied

Laser interferometric prediction of postoperative visual acuity in patients with genetic ectopia lentis.

PURPOSE: To compare preoperative laser interference visual acuity (LIVA) with postoperative Snellen visual acuity (SVA), and to evaluate clinical significance using laser interferometer in patients with genetic ectopia lentis. METHODS: We treated a series of 18 patients (34 eyes) with genetic ectopia lentis whose visual acuity did not improve with optical phakic or aphakic correction, or with modern microsurgery and automated suction-cutting devices. Laser interferometry and electroretinogram (ERG) were used for the examination of retinal function before surgery. RESULTS: There was not significant difference between the interferometric acuity before operation and the corrected visual acuity after operation (p > 0.05), and the coincidence rate between them was 80% (27 eyes). ERG examination showed normal function in most of the patients. CONCLUSIONS: The results showed that the laser interferometric acuity is a valuable method in evaluation of postoperative visual acuity in patients with ectopia lentis. In six eyes, the LIVA was lower than the initial corrected vision postoperatively, but ERG examination showed that the retinal function was normal in these patients. Therefore, in patients with genetic ectopia lentis, LIVA combined with ERG predicts visual acuity more accurately.

Adolescent↗
PubMed1990

Limbal lensectomy in the management of ectopia lentis in children.

Surgical treatment of ectopia lentis has traditionally been associated with a poor visual outcome and a high complication rate. We treated a series of nine children (15 eyes) whose visual acuity could not be improved with optimal optical phakic or aphakic correction with limbal lensectomy. Preoperative visual acuity after amblyopia treatment ranged from 20/60 to 20/200. Improvement in postoperative visual acuity was documented in all operated-on eyes, ranging from 20/20 to 20/50 during a follow-up period ranging from 8 months to 118 months (median, 33 months). The only complication was a child who developed a secondary membrane requiring a neodymium-YAG capsulotomy.

Child↗
PubMed1979

Ectopia lentis et pupillae.

Two brothers whose parents were second cousins had ectopia lentis et pupillae. This autosomal recessive disorder is distinguished from other disorders with ectopia lentis by the limitation of abnormalities to the bilateral displacement of lens and pupil.

Child↗
PubMed1979

Isolated congenital ectopia lentis with autosomal dominant inheritance.

Although autosomal dominant inheritance of isolated ectopia lentis has been described, the literature contains old and unclear reports concerning the evaluation of skeletal or metabolic abnormalities. We report a family in which congenital isolated ectopia lentis occurs in five members of two generations in a pattern consistent with autosomal dominant inheritance.

Adult↗