Spontaneous anterior dislocation of lens in a case of ectopia lentis et pupillae: a rare entity treated by a novel technique of microscope integrated optical coherence tomography (MIOCT) guided intralenticular lens aspiration.

A 7-year-old girl presented with watering and redness in the left eye for 2 months. Her parents reported poor vision in both eyes for 4 years. Visual acuity was finger counting at 1 m and finger counting close to face in the right and left eyes, respectively. Slit lamp examination of the right eye revealed corectopia, aphakia in the pupillary area, temporally subluxated clear crystalline lens, persistent pupillary membrane, irido-hyaloidal adhesion and poorly dilating pupil. Left eye revealed central corneal oedema with descemet scarring, anteriorly dislocated clear crystalline lens with lenticulo-corneal touch. Ultrasound examination of the left eye was normal. Hence a diagnosis of ectopia lentis et pupillae with left eye spontaneous anterior dislocation of the lens along with corneal decompensation was made. The child underwent microscope integrated intraoperative optical coherence tomography guided intralenticular lens aspiration with optical iridectomy in the left eye. Postoperative visual rehabilitation was done with aphakic glasses.

Trauma-Induced Bilateral Ectopia Lentis Diagnosed with Point-of-Care Ultrasound.

BACKGROUND: Ocular trauma and acute loss of vision are high-yield patient presentations that may benefit from the use of bedside ultrasound to aid in the diagnosis of a variety of vision-threatening problems. CASE REPORT: We present a case of bilateral lens dislocation in which the diagnosis of lens dislocation was missed on initial computed tomography of the orbits but detected on bedside ultrasound. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Point-of-care ultrasound can rapidly identify ocular pathology and expedite specialist consultation, and if necessary, transfer to a specialty center for further management.

Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.

PURPOSE: To identify genetic defects in a Chinese family with ectopia lentis (EL) and varicose great saphenous vein (GSV) and to analyze the correlations between phenotype and genotype. METHODS: Twenty-two (12 affected subjects and ten unaffected subjects) among 53 members of a Chinese family underwent complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from the leukocytes in the subjects' peripheral blood. A minimum interval was achieved with linkage study and haplotype analysis. All 65 exons and the flanking intronic regions of fibrillin-1 (FBN1) were amplified with PCR and screened for mutations with direct Sanger sequencing. Molecular modeling was analyzed in an in silico study. RESULTS: The linkage study showed a strong cosegregation signal on chromosome 15. The non-parametric linkage analysis yielded a maximum score of 29.1(p<0.00001), and the parametric logarithm of the odds (LOD) score was 3.6. The minimum interval of the shared haplotype was rs1565863-rs877228. The best candidate gene in this region was FBN1. A novel mutation, c.3928G>A, p.1310G>S in exon 31, was identified in FBN1 and cosegregated well in the family. We applied molecular modeling to show the effect of this mutation on the fibrillin-1 structure. The mutation significantly distorts the calcium coordination, decreases the binding of the calcium ion in that motif, and affects the local calcium-binding epidermal growth factor (cbEGF) interface that depends on Ca binding. CONCLUSIONS: FBN1-associated fibrillinopathies are a group of diseases with dynamic phenotype changes. Novel mutation p.1310G>S was first reported to cause Marfan syndrome (MFS). Our results expand the mutation spectrum in FBN1 and enhance our knowledge of genotype-phenotype correlations underlying FBN1 mutations.

Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1).

PURPOSE: The purpose of this paper is to describe ophthalmic findings in a family with isolated ectopia lentis (EL) caused by a specific FBN1 mutation. METHODS: Detailed family histories and clinical data were recorded for six isolated EL patients of 11 family members. The ophthalmological and systematic examinations were performed on patients and unaffected members of the investigated family. The detailed ocular examinations included visual acuity, anterior chamber depth, pupil size, lens location, optometry, central corneal thickness, keratometry, slitlamp examination, fundus examination, axial length, ocular B-ultrasound, gonioscope checking, ultrasound biomicroscopy (UBM) and intraocular pressure (IOP; Goldmann applanation tonometer). Systematic examinations included the measurement of echocardiogram, height, arm span, skull, face, jaw, tooth, breast bone, spinal column, and skin. Genomic DNA was extracted using the phenol-chloroform extraction method for all subjects, and sequencing was carried out on an ABI Prism 3730 Genetic Analyzer. RESULTS: A heterozygous mutation, c.184C>T (p.Arg62Cys) in exon 2 of FBN1 was identified in all affected members but was not found in any unaffected member of the family. Our study presented detailed clinical manifestations, including some novel ophthalmic findings, such as pupillary abnormality, different types of glaucoma, and progressive hyperopia. CONCLUSIONS: Ophthalmic findings and the p.Arg62Cys mutation of FBN1 gene were reported in a family with early-onset isolated ectopia lentis.

Management of bilateral ectopia lentis et pupillae syndrome.

A 52-year-old patient presented with signs clinically consistent with ectopia lentis et pupillae syndrome. The patient was treated successfully with vitrectomy, dislocated lens removal using perfluorocarbon liquid and phacofragmentation in the vitreous cavity, pupil reconstruction, and scleral-fixated intraocular lens implantation in both eyes. Despite the fact that the surgery was successful in technical terms, the final visual outcome was not as good as expected. This was caused by the optic nerve atrophy resulting from long-lasting glaucoma. Nevertheless, the described surgical techniques may be considered an effective method of treatment in cases of ectopia lentis et pupillae syndrome.

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.

Ectopia lentis et pupillae. A hypothesis revisited.

BACKGROUND: Ectopia lentis et pupillae (ELeP) is a rare congenital inherited disorder characterized by lenticular and pupillary ectopia. Recent speculation on its pathogenesis is based on clinical observation and includes a neuroectodermal defect or persistence of fetal vasculature. None of these reports included histopathology or imaging studies. STUDY DESIGN: Case report and literature review. INTERVENTION: The authors examined a 55-year-old woman with ELeP using 10-MHz and 50-MHz ultrasonography to demonstrate the structural abnormalities present. Five patients (eight eyes) who had undergone cataract extraction without lens implantation were also examined. RESULTS: In the patient with ELeP, the right pupil was displaced inferiorly and the left temporally. An ultrasound scan at 10 MHz showed both lenses lying inferiorly in the vitreous. An ultrasound scan at 50 MHz allowed detailed examination of the anterior segment, including the iris and ciliary body, and showed two main features in each eye, including a lack of definition of ciliary processes, except in that quadrant toward which the pupil was displaced, and a membrane-like structure extending forward and attaching to the proximal pupil margin. The membrane passed over the tips of the ciliary processes to a more posterior origin. CONCLUSIONS: The only histologic reports of this condition are from the beginning of this century in the German literature. Ultrasonography at 50 MHz allows high-resolution in vivo imaging of anterior structures that are not clinically visible. The authors' findings in this case of ELeP are sufficiently different from those of non-ELeP-related aphakia to suggest that they are not solely due to aphakia. Furthermore, the authors' findings are very similar to the only histologic reports suggesting that the pupillary and lenticular ectopia results from mechanical tethering of the pupil with zonular disruption. This hypothesis has not been discussed in the recent literature.