Clinical and genetic findings in Chinese families with congenital ectopia lentis.

BACKGROUND: Congenital ectopia lentis (EL) refers to the congenital dysplasia or weakness of the lens suspensory ligament, resulting in an abnormal position of the crystalline lens, which can appear as isolated EL or as an ocular manifestation of a syndrome, such as the Marfan syndrome. The fibrillin-1 protein encoded by the FBN1 gene is an essential component of the lens zonules. Mutations in FBN1 are the leading causes of congenital EL and Marfan syndrome. Owing to the complexity and individual heterogeneity of FBN1 gene mutations, the correlation between FBN1 mutation characteristics and various clinical phenotypes remains unclear. METHODS: This study describes the clinical characteristics and identifies possible causative genes in eight families with Marfan syndrome or isolated EL using Sanger and whole-exome sequencing. RESULTS: Eight FBN1 mutations were identified in these families, of which three (c.5065G > C, c.1600 T > A, and c.2210G > C) are reported for the first time. Based on in silico analyses, we hypothesized that these mutations may be pathogenic by affecting the fibrillin-1 protein structure and function. CONCLUSION: These findings expand the number of known mutations involved in EL and provide a reference for the research on their genotype and phenotype associations.

Ocular manifestations in classic homocystinuria.

BACKGROUND: Classic homocystinuria (HCU), or cystathionine beta-synthase (CBS) deficiency, is a rare inborn error of methionine metabolism. Main clinical features may include skeletal and vascular manifestations, developmental delay, intellectual disability and eye disorders. MATERIAL AND METHODS: This is an observational and retrospective study aiming at describing eye abnormalities presented by a cohort of late-diagnosed HCU patients. Data regarding ophthalmological evaluation included visual acuity, refraction, biomicroscopy, Perkins tonometry, fundus examination, retinography, biometry, ocular ultrasound, optical coherence tomography, anterior segment photography and topography. RESULTS: Ten patients with HCU (20 eyes) were included. The most frequent findings were ectopia lentis(n = 20) and myopia (n = 9). Biometry, ultrasound, OCT and topography findings were available for four patients. One patient had keratoconus; one had abnormal retinal pigmentation; and two had lens surgery scars with irregular astigmatism. CONCLUSIONS: Eye abnormalities are very frequent in late-diagnosed HCU patients. The presence of ectopia lentis should always raise the diagnostic hypothesis of HCU.

Ectopia lentis in Loeys-Dietz syndrome type 4.

Loeys-Dietz syndrome is a heritable disorder of the connective tissue leading to multisystem involvement including craniofacial features, skeletal abnormalities, cutaneous findings and early-onset and aggressive disease of the aorta and its branches. There are multiple types of Loeys-Dietz syndrome related to pathogenic variants in TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3. Individuals with Loeys-Dietz syndrome may be misdiagnosed as having Marfan syndrome due to shared phenotypic features and aortic root dilation. However, ectopia lentis has been an important discriminating feature, being unique to Marfan syndrome and not reported to be associated with Loeys-Dietz syndrome. We report the case of a 46-year-old woman with Loeys-Dietz syndrome type 4 due to a pathogenic variant in TGFB2 who was diagnosed with ectopia lentis at age 44. The patient underwent whole exome sequencing and no other pathogenic variants were found to explain the ectopia lentis. Our findings indicate that ectopia lentis may be an uncommon finding in Loeys-Dietz syndrome type 4 and emphasize the importance of genetic testing in familial thoracic aortic aneurysm disease.

Histologic differences between the ascending and descending aortas in young adults with fibrillin-1 mutations.

OBJECTIVES: This study aimed to review the clinical results of young adult patients with aortic disease associated with mutations in the fibrillin-1 gene (FBN1) and disclose the histologic differences between the ascending and descending aortas. METHODS: Between 2012 and 2015, 94 patients aged less than 50 years underwent surgery for thoracic aortic diseases. Forty-two patients (44.7%) had FBN-1 mutations. Of these, 40 patients (42.5%) with surgical specimens for histologic evaluation were included in the study. With the histologic results including the specimen sampled at their previous operations, cystic medial necrosis was classified into 3 grades according to the degree of the cystic area. RESULTS: Thirty-nine patients (97.5%) had aortic root dilatation (Z ≥2), and 13 patients (32.5%) had ectopia lentis. Thirty-nine patients (97.5%) fulfilled the diagnostic criteria for Marfan syndrome. There were no in-hospital deaths. The majority (27/29: 93.1%) of the specimens of the ascending aorta revealed cystic medial necrosis pattern. With grade III being the most severe condition, these cases were classified into grade I (n = 2), grade II (n = 5), and grade III (n = 20). In contrast, only 6 specimens (6/17: 35.3%) of the descending aorta showed a cystic medial necrosis pattern that was classified into grade I (n = 2) and grade III (n = 4), (P < .00001). CONCLUSIONS: Fewer specimens of the descending aorta revealed cystic medial necrosis compared with those of the ascending aorta. This difference might influence the characteristic aortic disease in Marfan syndrome associated with FBN-1 mutations.

Expression of transforming growth factor ß and matrix metalloproteinases in the aqueous humor of patients with congenital ectopia lentis.

It is well known that transforming growth factor ß (TGFß), which is able to stimulate multiple intracellular signaling pathways, exerts an important role in Marfan syndrome, although the effects of TGFß on congenital ectopia lentis (CEL) have yet to be fully elucidated. In the present study, the expression levels of TGFß and matrix metalloproteinases (MMPs) were investigated in the aqueous humor of patients with ectopic lentis who differed in terms of the severity of the disease. A total of 17 CEL patients with 21 eyes (aged 12.76±9.37 years) and 12 congenital cataract (CC) patients with 17 eyes (aged 6.82±9.18 years) were randomized in the present study. The levels of active TGFß and MMPs in the aqueous humor were analyzed with Luminex xMAP® technology by using commercially available Bio­Plex Pro™ Human MMP and TGFß assays. The distance from the lens edge to the pupil edge and the white to white corneal diameter (i.e. the horizontal distance between the borders of the corneal limbus) were measured, and the ratio was calculated as the degree of lens dislocation. The association between TGFß and MMP levels and the degree of lens dislocation was analyzed using Spearman's correlation test. Compared with the patients with CC, the level of TGFß2 in the patients with CEL was increased significantly. Specifically, the level of TGFß2 in the CEL patients was 855.19 pg/ml (744.33, 1,009.24), whereas it was 557.08 (438.24, 692.71) pg/ml in the CC patients (P<0.001). In addition, it was noted that the levels of MMP­2 and ­10 in the aqueous humor of the patients with CEL were higher compared with those in the CC patients, although this increase did not reach the level of statistical significance. Notably, the levels of MMP­8 and ­9 in the aqueous humor of patients with CEL were significantly lower compared with those in the CC patients (P=0.014 and P=0.002, respectively). Furthermore, a marginal correlation was identified between the severity of ectopic lentis and the levels of TGFß2 in the aqueous humor (r2=0.379; P=0.003) of the patients with CEL. Taken together, these results demonstrated that a significant correlation existed between high levels of aqueous humor TGFß2 and the severity of ectopia lentis in patients with CEL. In addition, aqueous humor TGFß2 levels in the CEL patients were significantly higher compared with those in CC patients.

Latent TGF-ß binding protein-2 is essential for the development of ciliary zonule microfibrils.

Latent TGF-ß-binding protein-2 (LTBP-2) is an extracellular matrix protein associated with microfibrils. Homozygous mutations in LTBP2 have been found in humans with genetic eye diseases such as congenital glaucoma and microspherophakia, indicating a critical role of the protein in eye development, although the function of LTBP-2 in vivo has not been well understood. In this study, we explore the in vivo function of LTBP-2 by generating Ltbp2(-/-) mice. Ltbp2(-/-) mice survived to adulthood but developed lens luxation caused by compromised ciliary zonule formation without a typical phenotype related to glaucoma, suggesting that LTBP-2 deficiency primarily causes lens dislocation but not glaucoma. The suppression of LTBP2 expression in cultured human ciliary epithelial cells by siRNA disrupted the formation of the microfibril meshwork by the cells. Supplementation of recombinant LTBP-2 in culture medium not only rescued the microfibril meshwork formation in LTBP2-suppressed ciliary epithelial cells but also restored unfragmented and bundled ciliary zonules in Ltbp2(-/-) mouse eyes under organ culture. Although several reported human mutant LTBP-2 proteins retain normal domain structure and keep the fibrillin-1-binding site intact, none of these mutant proteins were secreted from their producing cells, suggesting secretion arrest occurred to the LTBP-2 mutants owing to conformational alteration. The findings of this study suggest that LTBP-2 is an essential component for the formation of microfibril bundles in ciliary zonules.

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.

Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.

PURPOSE: To describe a novel mutation in the fibrillin-1 (FBN1) gene in a large Pakistani family with autosomal dominant Marfan syndrome (MFS). METHODS: Blood samples were collected of 11 family members affected with Marfan syndrome, and DNA was isolated by phenol-extraction. The coding exons of FBN1 were analyzed by polymerase chain reaction (PCR) and direct sequencing. One hundred-thirty controls were screened for a mutation in the FBN1 gene that was identified in this family by restriction fragment length polymorphism (RFLP) analysis. RESULTS: A novel heterozygous missense mutation c.2368T>A; p.Cys790Ser was observed in exon 19. This mutation substitutes a highly conserved cysteine residue by serine in a calcium binding epidermal growth factor-like domain (cbEGF) of FBN1. This mutation was present in all affected members and absent from unaffected individuals of the family in addition to 130 healthy Pakistani controls. Interestingly all affected family members presented with ectopia lentis, myopia and glaucoma, but lacked the cardinal cardiovascular features of MFS. CONCLUSIONS: This is a first report of a mutation in FBN1 in MFS patients of Pakistani origin. The identification of a FBN1 mutation in this family confirms the diagnosis of MFS patients and expands the worldwide spectrum of FBN1 mutations.

A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.

PURPOSE: To identify the genetic defect in an autosomal dominant isolated ectopia lentis (EL) family. METHODS: Detailed family history and clinical data were collected from the family including sixteen patients with isolated EL. Blood samples of nine patients, one normal person and two unknown children's were collected. Genomic DNA was extracted from leukocytes of peripheral blood. Genotyping was performed by microsatellite markers and logarithm-of-odds (LOD) scores were calculated using the LINKAGE Programs. Mutation screening in the candidate gene, fibrillin-1 (FBN1), was performed by direct sequencing. RESULTS: Linkage to the FBN1 locus is verified. Mutation screening in FBN1 identified a C>T transition at nucleotide position c.2920. This nucleotide change results in the cysteine substitution for highly conserved arginine at codon 974 (p.R974C). This mutation is identified in all affected individuals but is not found in 50 control healthy people. CONCLUSIONS: A novel mutation of FBN1 results in an arginine to cysteine residue (p.R974C) substitution, which is responsible for the patients with isolated EL in this Chinese family.

Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.

PURPOSE: To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with ectopia lentis (EL) and to predict the structural and functional consequences of the mutation. METHODS: Patients and family members were given complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from leukocytes of venous blood of three affected and three unaffected individuals in the family, and 100 healthy controls. All 65 coding exons and their flanking intronic boundaries of FBN1 were amplified in the proband by polymerase chain reaction, followed by direct sequencing. The mutation identified in the proband was screened for in other family members and 100 healthy controls by direct sequencing. Protein conservation analysis was performed in seven species using an online ClustalW tool. Protein structure was modeled based on the Protein data bank and mutated in PyMOL 1.1r1 to predict the structural and functional consequences of the mutation. RESULTS: A heterozygous c.2262A>G change in exon 18 of FBN1 was detected in the proband, which resulted in the substitution of tyrosine by cysteine at codon 754 (p.Y754C). This mutation was also present in the affected family members, but absent in other unaffected family members and 100 healthy controls. The mutant residue, located in the calcium binding epidermal growth factor-like7 domain, was highly conserved among mammalian species. The mutation could probably affect the disulfide bond formation of the domain and calcium binding of the adjacent domain, which would induce a critical functional change of the domain itself and neighboring domains. CONCLUSIONS: We indentified a p.Y754C mutation in FBN1, which is the causative mutation for EL in this family. This missense mutation introduced an additional cysteine residue by substitution of a highly conserved tyrosine residue within the cbEGF-like7 module.

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.

PURPOSE: To clinically and genetically characterize a distinct phenotype of congenital megalocornea (horizontal corneal diameter ≥13 mm) with secondary glaucoma from spherophakia and/or ectopia lentis during childhood in affected Saudi families. METHODS: Clinical exam, homozygosity scan, and candidate gene analysis. RESULTS: From 2005 to 2010, eight affected individuals from three consanguineous families were identified. In addition to congenital megalocornea, affected children presented with secondary glaucoma from spherophakia and/or ectopia lentis. One member from each family developed spontaneous complete crystalline lens dislocation into the anterior chamber with associated acute glaucoma during early childhood. Older individuals had phenotypes that would have suggested prior uncontrolled primary congenital/infantile glaucoma had past ophthalmic and/or family histories not been available. Homozygosity mapping performed for the first two families suggested the candidate gene latent transforming growth factor-beta-binding protein 2 (LTBP2), which when sequenced revealed a novel homozgyous mutation that segregated with the phenotype in each family (p.S338PfsX4 [c.1012delT], p.Q1619X[(c.4855C>T]). LTBP2 sequencing in the third family revealed a third novel homozygous mutation (p.C1438Y [c.4313G>A]). CONCLUSIONS: Congenital megalocornea with childhood secondary glaucoma from spherophakia and/or ectopia lentis is a distinct condition caused by recessive LTBP2 mutations that needs to be distinguished from buphthalmos secondary to primary congenital/infantile glaucoma because typical initial surgical treatment is lens removal in the former and angle surgery in the latter. Complete dislocation of the crystalline lens into the anterior chamber during early childhood can occur in young children with this unique phenotype.

Ectopia lentis as the presenting and primary feature in Marfan syndrome.

Marfan syndrome (MFS) is a multisystem connective tissue disorder with primary involvement of the ocular, cardiovascular, and skeletal systems. We report on eight patients, all presenting initially with bilateral ectopia lentis (EL) during early childhood. These individuals did not have systemic manifestations of MFS, and did not fulfill the revised Ghent diagnostic criteria. However, all patients had demonstratable, disease-causing missense mutations in the FBN1 gene. Based on molecular results, cardiovascular imaging was recommended and led to the identification of mild aortic root changes in seven of the eight patients. The remaining patient had mitral valve prolapse with a normal appearing thoracic aorta. The findings presented in this paper validate the necessity of FBN1 gene testing in all individuals presenting with isolated EL. As we observed, these individuals are at increased risk of cardiovascular complications. Furthermore, we also noted that the majority of our patient cohort's mutations occurred in the 5' portion of the FBN1 gene, and were found to affect highly conserved cysteine residues, which may indicate a possible genotype-phenotype correlation. We conclude that in patients with isolated features of EL, FBN1 mutation analysis is necessary to aid in providing prompt diagnosis, and to identify patients at risk for potentially life-threatening complications. Additionally, knowledge of the type and location of an FBN1 mutation may be useful in providing further clinical correlation regarding phenotypic progression and appropriate medical management.

The clinical spectrum of complete FBN1 allele deletions.

The most common mutations found in FBN1 are missense mutations (56%), mainly substituting or creating a cysteine in a cbEGF domain. Other mutations are frameshift, splice and nonsense mutations. There are only a few reports of patients with marfanoid features and a molecularly proven complete deletion of a FBN1 allele. We describe the clinical features of 10 patients with a complete FBN1 gene deletion. Seven patients fulfilled the Ghent criteria for Marfan syndrome (MFS). The other three patients were examined at a young age and did not (yet) present the full clinical picture of MFS yet. Ectopia lentis was present in at least two patients. Aortic root dilatation was present in 6 of the 10 patients. In three patients, the aortic root diameter was on the 95th percentile and in one patient, the diameter of the aortic root was normal, the cross-section, however, had a cloverleaf appearance. Two patients underwent aortic root surgery at a relatively young age (27 and 34 years). Mitral valve prolapse was present in 4 of the 10 patients, and billowing of the mitral valve in 1. All patients had facial and skeletal features of MFS. Two patients with a large deletion extending beyond the FBN1 gene had an extended phenotype. We conclude that complete loss of one FBN1 allele does not predict a mild phenotype, and these findings support the hypothesis that true haploinsufficiency can lead to the classical phenotype of Marfan syndrome.

Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis.

PURPOSE: To identify the genetic defect in a Chinese family with autosomal dominant inherited ectopia lentis. METHODS: twenty-one family members, including seven patients underwent general physical and fully ophthalmic examinations. Genomic DNA was extracted from leukocytes of venous blood of these individuals in the family. Polymerase chain reaction (PCR) amplification and direct sequencing of all 65 coding exons of the fibrillin-1 gene (FBN1) were analyzed. RESULTS: Mutation screening in FBN1 identified a T>C transition at nucleotide position c,1759 leading to substitution of Cysteine for Arginine at codon 587 (C587R). This nucleotide substitution was not seen in any unaffected member of the family. CONCLUSIONS: We detected a novel mutation in FBN1. Our result expands the mutation spectrum of FBN1 and help in the study of the molecular pathogenesis of Marfan syndrome and Marfan-related diseases.

Unique phenotype in a Chinese family pedigree: ectopia lentis with varicose great saphenous vein.

OBJECTIVE: To report a Chinese family affected with both ectopia lentis and varicose great saphenous vein. DESIGN: Observational pedigree report. PARTICIPANTS: The family with a total of 53 members in five generations. In the kindred there were 16 affected adults (including 6 deceased), of which 7 were male and 9 were female. MAIN OUTCOME MEASURES: Patients in this family showed an autosomal dominant trait of ectopia lentis and varicose great saphenous vein, occurring in four successive generations. The onset ages for lens dislocation were between 38 and 52 years. No cardiovascular abnormality was observed. Four patients underwent intracapsular lens extraction surgery. CONCLUSIONS: The phenotype of this family showed similarities with Marfan-related disorders. This is a unique phenotype of ectopia lentis with varicose great saphenous vein.

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.

Mutations in the FBN1 gene cause Marfan syndrome (MFS) and have been associated with a wide range of milder overlapping phenotypes. A proportion of patients carrying a FBN1 mutation does not meet diagnostic criteria for MFS, and are diagnosed with "other type I fibrillinopathy." In order to better describe this entity, we analyzed a subgroup of 146 out of 689 adult propositi with incomplete "clinical" international criteria (Ghent nosology) from a large collaborative international study including 1,009 propositi with a pathogenic FBN1 mutation. We focused on patients with only one major clinical criterion, [including isolated ectopia lentis (EL; 12 patients), isolated ascending aortic dilatation (17 patients), and isolated major skeletal manifestations (1 patient)] or with no major criterion but only minor criteria in 1 or more organ systems (16 patients). At least one component of the Ghent nosology, insufficient alone to make a minor criterion, was found in the majority of patients with isolated ascending aortic dilatation and isolated EL. In patients with isolated EL, missense mutations involving a cysteine were predominant, mutations in exons 24-32 were underrepresented, and no mutations leading to a premature truncation were found. Studies of recurrent mutations and affected family members of propositi with only one major clinical criterion argue for a clinical continuum between such phenotypes and classical MFS. Using strict definitions, we conclude that patients with FBN1 mutation and only one major clinical criterion or with only minor clinical criteria of one or more organ system do exist but represent only 5% of the adult cohort.

The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus.

Mutations in the fibrillin-1 (FBN1) gene have been identified in patients with Marfan syndrome (MFS) and Marfan-like connective tissue disorders. In this study, two Chinese families were recruited. The patients in family 1 were well characterized with MFS, while those in family 2 displayed Marfan-like disorders such as ectopia lentis (EL) and marfanoid habitus, but did not develop cardiovascular diseases. We aimed to analyze the pathogenic mutations and their relationships with phenotypes in these two Chinese families. All participants underwent complete physical, ophthalmic, and cardiovascular examinations. The 65 exons and flanking intronic sequences of FBN1 were amplified by polymerase chain reaction, and screened for mutations by denaturing high-performance liquid chromatography and sequencing. One hundred and fifteen unrelated controls were analyzed using the same methods to confirm the mutations. In family 1, we identified the mutation p.C499S in the calcium-binding epidermal growth factor (cbEGF)-like domain 3 of FBN1. In family 2, the mutation p.C908Y was identified in an interdomain region of the hybrid motif 2 linked to the cbEGF-like domain 10. It can be concluded that FBN1 mutations involving cysteine substitutions are usually associated with MFS and EL with some MFS features. Moreover, pathology seemed more serious when the mutations disrupted the three disulfide bridges in the cbEGF-like domains, which was more likely to cause typical MFS than if the mutations occurred in the hybrid motifs. Our data preliminarily establish a genotype-phenotype correlation in the diagnostic process of MFS and predominant EL with Marfan-like features.

Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.

PURPOSE: To identify mutations in the fibrillin-1 gene (FBN1) and provide further information about genotype-phenotype correlations in Chinese patients with predominant ectopia lentis (EL) and marfanoid habitus. METHODS: Patients from seven Chinese families underwent complete physical, ophthalmic, and cardiovascular examination. Genomic DNA was extracted from leukocytes of peripheral blood from the patients. The 65 exons and flanking intronic sequences of FBN1 were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing. RESULTS: Three novel mutations, c.203G>T in exon 2, c.502T>C in exon 5, and c.2096G>C in exon 16 as well as four known mutations, c.364C>T in exon 4, c.1633C>T in exon 13, c.1879C>T in exon 15, and c.4588C>T in exon37, were identified in FBN1. CONCLUSIONS: We identified three novel mutations and four known mutations in FBN1 and found cysteine substitution highly related to EL. These results expand the mutation spectrum in FBN1 and enrich our knowledge of genotype-phenotype correlations due to FBN1 mutations. To our knowledge, this is the first report of cysteine residue loss in the unique NH2-terminal domain of fibrillin-1.

[Variation of visual acuity in young patients with ectopia lentis submitted to surgery]. / Variação da acuidade visual em pacientes jovens com ectopia lentis submetidos à cirurgia.

PURPOSE: To assess the results as to visual acuity of two different surgical procedures for ectopia lentis. METHODS: Fifty-one eyes of 28 patients (16 males and 12 females, mean age 16.00 +/- 8.5) with simple (19 cases) or Marfan syndrome-associated (9 cases) ectopia lentis with different levels of subluxation underwent lens extraction with implantation of intraocular lenses (IOL) with scleral fixation (21 cases) or by lens extraction with implantation of the intraocular lenses in the capsular bag expanded by endocapsular ring (RING) (30 cases). Result analysis emphasized pre- and postoperative visual acuity during a six-month follow-up. RESULTS: Both techniques showed significant increase of postoperative visual acuity with and without correction, but it was better among the cases operated on by scleral fixation of the intraocular lenses. More than the used technique, the preoperative subluxation grades were crucial as to the results. CONCLUSION: The two surgical techniques for correction of simple or Marfan syndrome-associated ectopia lentis are safe and effective, resulting in significant recovery of visual acuity, although surgical results are completely dependent on the preoperative lens subluxation grades.

Variação da acuidade visual em pacientes jovens com ectopia lentis submetidos à cirurgia / Variation of visual acuity in young patients with ectopia lentis submitted to surgery

OBJETIVOS:Avaliar os resultados quanto à acuidade visual, de dois procedimentos cirúrgicos para a ectopia lentis. MÉTODOS: Foram operados 51 olhos de 28 pacientes (16 do sexo masculino e 12 do feminino, com média de idade de 16,00±8,5 anos) com ectopia lentis simples (19 casos), ou associada à síndrome de Marfan (nove casos), com diferentes graus de subluxação cristaliniana. Em 21 casos a técnica empregada foi a facectomia com implante de lente intra-ocular (LIO) por fixação escleral e em 30 casos foi utilizada a facectomia com implante da lente intra-ocular no saco capsular, previamente expandido por anel endocapsular (ANEL). Os resultados enfatizaram a acuidade visual pré e pós-operatória em seguimento de seis meses. RESULTADOS:Em ambas as técnicas, a acuidade visual pós-operatória sem e com correção teve aumento significante, que foi maior nos casos operados com fixação escleral da lente intra-ocular. Mais do que a técnica empregada, os graus de subluxação pré-operatórios foram determinantes para os resultados. CONCLUSÕES: Mediante as técnicas operatórias apresentadas, a correção cirúrgica da ectopia lentis simples ou associada à síndrome de Marfan é segura e eficaz, com recuperação significante da acuidade visual, embora os resultados operatórios dependam, intrinsecamente, dos graus pré-operatórios de subluxação do cristalino.