La ectopia lentis y las soluciones quirúrgicas en la cirugía de catarata / Ectopia lentis and surgical solutions in cataract surgery

RESUMEN La extracción del cristalino en pacientes con ectopia lentis se convierte en una cirugía desafiante para el cirujano. En el pasado surgieron serias complicaciones asociadas a esta intervención quirúrgica, como desprendimiento de retina y glaucoma. El avance de las técnicas quirúrgicas en las últimas décadas ha brindado mayor seguridad para la cirugía de esta afección del cristalino. Se presenta una paciente femenina de 47 años aquejada de disminución de la visión. Al examen oftalmológico se encuentra subluxación superior del cristalino bilateral. Previa discusión con la paciente de los posibles escenarios a presentarse durante la cirugía, se le sugiere una facoemulsificación bilateral secuencial del cristalino conservando el saco capsular mediante la colocación de un anillo de tensión capsular fijado a la esclera más implante de lente intraocular plegable en el saco capsular. Se realiza primeramente cirugía del ojo izquierdo y se presenta un desgarro radial de la rexis con extensión posterior, por lo que se varía el abordaje quirúrgico y se fija el implante al iris. Un mes después se realiza cirugía del ojo derecho siguiendo el plan quirúrgico inicial sin complicaciones. La recuperación visual fue satisfactoria (0,7 en cartilla de Snellen) en ambos ojos y se demostró la efectividad de ambas alternativas quirúrgicas. La planificación correcta de la técnica quirúrgica y de las posibles modificaciones ante circunstancias sobrevenidas, así como la oportuna información preoperatoria y la experiencia del cirujano resultan fundamentales para alcanzar el éxito quirúrgico, la recuperación funcional y la satisfacción del paciente(AU)

ABSTRACT Crystalline lens removal in patients with ectopia lentis is a challenge for eye surgeons. Serious complications, such as retinal detachment and glaucoma, were associated in the past to this surgical procedure. However, the progress in surgical techniques achieved in recent decades provides greater safety in the surgical treatment of this lens disorder. A female 47-year-old patient attends consultation complaining of vision reduction. Ophthalmological examination reveals bilateral crystalline lens upper subluxation. The possible scenarios to occur during surgery are discussed with the patient, and it is suggested that she undergoes sequential bilateral lens phacoemulsification preserving the capsular bag with the placement of a capsular tension ring fixed to the sclera plus implantation of a foldable intraocular lens in the capsular bag. The first eye to be operated on is the left eye, and radial tear of the rhexis with posterior extension occurs. Therefore, the surgical approach is changed and the implant is fixed to the iris. Surgery of the right eye is performed one month later, following the initial surgical plan without any complications. Visual recovery was satisfactory (0.7 by the Snellen chart) in both eyes, proving the effectiveness of both surgical alternatives. Correct planning of the surgical technique and its possible modifications in response to unexpected circumstances, alongside timely preoperative information and the surgeon's experience, are all crucial to achieve surgical success, functional recovery and patient satisfaction(AU)

Bilateral clear lens extraction and intraocular lens implantation in a child with microspherophakia and Marfan syndrome / Extração bilateral de cristalino transparente e implante de lente intraocular em criança com microesferofacia e síndrome de Marfan

ABSTRACT We report the case of a 4-year-old boy with Marfan syndrome whose parents reported he had had low visual acuity since birth. On examination, there was microspherophakia and a small subluxation of the lens. The objective refraction was -23.75 - 2.75 x 70 in the right eye and -25.50 -3.50 x 90 in the left eye. Since the microspherophakia and the high myopia severely affected the boy's quality of life, clear lens extraction, anterior vitrectomy, posterior surgical capsulotomy via the pars plana, and intraocular lens implantation were performed. Two years postoperatively, the patient had centered intraocular lenses and a corrected visual acuity of 20/30 in both eyes. The child was satisfied with his vision and was able to study and perform daily activities without visual limitations.

RESUMO Reportamos o caso de um menino de 4 anos de idade com Síndrome de Marfan, cujos pais referiam que o mesmo apresentava baixa acuidade visual desde o nascimento. Ao exame oftalmológico, observou-se microesferofacia e discreta subluxação do cristalino bilateralmente. A refração estática era -23.75 - 2.75 x 70 no olho direito e -25.50 -3.50 x 90 no olho es querdo. Como a microesferofacia e a alta miopia traziam sérios prejuízos à qualidade de vida do paciente, foi submetido à facoemulsificação de cristalino transparente, vitrectomia anterior, capsulotomia posterior via pars plana e implante de lente intrao cular. Em seguimento pós-operatório de dois anos, mantinha lentes intraoculares centradas, eixo visual livre, acuidade visual corrigida de 20/30 em ambos os olhos. Paciente satisfeito com a visão podendo estudar e exercer todas as atividades do dia a dia sem limitações visuais.

Iris-claw intraocular lens implantation in children with ectopia lentis / Implante de lente intraocular de fixação iriana em crianças com ectopia lentis

ABSTRACT Purpose: Artisan iris-claw lens implantation (AICLI) is a surgical technique for treating ectopia lentis. We aimed to compare visual outcomes and possible long-term complications of AICLI surgery in pediatric patients with ectopia lentis with or without a diagnosable hereditary disease. Methods: Seventeen children with non-traumatic ectopia lentis were retros pectively classified into two groups: group 1 included children with a diagnosable hereditary disease (11 patients, 65%), and group 2 included children without any definable hereditary disease (six patients, 35%). Patients were evaluated for post-surgical refraction, best-corrected visual acuity, and clinical follow-up complications. Results: The average follow-up time was 38 months, and the average age of the patients was 103 ± 53 months (30-196 months). Best-corrected visual acuity values were significantly increased in both groups after surgery (p<0.05). Target refraction values were achieved at a rate of 47% in group 1 and 22% in group 2. Post-surgery complications, such as lens dislocation (36%, 11 eyes of 10 patients) and hypotonia (10%, three eyes of three patients) were observed in both groups, and retinal detachments (10%, three eyes of three patients) were observed in three patients from group 1. Conclusions: Compared with previous similar studies, this study utilized the largest pediatric patient group and had the longest post-surgery follow-up time. Moreover, it is advisable that pediatric patients with non-traumatic ectopia lentis be carefully screened for any underlying hereditary disease, especially diseases related to connective tissue metabolism.

RESUMO Objetivo: A implantação de lentes intraoculares de fixação iriana em garra (AICLI) é uma técnica cirúrgica para o tratamento de ectopia lentis. Nosso objetivo foi comparar resultados visuais e possíveis complicações em longo prazo da cirurgia de AICLI em pacientes pediátricos com ectopia lentis com ou sem doença hereditária diagnosticável. Métodos: Dezessete crianças com ectopia lentis não-traumática foram classificadas retrospectivamente em dois grupos: o grupo 1 com pacientes apresentando doença hereditária diagnosticável (11 pacientes, 65%) e o grupo 2 com pacientes sem qualquer doença hereditária definível (6 pacientes, 35%). Os pacientes foram avaliados quanto à sua refração pós-operatória, acuidade visual melhor corrigida e complicações. Resultados: O tempo médio de seguimento foi 38 meses. A média de idade dos pacientes foi de 103 ± 53 meses (30-196 meses). Os valores de acuidade visual me lhor corrigida aumentaram significativamente em ambos os grupos (p<0,05). Os valores de refração alvo foram alcançados a uma taxa de 47% no grupo 1 e 22% no grupo 2. Complicações pós-operatórias como luxação da lente (36%, 11 olhos de 10 pacientes) e hipotonia (10%, 3 olhos de 3 pacientes) foram observados nos dois grupos e foram observados descolamentos de retina (10%, 3 olhos de 3 pacientes) em 3 pacientes do grupo 1. Conclusões: Em comparação com relatos anteriores na literatura, este estudo utilizou um grupo maior de pacientes pediátricos e tempo de seguimento pós-operatório mais longo. É aconselhável que pacientes pediátricos com ectopia lentis não-traumática sejam cuidadosamente selecionados em relação a doença subjacente hereditária, especialmente as doenças relacionadas com o metabolismo do tecido conjuntivo.

Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea

Neonatal Marfan syndrome (nMFS) is considered to be on the most severe end of the spectrum of type I fibrillinopathies. The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled ear, loose skin, and pulmonary emphysema.We describe a newborn male diagnosed with nMFS. He presented several atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna. Molecular analysis revealed a missense mutation at nucleotide 3217 (c.3217G>A) in exon 26 of the fibrillin-1 (FBN1) gene, resulting in the substitution of a glutamate for a lysine at codon 1073 (E1073K) in the 12th calcium binding epidermal growth factor-like domain of the FBN1 protein. Here we report a rare case of Nmfs with several combined atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna. Our report is the first atypical nMFS case with p.Glu1073Lys mutation of FBN1 in Korea and may help clinicians with the diagnosis and follow-up of atypical nMFS.

Bilateral Simple Ectopia Lentis Associated with FBN1 Gene Mutation

PURPOSE: To report a case of bilateral simple ectopia lentis associated with FBN1 gene mutation. CASE SUMMARY: A 47-year-old women presented with a one-month history of ocular pain and decreased visual acuity of the right eye. She had a family history of crystalline lens dislocation but showed no systemic abnormality or trauma history. Intraocular pressure was 45 mmHg in the right eye, which showed a myopic shift (−6.5 D). The crystalline lens of the right eye was subluxated to the anterior chamber, and the angle was closed. Phacoemulsification with scleral fixation of the posterior chamber intraocular lens of the right eye was performed. After that, best corrected visual acuity of the right eye was 1.0, and intraocular pressure was 15 mmHg. After 2 years, she presented with intermittent ocular pain and decreased visual acuity of the left eye. The crystalline lens of the left eye was subluxated to the anterior chamber. Phacoemulsification with scleral fixation of the posterior chamber intraocular lens of the left eye was performed. After that, intermittent ocular pain and visual acuity of the left eye were improved. Genetic testing confirmed an FBN1 gene mutation in the patient. CONCLUSIONS: A bilateral ectopia lentis patient without history of definite trauma should undergo complete systemic and ophthalmic examination to rule out accompanying disease, and a detailed family history should be collected. If hereditary ectopia lentis is suspected, genetic testing of probands and their family should be performed and will be helpful for genetic counseling and ophthalmic surveillance.

Clinical Characteristics of Marfan Syndrome in Korea

BACKGROUND AND OBJECTIVES: Marfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance and a highly variable clinical spectrum. However, there are limited data available on the clinical features of Korean patients with MFS. The aim of the present study was to describe the clinical characteristics and outcomes of Korean patients with MFS. SUBJECTS AND METHODS: We included all patients who were diagnosed with MFS between January 1995 and May 2015 at a single tertiary medical center. Patients with an MFS-related disorder including MASS phenotype (myopia, mitral valve prolapse, borderline and non-progressive aortic root dilatation, skeletal findings, and striae), mitral valve prolapse syndrome, and ectopia lentis syndrome were excluded. A total of 343 Korean patients aged ≥15 years who satisfied the revised Ghent nosology were included. RESULTS: The mean patient age at diagnosis was 35.9±12.6 years and 172 (50.1%) patients were male. Median follow-up duration was 52.8 months. A total of 303 patients (88.6%) had aortic root dilatation with Z score ≥2 or aortic root dissection. Ectopia lentis was relatively less common (163 patients, 55.1%) and systemic score ≥7 was found in 217 patients (73.8%). Among 219 probands, a family history of MFS was present in 97 patients (44.5%) and sporadic cases in 121 patients (55.5%). Among the 157 probands who underwent genetic analysis, 141 (89.8%) had an FBN1 mutation associated with aortic root aneurysm/dissection. Aortic dissection (AD) or intramural hematoma (IMH) was identified in 110 patients (32.1%). Among the 221 patients without AD or IMH, descending aortic aneurysms were identified in 19 patients (8.6%). Two hundred thirteen patients (62%) underwent cardiovascular surgery of any type. Eight patients died during follow-up. CONCLUSION: We described the clinical characteristics and outcomes of Korean MFS patients. Cardiovascular manifestations were commonly detected and FBN1 mutation was present in approximately 90% of patients. In contrast, ectopia lentis was identified in approximately half of patients. Our findings will be informative for the evaluation of patients with MFS.

Identification of a Fibrillin-1 Gene Mutation in a Monozygotic Twin Presenting with Bilateral Juvenile-onset Ectopia Lentis

No abstract available.

Retrospective review of visual outcome in operated lens subluxation

To describe the visual outcome of patients with lens subluxation [LS], including ectopia lentis [EL] due to genetic causes, who underwent surgical correction using standard selection criteria and surgical techniques in order to assess effectiveness of current LS therapy. This is a retrospective review of 17 sequential patients with LS who underwent lens aspiration between 2000 and 2012 through an anterior [limbal] or posterior [pars plana] approach at King Abdulaziz University Hospital, Riyadh, Saudi Arabia. Snellen visual acuity was converted to the logarithm of the Minimum Angle of Resolution [logMAR] equivalent for statistical analysis. All statistical comparisons were performed by t-test. This series consisted of 28 eyes with causes of LS including Marfan syndrome [12 eyes], familial EL [5 eyes], homocystinuria [4 eyes], sickle cell anemia [2 eyes], and trauma [6 eyes]. Mean visual acuity [VA] for the entire group increased from 20/200 before surgery to 20/70 after surgery [p >/= 0.01]. Post-operative VA was >/= 20/60 in all eyes that did not have complicating factors such as amblyopia, retinal detachment, and/or other ocular abnormalities. Visual outcome of limbal and pars plana approaches was statistically similar [p >/= 0.29]. Patients with genetic causes of EL had a significantly better visual outcome than other patients [p >/= 0.01]; out of these, patients with Marfan syndrome had a better visual outcome than other patients with genetic abnormalities [p >/= 0.02]. Accepted surgical criteria and techniques improved visual outcome in patients with LS. Patients with Marfan syndrome and others genetic abnormalities without ocular complications had best visual outcomes

Subluxação congênita do cristalino: resultados visuais e posição das lentes intraoculares após a cirurgia / Congenital lens subluxation: visual acuity outcomes and intraocular lens postoperative position

OBJETIVO: Avaliar os resultados visuais e investigar, através da biomicroscopia ultrassônica, o posicionamento das lentes intraoculares e do anel endocapsular em 17 olhos de 10 portadores de subluxação congênita do cristalino, submetidos à mesma técnica cirúrgica pelo mesmo cirurgião. MÉTODOS: O estudo foi realizado no Hospital de Olhos de Pernambuco e Fundação Altino Ventura. A técnica cirúrgica consistiu em facoaspiração com implante de anel endocapsular e de lentes intraoculares com amputação de uma das alças. A idade variou entre 7 e 22 anos. Foram coletados dados sobre acuidade visual para longe pré e pós-operatória, tempo de seguimento após a cirurgia e complicações. Os pacientes foram submetidos à biomicroscopia ultrassônica. RESULTADOS: O tempo de seguimento médio foi de 2,8 anos. Houve melhora da acuidade visual para longe nos 17 (100 por cento) olhos: 12 olhos (70,6 por cento) apresentaram acuidade visual para longe melhor que 20/40; 4 (23,5 por cento) apresentaram acuidade visual para longe entre 20/40 e 20/100 e 1 (5,9 por cento) apresentou acuidade visual para longe pior que 20/100, porém melhor que acuidade visual para longe pré-operatória. A opacificação da cápsula posterior ocorreu em 10 olhos (58,9 por cento). Na biomicroscopia ultrassônica observou-se que todas as lentes intraoculares estavam parcialmente descentralizadas, contudo sem atingir o bordo pupilar. Em todos os casos observou-se um adequado posicionamento do anel e um bom suporte capsular. CONCLUSÃO É possível concluir que o tratamento cirúrgico avaliado proporciona uma boa centralização das lentes intraoculares e do anel endocapsular, com melhora da acuidade visual para longe, sendo uma opção viável, eficaz e segura na reabilitação visual dos pacientes com subluxação congênita do cristalino.

PURPOSE: To evaluate the visual acuity outcomes and to investigate the intraocular lens (IOL) and endocapsular ring positions with ultrasound biomicroscopy in 17 eyes of 10 patients with congenital lens subluxation who underwent the same surgical technique, by the same surgeon. METHODS: The study was performed in the ''Hospital de Olhos de Pernambuco'' and ''Fundação Altino Ventura''. The surgical technique consisted of phacoaspiration with implant of endocapsular ring and intraocular lens with one loop haptic amputated. The age varied from 7 to 22 years. Data on visual acuity (VA) before and after surgery, surgery follow-up period, and complications were analyzed. All patients underwent ultrasound biomicroscopy. RESULTS: The mean follow-up period was 2.8 years. There was a VA improvement in 17 (100 percent) eyes: in 12 eyes (70.6 percent) the visual acuity was better than 20/40; 4 (23.5 percent) ranged from 20/40 to 20/100, and 1 (5.9 percent) had visual acuity worse than 20/100, however better than the preoperative visual acuity. The posterior capsular opacification occurred in 10 eyes (58.9 percent). Ultrasound biomicroscopy showed that all IOL were partially decentralized, however without surpassing the pupil border limit. Endocapsular ring position was correct and there was a good capsular support in all cases. CONCLUSION: The evaluated surgical treatment provided good intraocular lens and endocapsular ring position, with VA improvement Thus, this technique is a viable, effective and safe option for the visual rehabilitation of patients with congenital lens subluxation.

Transscleral IOL Fixation With Preserved Anterior Vitreous Face in Marfan Syndrome With Ectopia Lentis

PURPOSE: To evaluate the safety and efficacy of transscleral intraocular lens (IOL) fixation while preserving the anterior vitreous face in treating ectopia lentis of Marfan syndrome. METHODS: This study included six patients (12 eyes) who had undergone surgical intervention for ectopia lentis with or without lenticular opacity. We compared the best-corrected visual acuity (BCVA) before and after the surgery and evaluated perioperative complications. RESULTS: The mean age at the time of surgery was 18.2+/-10.7 years. The mean follow-up period was 11.2+/-7.1 months. Mean BCVA scores changed from 0.96+/-0.37 (LogMar Value) to 0.14+/-0.17 (LogMar Value). All patients showed more than two lines of improvement in visual acuity. In two eyes, pupillary capture was found. Medically controllable intraocular pressure elevation was found in three eyes. CONCLUSIONS: This study suggests that transscleral IOL fixation with a preserved anterior vitreous face can be a safe and effective technique in treating the ectopia lentis of Marfan syndrome.

Transscleral IOL Fixation With Preserved Anterior Vitreous Face in Marfan Syndrome With Ectopia Lentis

PURPOSE: To evaluate the safety and efficacy of transscleral intraocular lens (IOL) fixation while preserving the anterior vitreous face in treating ectopia lentis of Marfan syndrome. METHODS: This study included six patients (12 eyes) who had undergone surgical intervention for ectopia lentis with or without lenticular opacity. We compared the best-corrected visual acuity (BCVA) before and after the surgery and evaluated perioperative complications. RESULTS: The mean age at the time of surgery was 18.2+/-10.7 years. The mean follow-up period was 11.2+/-7.1 months. Mean BCVA scores changed from 0.96+/-0.37 (LogMar Value) to 0.14+/-0.17 (LogMar Value). All patients showed more than two lines of improvement in visual acuity. In two eyes, pupillary capture was found. Medically controllable intraocular pressure elevation was found in three eyes. CONCLUSIONS: This study suggests that transscleral IOL fixation with a preserved anterior vitreous face can be a safe and effective technique in treating the ectopia lentis of Marfan syndrome.

Manifestaciones oculares del síndrome de Marfán / Ocular manifestations of Marfan syndrome

El síndrome de Marfán (SM) es una patología que afecta múltiples órganos y cuando no se maneja de manera adecuada es muy discapacitante con alto costo social para los sistemas de salud. Dentro de los órganos afectados se encuentra el visual, con manifestaciones que no exhiben un patrón de tipicidad debido a la falta de estudios que incluyan el examen oftalmológico completo como parte integral de la valoración y el tratamiento. La presencia de alteraciones oftalmológicas y la identificación de ciertas características al examen físico pueden anteceder las manifestaciones de los otros sistemas que comprenden el complejo diagnóstico de este síndrome, lo que da lugar a un abordaje precoz con manejo temprano y eficaz de alteraciones visuales. El objetivo del presente trabajo es analizar los hallazgos oftalmológicos de los pacientes con SM y describir las alteraciones más comunes en esta población.

Ectopia lentis et pupillae: relato de caso / Ectopia lentis et pupillae: case report

O objetivo do trabalho é relatar um caso de ectopia lentis et pupillae, chamando a atenção para as complicações oculares secundárias e seus diagnósticos diferenciais. Paciente de 27 anos com queixa de baixa acuidade visual. Não possuía características sindrômicas e os exames complementares realizados foram normais. No exame oftalmológico; acuidade visual de conta dedos a 2 metros em olho direito e conta dedos a 1 metro em olho esquerdo. Exotropia alternante de 25 dioptrias. Diâmetros corneanos de 10 mm e 9 mm nos meridianos horizontais e verticais, respectivamente. Ceratometria de 39,00 a 178° x 43,87 a 88° no olho direito e 37,64 a 22° x 42,75 a 112° no olho esquerdo. Na biomicroscopia, ambos os olhos apresentavam atrofia iriana, criptas ausentes e transiluminação de íris negativa. Pupila direita com forma regular e tópica, pupila esquerda também de formato regular, mas com deslocamento temporal inferior. Cristalinos opacificados, com tamanhos diminuídos e deslocados nasalmente. Pressão intra-ocular normal. Na ultra-sonografia, comprimento axial de 26 mm e 30 mm com diâmetro sagital do cristalino de 5,4 mm e 4,5 mm no olho direito e esquerdo, respectivamente. Os diagnósticos diferenciais incluem anormalidades puramente oculares, síndromes e distúrbios metabólicos. O diagnóstico dessa síndrome é importante para avaliação do risco, prognóstico e tratamento, além de ser fundamental seu conhecimento na diferenciação de outras síndromes nas quais há comprometimento sistêmico. A diminuição da acuidade visual é causada, geralmente, por desenvolvimento de grave miopia, catarata, astigmatismo corneano, descolamento de retina e glaucoma sendo justificável acompanhamento oftalmológico regular desses pacientes.

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.

Long Term Results of the Lensectomy in Children with Ectopia Lentis

PURPOSE: To analyze the clinical features and the long term visual results of children with ectopia lentis after lensectomy. METHODS: Enrolled in this study were 79 eyes of 43 patients who were operated on and followed up for at least 3 years. We performed a retrospective analysis of the patient records. RESULTS: The mean age at diagnosis was 4.6 years, mean age at surgery was 5.7 years and average follow-up was 7.1 years. Of the 43 patients with bilateral ectopia lentis, 7 underwent monocular surgery. The mean age at diagnosis was higher and mean postoperative BCVA was significantly lower in the monocular surgery group than in the binocular surgery group. All eyes showed reduced hyperopia for 5 years postoperatively, but the reduction rate of the monocular operated eyes was significantly lower than that of the binocular operated eyes (P<0.05). No complication occurred during surgery and 1 eye (1.3%) with Marfan syndrome showed retinal detachment 9 years after surgery. CONCLUSIONS: Surgical treatment of ectopia lentis was safe and showed good visual outcomes after 7.1 years of follow-up. Nevertheless, consideration must be given to the possibility of amblyopia due to the difference of the degree of dislocation between the two eyes.

Monoscleral fixation of IOL after extracapsular extraction of subluxated lenses in patients with Marfan syndrome

Purpose: To describe a technique of monoscleral fixation of the intraocular leras (lOL) after extracapsular extraction of subluxated lens in patients with Marfan syndrome. Design: Noncomparative, interventional case series. Methods: A retrospective study was conducted on 14 eyes of 7 consecutive patients with subluxated lens associated with Marfan syndrome. Surgery was indicated when: 1) a lens border was observed in the pupil area with the pupil under normal lighting causing glare; or 2) the best corrected visual acuity was less than 20/70; or 3) the patient complained of monocular diplopia. Patients with a history of glaucoma, retinal detachment, trauma or other systemic diseases were excluded. Results: The mean postoperative follow-up was 15.43 ± 9.33 months (range, 6 to 30 months). The best spectacle-corrected visual acuity varied from 20/25 to 20/60, where 71.43 percent reached 20/30 or better. No case showed a worsening of visual acuity, nor were there any intraoperative or postoperative complications (intraocular lens decentration, pupilar block, glaucoma or retinal detachment). The most frequent postoperative complication was astigmatism, observed in 3 eyes (21.43 percent) presenting values greater than 1.5 D, Conclusions: This technique showed very good surgical and visual results and few complications, providing a surgical option for cases of ectopia lentis assoeiated wìth Marfan syndrome, especially in some countries or regions where phacoemulsification is not available.

Cleft lip palate with actopia lentis etpupillae

A 7-year-old male child with a history of bilateral cleft lip and palate presented with ectopia lentis et pupillae; there has been no previous reported association between cleft lip and palate and ectopia lentis

Resultados visuais no tratamento cirúrgico da subluxaçäo de cristalino em crianças / Visual outcome after lensectomy for subluxated lens in children

Objetivo: descrever os resultados das cirurgias de facectomia via pars plana, realizadas em 40 pacientes (71 olhos) com sudescrevebluxaçäo de cristalino. Material e Métodos: quarenta pacientes com subluxaçäo de cristalino, submetidos a facectomia-vitrectomia via pars plana, no período de Janeiro de 1990 a Dezembro de 2000, foram avaliados quanto ao diagnóstico sistêmico, doenças oculares associadas, idade do paciente na cirurgia, acuidade visual pré e pós-operatória, e complicações da cirurgia. As indicações para a cirurgia foram acuidade visual menor ou igual a 0,3 ou complicações relacionadas a subluxaçäo. Resultados: o seguimento pós-operatório variou de 6 a 120 meses (média 42,3 meses). A acuidade visual melhorou em cinqüenta e sete olhos (80,3 por cento), e em quarenta e sete olhos (66,2 por cento) foi melhor do que 0,5. Em quatro olhos, a acuidade manteve-se a mesma do pré-operatório, e um olho teve piora da acuidade. Complicações ocorreram em dois olhos: um paciente teve descolamento de retina no pós-operatório e outro apresentou sangramento intravítreo no trans-operatório. Conclusões: Os resultados da série e o tempo de seguimento dos pacientes demonstram que a facectomia-vitrectomia, em um sistema fechado, pode ser um procedimento seguro e efetivo no tratamento da subluxaçäo de cristalino, em crianças, quando o erro refrativo näo pode ser corrigido por outros meios, com melhora da acuidade visual e baixo número de complicações

A Case of Homocystinuria Complicated with Systemic Deep Vein Thrombosis and Venous Infarction of Thalamus / 대한소아신경학회지

Homocystinuria is an autosomal recessive inherited disorder of methionine metabolism. The most common cause of homocystinuria is cystathione-beta-synthase deficiency, which has the characteristic clinical features such as ectopia lentis, Marfanoid skeletal changes, mental retardation, and vascular thromboembolic events such as deep vein thrombosis, cerebral infarction, pulmonary embolism, and myocardial infarction. The thromboembolic vascular events occur in 20-50% of untreated patients with homocystinuria at the age of 15, and could be associated with vasculopathy related mortality in 20% of untreated patients before the age of 30. Therefore, homocystinuria is one of the important cause of stroke in children and young adults. Only 2 cases of homocystinuria were reported in Korea; one without vasculopathy and the other with cerebral infarction. Homocystinuria complicated with systemic deep vein thrombosis is first reported in Korea. We report a 13 year old female with homocystinuria complicated with severe systemic deep vein thrombosis and venous infarction of both thalami due to thrombosis of vein of Galen and internal cerebral vein.

The Visual Prognosis in Marfan Syndrome with Ectopia Lentis

PURPOSE: To assess the clinical characteristics, indications of operation, operative methods and visual prognosis in Marfan syndrome with ectopia lentis. METHODS: Medical records of 13 patients (24 eyes) operated due to ectopia lentis were retrospectively analyzed. We evaluated family history, chief complaints, refraction, intraocular lens power, preoperative and postoperative visual acuity, visual prognosis according to the operative methods using one way ANOVA statistically, and postoperative complications. RESULTS: The range of age at the time of operation was 5~51 years old (mean age 19.4 years old). 6 men, 7 women, 9 had family history. Decreased visual acuity (8 patients) was the main cause to visit hospital, and the knitting the brow (4), the discovery during routine ocular examination (3), strabismus (2), the difficulty in near work (2), monoocular diplopia (1). The ranges of preoperative best corrected visual acuity were 0.01 to 0.3. Postoperative visual acuity was 0.15 to 0.9. In all cases visual acuities increased. High myopia (more than .6 diopter) was seen in 13 eyes, but the ranges of the axial length were normal. The operation was performed with pas plana approach in 7 eyes, by extracapsular cataract extraction in 12 eyes, and by intracapsular cataract extraction in 5 eyes. Intraocular lenses were inserted in 16 eyes. No statistically differences were seen in postoperative best-corrected visual acuity. Preretinal hemorrhages was seen in only one eye postoperatively, soon disappeared and other complications was not seen. CONCLUSIONS: The most common cause of operation in ectopia lentis was the decreased visual acuity. The cause of high myopia in ectopia lentis was spherophakia due to zonulysis, not axial myopia. The visual prognosis was good in all patients, and no differences was seen respective of operation methods.