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.
Arachnodactyly ; Calcium ; Cisterna Magna ; Codon ; Contracture ; Diagnosis ; Diaphragmatic Eventration ; Dilatation ; Ear ; Ectopia Lentis ; Exons ; Follow-Up Studies ; Glutamic Acid ; Humans ; Hydronephrosis ; Infant, Newborn ; Joints ; Korea* ; Lysine ; Male ; Marfan Syndrome* ; Mutation, Missense ; Skin ; Tricuspid Valve Insufficiency

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.
Anterior Chamber ; Dislocations ; Ectopia Lentis* ; Female ; Genetic Counseling ; Genetic Testing ; Humans ; Intraocular Pressure ; Lens, Crystalline ; Lenses, Intraocular ; Middle Aged ; Phacoemulsification ; Visual Acuity

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.
Aortic Aneurysm ; Asian Continental Ancestry Group ; Connective Tissue ; Demography ; Diagnosis ; Dilatation ; Ectopia Lentis ; Follow-Up Studies ; Hematoma ; Humans ; Korea* ; Male ; Marfan Syndrome* ; Mitral Valve Prolapse ; Phenotype ; Wills

No abstract available.
Child, Preschool ; DNA Mutational Analysis ; Diseases in Twins/*genetics/metabolism ; Ectopia Lentis/*genetics/metabolism ; Extracellular Matrix Proteins ; Humans ; Male ; Microfilament Proteins/*genetics/metabolism ; *Mutation ; *Twins, Monozygotic

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.
Ectopia Lentis ; Eye ; Follow-Up Studies ; Humans ; Intraocular Pressure ; Lenses, Intraocular ; Marfan Syndrome ; Visual Acuity

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.
Ectopia Lentis ; Eye ; Follow-Up Studies ; Humans ; Intraocular Pressure ; Lenses, Intraocular ; Marfan Syndrome ; Visual Acuity

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.
Amblyopia ; Child* ; Diagnosis ; Dislocations ; Ectopia Lentis* ; Follow-Up Studies ; Humans ; Hyperopia ; Marfan Syndrome ; Retinal Detachment ; Retrospective Studies ; Telescopes

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.
Cataract Extraction ; Diplopia ; Ectopia Lentis* ; Female ; Hemorrhage ; Humans ; Lenses, Intraocular ; Male ; Marfan Syndrome* ; Medical Records ; Myopia ; Postoperative Complications ; Prognosis* ; Retrospective Studies ; Strabismus ; Visual Acuity

PURPOSE: We evaluated the clinical results of phacoemulsifacation using microhook iris retractor for the management of ectopia lentis in Marfan syndrome. METHODS: Seventeen eyes of 9 patients with Marfan syndrome were included. All the patients had undergone phacoemulsifacation with microhook iris retractor capsule stabilization between May 1997 and January 2000. RESULTS: Mean patient age was 11.6 +/-8.2 years old. Superior nasal(38%) and superior temporal(38%) were the most common direction of lens dislocation. Fifteen eyes demonstrated improvement in best corrected visual acuity by 2 lines or more following average follow-up period of 22.9 +/-9.2 months. As postoperative complications retinal detachment developed in 3 eyes. CONCLUSIONS: Phacoemulsifacation using microhook iris retractor for capsule stabilization appears to be a good technique for the management of ectopia lentis in Marfan syndrome.
Ectopia Lentis* ; Follow-Up Studies ; Humans ; Iris* ; Lens Subluxation ; Marfan Syndrome* ; Phacoemulsification* ; Postoperative Complications ; Retinal Detachment ; Visual Acuity

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.
Adolescent ; Cerebral Infarction ; Cerebral Veins ; Child ; Ectopia Lentis ; Female ; Homocystinuria* ; Humans ; Infarction* ; Intellectual Disability ; Korea ; Metabolism ; Methionine ; Mortality ; Myocardial Infarction ; Pulmonary Embolism ; Stroke ; Thalamus* ; Thrombosis ; Venous Thrombosis* ; Young Adult