Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies

Objective: To investigate the clinical outcomes of three surgical approaches for ectopia lentis in Marfan syndrome (MS) patients who had undergone crystalline lens removal with posterior chamber intraocular lens (IOL) implantation techniques comprising the intrascleral fixation of IOL, sutured scleral fixation of IOL, and IOL implantation with the use of a Cionni capsular tension ring (CTR). Methods: This is a retrospective comparative study, including 35 eyes of 21 patients who underwent the intrascleral fixation of IOL (group 1), scleral IOL fixation with the Z-suture (group 2), and IOL implantation with the use of a Cionni CTR (group 3) following crystalline lens removal. The surgical indications were as follows: no improvement in visual function after eyeglasses or contact lens application due to excessive irregular astigmatism and advanced crystalline lens decentration in which the edge of the crystalline lens came up to the optical axis, or dislocation of the crystalline lens resulting in aphakia and secondary glaucoma due to lens dislocation. The surgical outcomes and complications due to surgery were compared between the groups. Results: The mean age of the patients in the study was 12.3 ± 8.7 years (5–32 years). There were 10 eyes in group 1, 13 eyes in group 2, and 12 eyes in group 3. Visual acuity improved significantly in each group after surgery. Ocular residual astigmatism did not differ significantly between the groups ( p = 0.51). Conclusion: There were no significant differences between the three surgical approaches in the current study in terms of the postoperative results and complications.

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Transscleral Intraocular Lens Fixation with Preservation of the Anterior Vitreous Face in Patients with Marfan Syndrome and Ectopia Lentis

Cornea ◽

10.1097/ico.0b013e3181ea48de ◽

2010 ◽

Vol 29 ◽

pp. S20-S24 ◽

Cited By ~ 7

Author(s):

Wan-Soo Kim

Keyword(s):

Marfan Syndrome ◽

Intraocular Lens ◽

Ectopia Lentis

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Common Maternal Genetic Syndromes II: Marfan Syndrome

10.2310/obg.19143 ◽

2019 ◽

Author(s):

Ali Said Al-Beshri ◽

Nathaniel H. Robin

Keyword(s):

Genetic Testing ◽

Aortic Dissection ◽

Marfan Syndrome ◽

Accurate Diagnosis ◽

Genetic Syndromes ◽

Connective Tissues ◽

Ectopia Lentis ◽

Surgical Interventions ◽

Obstetric Management ◽

Careful Physical Examination

Marfan syndrome is an autosomal dominant syndrome that affects various connective tissues including the aorta and skeletal system. It represent a major cause of aortic dissection in individuals with seemingly unremarkable past medical history, and is the most common cause of aortic dissection in pregnancy. Prompt and accurate diagnosis can be lifesaving. Careful physical examination and detailed personal and family history is vital for clinical evaluation. Genetic testing is often needed for accurate diagnosis but result interpretation might be challenging and genetic counseling is always required. Established guidelines can help navigate the challenges in obstetric management, which may include major surgical interventions during or after pregnancy. This review contains 6 figures, 4 tables, and 40 references. Keywords: Marfan syndrome, FBN1, aortic dissection, dilatation, connective tissue, ectopia lentis, pectus, systemic score, Ghent diagnostic criteria, genetic testing.

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

Journal of the Korean Ophthalmological Society ◽

10.3341/jkos.2009.50.8.1174 ◽

2009 ◽

Vol 50 (8) ◽

pp. 1174

Author(s):

Hae-Won Choi ◽

Eun-Hee Kim ◽

Wan-Soo Kim

Keyword(s):

Marfan Syndrome ◽

Ectopia Lentis ◽

Iol Fixation

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Common Maternal Genetic Syndromes II: Marfan Syndrome

10.2310/fm.19143 ◽

2019 ◽

Author(s):

Ali Said Al-Beshri ◽

Nathaniel H. Robin

Keyword(s):

Genetic Testing ◽

Aortic Dissection ◽

Marfan Syndrome ◽

Accurate Diagnosis ◽

Genetic Syndromes ◽

Connective Tissues ◽

Ectopia Lentis ◽

Surgical Interventions ◽

Obstetric Management ◽

Careful Physical Examination

Marfan syndrome is an autosomal dominant syndrome that affects various connective tissues including the aorta and skeletal system. It represent a major cause of aortic dissection in individuals with seemingly unremarkable past medical history, and is the most common cause of aortic dissection in pregnancy. Prompt and accurate diagnosis can be lifesaving. Careful physical examination and detailed personal and family history is vital for clinical evaluation. Genetic testing is often needed for accurate diagnosis but result interpretation might be challenging and genetic counseling is always required. Established guidelines can help navigate the challenges in obstetric management, which may include major surgical interventions during or after pregnancy. This review contains 6 figures, 4 tables, and 40 references. Keywords: Marfan syndrome, FBN1, aortic dissection, dilatation, connective tissue, ectopia lentis, pectus, systemic score, Ghent diagnostic criteria, genetic testing.

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Microfibril abnormalities of the lens capsule in patients with Marfan syndrome and ectopia lentis

Ophthalmic Genetics ◽

10.1076/1381-6810(200003)2111-ift009 ◽

2000 ◽

Vol 21 (1) ◽

pp. 9-15 ◽

Cited By ~ 27

Author(s):

Elias I. Traboulsi ◽

Judith A. Whittum-Hudson ◽

Sammy Mir ◽

Irene H. Maumenee

Keyword(s):

Marfan Syndrome ◽

Lens Capsule ◽

Ectopia Lentis

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Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity

Journal of Clinical Medicine ◽

10.3390/jcm9030721 ◽

2020 ◽

Vol 9 (3) ◽

pp. 721

Author(s):

Jean-Christophe Zech ◽

Audrey Putoux ◽

Evelyne Decullier ◽

Anne-Emmanuelle Fargeton ◽

Patrick Edery ◽

...

Keyword(s):

Positive Predictive Value ◽

Marfan Syndrome ◽

Predictive Value ◽

Anterior Segment ◽

Control Group ◽

Clinical Practices ◽

Predictive Values ◽

Ectopia Lentis ◽

Grade Classification

Purpose: To describe a five-grade classification of ectopia lentis in Marfan syndrome (MFS) and to evaluate the positive predictive value of the early grades of ectopia lentis. Methods: We prospectively included MFS patients and their healthy relatives. The anterior segment examination was classified into grades 0 to 5, and we studied the sensitivity, specificity, and positive predictive value of ectopia lentis in this classification. Results: Seventy-four MFS patients and thirty-six healthy controls were examined. In the MFS group, grades 1, 2, 3, and 4 were present in 15, 24, 17, and 7 patients, respectively, whereas 11 patients in this group did not present ectopia lentis. In the control group, grades 0 and 1 were observed in 30 and 6 individuals, respectively. Sensitivity to ectopia lentis of at least grade 2 was 64.9%, with 100% specificity, whereas sensitivity to ectopia lentis of at least grade 1 was 85.1%, with 83.3% specificity. The positive predictive value of ectopia lentis that was greater than or equal to grade 2 was 100%, whereas that of ectopia lentis greater than or equal to grade 1 was 91.3%. Conclusions: High positive predictive values s were found to be associated with grades 2 and higher of the five-grade classification of ectopia lentis. This classification should help to harmonize clinical practices for this major feature of MFS.

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