Microcornea and bilateral ectopia lentis in an infant: unusual severe ocular presentation of neonatal Marfan syndrome

2019 ◽  
Vol 23 (2) ◽  
pp. 107-108
Author(s):  
Shilpa Elizabeth Kuruvilla ◽  
Sarah Welch ◽  
Yvonne Ng
Keyword(s):  
Marfan Syndrome ◽  
Ectopia Lentis ◽  
Neonatal Marfan Syndrome

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

1994 ◽  
Vol 6 (1) ◽  
pp. 64-69 ◽  
Author(s):  
Katariina Kainulainen ◽  
Leena Karttunen ◽  
Lea Puhakka ◽  
Lynn Sakai ◽  
Leena Peltonen
Keyword(s):  
Marfan Syndrome ◽  
Ectopia Lentis ◽  
Neonatal Marfan Syndrome

Outcomes of three surgical approaches for managing ectopia lentis in Marfan syndrome

2021 ◽  
pp. 112067212199295
Author(s):  
Gurkan Erdogan ◽  
Nilay Kandemir Besek ◽  
Betul Onal Gunay ◽  
Alper Agca
Keyword(s):  
Marfan Syndrome ◽  
Crystalline Lens ◽  
Surgical Approaches ◽  
Posterior Chamber ◽  
Ectopia Lentis ◽  
Iol Implantation ◽  
Capsular Tension Ring ◽  
Group 3 ◽  
Group 2 ◽  
Group 1

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.

Common Maternal Genetic Syndromes II: Marfan Syndrome

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.

Cardiac Transplantation in Neonatal Marfan Syndrome - A Life-Saving Approach

2005 ◽  
Vol 53 ◽  
pp. S146-S148 ◽  
Author(s):  
T. Krasemann ◽  
S. Kotthoff ◽  
H.-G. Kehl ◽  
V. Debus ◽  
T. D. T. Tjan ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Cardiac Transplantation ◽  
Life Saving ◽  
Neonatal Marfan Syndrome

scholarly journals A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team

2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Elliott J. Carande ◽  
Samuel J. Bilton ◽  
Satish Adwani
Keyword(s):  
Marfan Syndrome ◽  
Surgical Intervention ◽  
Rare Condition ◽  
Mitral Valve Regurgitation ◽  
Left Ventricular ◽  
Cardiac Complications ◽  
Chromosome 15 ◽  
Fibrillin 1 ◽  
Neonatal Marfan Syndrome

Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her diagnosis followed the identification of a fibrillin-1 mutation (FBN1gene, exon 26, chromosome 15), which is a common locus of nMFS. This patient developed severe cardiac complications resulting in congestive cardiac failure in early life and required major cardiac surgery. Since surgical intervention, our patient is still reliant on a degree of ventilator support, but the patient has gained weight and echocardiography has demonstrated improved left ventricular function and improved tricuspid and mitral valve regurgitation. Therefore, we argue the importance of a cautious multidisciplinary approach to early surgical intervention in cases of nMFS.

Primary trabeculodysgenesis in association with neonatal Marfan syndrome

2004 ◽  
Vol 128A (4) ◽  
pp. 418-421 ◽  
Author(s):  
Charlotte M. Whitelaw ◽  
Samira Anwar ◽  
Lesley C. Adès ◽  
Glen A. Gole ◽  
James E. Elder ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Neonatal Marfan Syndrome

Neonatal Marfan syndrome with missense variant of c.3706T>C undergoing bilateral atrioventricular valve replacement

2021 ◽  
pp. 1-4
Author(s):  
Junpei Kawamura ◽  
Kentaro Ueno ◽  
Yoshifumi Kawano
Keyword(s):  
Marfan Syndrome ◽  
Valve Replacement ◽  
Tricuspid Valve ◽  
Rare Condition ◽  
Missense Variant ◽  
Tricuspid Valve Replacement ◽  
Genetic Syndrome ◽  
Fibrillin 1 ◽  
Valve Insufficiency ◽  
Neonatal Marfan Syndrome

Abstract Neonatal Marfan syndrome is a rare condition with poor prognosis because of severe mitral and/or tricuspid valve insufficiency. Mitral valve replacement is sometimes required in early infancy, while tricuspid valve replacement is rarely done. We report the first infant neonatal Marfan syndrome case with a missense variant of c.3706T>C in the fibrillin-1 gene that was successfully managed by mitral and tricuspid valve replacement. Early multiple-valve replacement may sometimes be required during infant age in this genetic syndrome.

Common Maternal Genetic Syndromes II: Marfan Syndrome

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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