scholarly journals Analysis of axial length in young patients with Marfan syndrome and bilateral ectopia lentis by Z-scores

2021 ◽  
Author(s):  
Ze-Xu Chen ◽  
Jia-Hui Chen ◽  
Min Zhang ◽  
Tian-Hui Chen ◽  
Jia-Lei Zheng ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Axial Length ◽  
Young Patients ◽  
Ectopia Lentis ◽  
Z Scores

scholarly journals Analysis of axial Length of Marfan Syndrome with Bilateral Ectopia Lentis by Z-scores for Chinese Patients under 20 years Old

2020 ◽  
Author(s):  
Zexu Chen ◽  
Jiahui Chen ◽  
Min Zhang ◽  
Jialei Zheng ◽  
Michael Deng ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Axial Length ◽  
Influence Factors ◽  
Young Patients ◽  
Chinese Patients ◽  
Curvature Radius ◽  
Z Score ◽  
Ectopia Lentis ◽  
Z Scores ◽  
The Mean

Abstract Purpose: To analyze the axial length (AL) in young patients with Marfan syndrome (MFS) and bilateral ectopia lentis (EL) before the lens surgery. Methods: This study reviewed MFS patients under 20 with bilateral EL from January 2015 to October 2020. The Z-scores were introduced in terms of the number of standard deviations (SD) from the mean of age-matched normative data. Using Z-scores, the distribution of AL and influence factors were evaluated. The correlations between AL and other biometrics were analyzed. Results: We reviewed 183 patients, and enrolled both eyes. The mean age was 8.44 ± 4.69 years old. The mean AL increased from 23.41 ± 1.73 mm under 5 years old to 26.40 ± 2.28 mm in the 16-20 age group, and when plotted, the trend presented a logarithmic curvature. The mean Z-AL score was 1.74 ± 2.68. One-third of eyes had Z-score < 0. The right eye and the eye complicated with megalocornea had larger Z-AL scores. A positive correlation was found between Z-AL and Z-Corneal Curvature Radius (r = 0.265, P < 0.001).Conclusion: Young patents with bilateral EL but small AL should not be excluded from MFS without systematic examination. The age-adjusted Z-score will facilitate further study of the individual variations in AL across different ages.

scholarly journals Age Differences in Axial Length, Corneal Curvature, and Corneal Astigmatism in Marfan Syndrome with Ectopia Lentis

2018 ◽  
Vol 2018 ◽  
pp. 1-8
Author(s):  
Jiahui Chen ◽  
Qinghe Jing ◽  
Yating Tang ◽  
Dongjin Qian ◽  
Yi Lu ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Axial Length ◽  
Young Patients ◽  
Case Series ◽  
Corneal Astigmatism ◽  
Corneal Curvature ◽  
Biometric Data ◽  
Ectopia Lentis ◽  
Case Series Study ◽  
Significant Difference

Purpose. To investigate the differences in axial length, corneal curvature, and corneal astigmatism with age in patients with Marfan syndrome (MFS) and ectopia lentis. Methods. A retrospective case series study was conducted. MFS patients with ectopia lentis were divided into groups according to age. Axial length, corneal curvature, and corneal astigmatism were measured. Results. This study included 114 MFS patients (215 eyes) with a mean age of 19.0 ± 13.9 years. Axial length differed significantly across age groups in MFS patients (P<0.001), whereas corneal curvature did not (P=0.767). Corneal astigmatism was statistically significant throughout the MFS cohort (P=0.009), but no significant difference was found in young MFS patients (P=0.838). With increasing age, the orientation of the corneal astigmatism changed from with-the-rule astigmatism to against-the-rule or oblique astigmatism (P<0.001). A linear correlation analysis showed weak correlations between age and axial length for both eyes and with corneal astigmatism for the left eye, but there was no correlation between age and corneal curvature. Conclusions. In MFS, axial length varies with age, corneal curvature remains stable, and corneal astigmatism is higher in young patients and tends to shift toward against-the-rule or oblique astigmatism. Therefore, it is important to consider age when diagnosing MFS with ocular biometric data.

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.

scholarly journals Distribution of axial length in Chinese congenital ectopia lentis patients: a retrospective study

2017 ◽  
Vol 17 (1) ◽  
Author(s):  
Yichi Zhang ◽  
Guangming Jin ◽  
Qianzhong Cao ◽  
Junxiong Lin ◽  
Jianqiang Lin ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Axial Length ◽  
Ectopia Lentis

Aortic dissection in children and young adults: diagnosis, patients at risk, and outcomes

2003 ◽  
Vol 13 (4) ◽  
pp. 341-344 ◽  
Author(s):  
Eli Zalzstein ◽  
Robert Hamilton ◽  
Nili Zucker ◽  
Samuel Diamant ◽  
Gary Webb
Keyword(s):  
Chest Pain ◽  
Aortic Dissection ◽  
Marfan Syndrome ◽  
Medical Condition ◽  
Young Patients ◽  
Diagnostic Tools ◽  
Cardiac Defects ◽  
Congenital Cardiac Defects ◽  
Ischemic Bowel ◽  
Presenting Symptoms

Objective: To heighten the awareness of pediatricians and pediatric cardiologists to aortic dissection, a potentially dangerous medical condition. Methods: We reviewed the charts of 13 patients, seen in four medical centers, who suffered acute or chronic aortic dissection over the period 1970 through 2000 whilst under the age of 25 years. Results: There were seven male and six female patients, with the mean age at diagnosis being 12.1 years, with a range from one day to 25 years. Congenital cardiac defects were present in five patients, and Marfan syndrome in four. In three of the patients with congenital cardiac defects, aortic dissection developed as a complication of medical procedures. In three patients, dissection followed blunt trauma to the chest. We could not identify any risk factors in one patient. The presenting symptoms included chest pain in four patients, abdominal pain and signs of ischemic bowel in two, non-palpable femoral pulses in one, and obstruction of the superior caval vein in one. Angiography and magnetic resonance imaging were the main diagnostic tools. Overall mortality was 38%. Only six patients had successful surgical outcomes. Conclusion: Due to the rarity of aortic dissection a high index of suspicion is required to reach the diagnosis in a timely manner. It should be considered in young patients complaining of chest pain in association with Marfan syndrome, anomalies of the aortic valve and arch, and chest trauma.

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.

Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome

2020 ◽  
Vol 30 (5) ◽  
pp. 663-667 ◽  
Author(s):  
Emanuele Monda ◽  
Adelaide Fusco ◽  
Daniela Melis ◽  
Martina Caiazza ◽  
Felice Gragnano ◽  
...  
Keyword(s):  
Young Adult ◽  
Family History ◽  
Aortic Valve ◽  
Marfan Syndrome ◽  
Bicuspid Aortic Valve ◽  
Young Patients ◽  
P Value ◽  
Z Score ◽  
Aortic Sinus ◽  
History Of

AbstractBackground:Marfan syndrome is an autosomal dominant disorder of the connective tissue, whose cardinal features affect eyes, musculoskeletal, and cardiovascular system. Despite prevalence and natural history of cardiovascular manifestation are well known in adults, little is known about children and young adult patients. The aim of this study was to describe a well-characterised cohort of consecutive children and young patients with marfan syndrome, looking at the impact of family history and presence of bicuspid aortic valve on disease severity.Methods:A total of 30 consecutive children and young patients with Marfan syndrome were evaluated. All patients underwent a comprehensive clinical–instrumental–genetic evaluation. Particular attention was posed to identify differences in prevalence of cardiovascular abnormalities between patients with and without family history of Marfan syndrome or bicuspid aortic valve.Results:Of these 30 patients, family history of Marfan syndrome and bicuspid aortic valve were present in 76 and 13%, respectively. Compared to patients with family history of Marfan syndrome, those without showed higher prevalence of aortic sinus dilation (87 versus 32%, p-value = 0.009), greater aortic sinus diameters (4.2 ± 2.1 versus 1.9 ± 1.1 z score, p-value = 0.002), and higher rate of aortic surgery during follow-up (37 versus 0%, p-value = 0.002). Compared to patients with tricuspid aortic valve, those with bicuspid aortic valve were younger (3.2 ± 4.3 versus 10.7 ± 6.8 years old, p-value = 0.043), showed greater aortic sinus diameters (4.2 ± 0.9 versus 2.2 ± 1.6 z score, p-value = 0.033), and underwent more frequently aortic root replacement (50 versus 4%, p-value = 0.004).Conclusions:In our cohort of patients with Marfan syndrome, the absence of family history and the presence of bicuspid aortic valve were associated to severe aortic phenotype and worse prognosis.

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