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Genotype-phenotype Correlations of Ocular Posterior Segment Abnormalities in Marfan Syndrome
Yan Liu1,2,3,4, Yuqiao Ju1,2,3,4, Tian-Hui Chen1,2,3,4
1Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
Purpose:
Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the fibrillin-1 ( (FBN1). In addition to typical phenotypes such as ectopia lentis (EL) and aortic dilation, patients with MFS are prone to ocular posterior segment abnormalities, including retinal detachment (RD), maculopathy, and posterior staphyloma (PS). This study aims to investigate the correlations between FBN1 genotype and posterior segment abnormalities within a Chinese cohort of MFS.
Design:
Retrospective study.
Participants:
One hundred twenty-one eyes of 121 patients with confirmed FBN1 mutations between January 2015 and May 2023 were included.
Methods:
Comprehensive ophthalmic examination findings were reviewed, and the incidence of RD, atrophic, tractional, and neovascular maculopathy (ATN classification system), and PS was analyzed between different genotype groups. Only the more severely affected eye from each patient was included.
Main Outcome Measures:
Clinical features and risk factors.
Results:
Of 121 patients, 60 eyes (49.59%) exhibited posterior segment abnormalities, including RD (4, 3.31%), maculopathy (47, 38.84%), and PS (54, 44.63%). The mean age was 11.53 ± 11.66 years, with 79.34% of patients <20 years old. The location and region of mutations were found to be associated with the incidence of maculopathy (P = 0.013, P = 0.033) and PS (P = 0.043, P = 0.036). Mutations in the middle region had a lower incidence of maculopathy and PS (P = 0.028 and P = 0.006, respectively) than those in C-terminal region. Mutations in the transforming growth factor-β (TGF-β) regulating sequence exhibited a higher incidence of maculopathy and PS (P = 0.020, P = 0.040). Importantly, the location and region of mutations were also associated with the incidence of atrophic maculopathy (P = 0.013 and P = 0.033, respectively). Mutations in the middle region had a significantly lower probability of atrophic maculopathy (P = 0.006), while mutations in the TGF-β regulating region had a higher incidence of atrophic maculopathy (P = 0.020).
Conclusions:
Maculopathy and PS were associated with the location and region of FBN1 mutations. Patients with mutations in the TGF-β regulating region faced an increased risk of developing retinopathy.
Financial Disclosures:
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
Insights
Marfan syndrome (MFS) patients with FBN1 gene mutations have higher risks of maculopathy and posterior staphyloma (PS). Specific mutation locations, particularly in the TGF-β regulating region, are linked to increased incidence of these posterior segment abnormalities.
Area of Science:
- Ophthalmology
- Genetics
- Connective Tissue Disorders
Background:
- Marfan syndrome (MFS) is a genetic connective tissue disorder caused by FBN1 gene mutations.
- MFS patients commonly experience ocular issues like ectopia lentis and aortic dilation.
- Posterior segment abnormalities, including retinal detachment, maculopathy, and posterior staphyloma, are prevalent in MFS.
Purpose of the Study:
- To investigate the correlation between FBN1 genotype and posterior segment abnormalities in a Chinese MFS cohort.
- To identify specific FBN1 mutation regions associated with maculopathy and posterior staphyloma.
Main Methods:
- Retrospective study of 121 MFS patients with confirmed FBN1 mutations.
- Comprehensive ophthalmic examinations were reviewed for posterior segment abnormalities.
- Analysis of genotype-phenotype correlations, focusing on mutation location and region.
Main Results:
- Posterior segment abnormalities were observed in 49.59% of patients.
- Maculopathy (38.84%) and posterior staphyloma (44.63%) were the most common findings.
- FBN1 mutation location and region significantly correlated with maculopathy and PS incidence, with mutations in the TGF-β regulating region showing higher risks.
Conclusions:
- The location and region of FBN1 mutations are associated with maculopathy and posterior staphyloma in MFS patients.
- Mutations within the TGF-β regulating sequence increase the risk of developing maculopathy and posterior staphyloma.
- These findings highlight the importance of genotype-phenotype correlation in understanding MFS ocular complications.
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