&lt;p&gt;Ocular Manifestations and Biometrics in Marfan’s Syndrome from Eastern Nepal&lt;/p&gt;

Suwal, Rinkal; Khadka, Simanta; Joshi, Purushottam

doi:10.2147/opth.s269364

Cited by 6 publications

(3 citation statements)

References 39 publications

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“…The incidence of RD was 11.0% in our cohort, which is consistent with the conclusion of the previous study (8~25.6%) [ 9 , 27 ], showing patients with MFS were more likely to be complicated with RD, dramatically at a younger age around 20 years old. Several studies showed that the peripheral retinal changes in MFS include myopic degeneration, lattice degeneration, atrophic holes, chorioretinal pigment proliferation, peripheral vitreous traction syndromes, and retinal breaks [ 5 ].…”

Section: Discussionsupporting

confidence: 92%

What Should We Pay More Attention to Marfan Syndrome Expecting Ectopia Lentis: Incidence and Risk Factors of Retinal Manifestations

Liu

Chen

Jiang

2023

JPM

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(1) Background: This paper investigates the incidence and risk factors of retinal manifestations in patients with Marfan syndrome (MFS) in a Chinese cohort. (2) Methods: This is a population-based cross-sectional study. In total, 344 eyes (172 MFS participants) were enrolled, each of whom underwent a detailed ocular examination. B-scan ultrasonography, ultra-wide-angle fundus images and optical coherence tomography images were conducted to assess posterior staphyloma, types of retinal damages and maculopathy. (3) Results: MFS patients have a high proportion (32.5%) of maculopathy, among which atrophy is the most common type (27.6%). Compared with participants without maculopathy, participants with maculopathy had a longer axial length (AL), higher incidence of posterior staphyloma, macular split and retinal detachment (RD) (p < 0.001, p < 0.001, p < 0.001 and p = 0.001). Moreover, the stage of RD has a significant correlation with longer AL and shallower anterior chamber depth (ACD) (p = 0.001 and p = 0.034, respectively). (4) Conclusions: A higher incidence and earlier onset of fundus lesions were found in MFS patients. Yearly systematic examination is recommended for MFS children with fundus manifestation until the cardiovascular and skeletal development is complete.

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Section: Discussionsupporting

confidence: 92%

What Should We Pay More Attention to Marfan Syndrome Expecting Ectopia Lentis: Incidence and Risk Factors of Retinal Manifestations

Liu

Chen

Jiang

2023

JPM

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“…[48] These findings emphasize the importance of ophthalmologists being aware of the potential diagnostic value of AL and corneal keratometry in the diagnosis of MF syndrome. [6,47,48] In this context, we employed the WGCNA method to establish a gene coexpression network linked to the clinical characteristics of MFS. Surprisingly, we discovered that the protein modules correlated with AL and corneal curvature had significantly higher GS scores and were functionally linked with each other.…”

Section: Discussionmentioning

confidence: 99%

“…Recent studies have highlighted the importance of considering AL and corneal curvature in the ophthalmic evaluation of suspected and diagnosed cases of MFS. [ 47 ] While these parameters are not currently included as diagnostic criteria in the revised Ghent‐2 nosology, the Marfan Eye Consortium of Chicago recommends that patients with longer AL and flatter corneas should be considered as potential MFS cases. [ 6 ] In a study by Martin Heur et al., there was a significant difference in corneal curvature values between MFS and control patients, with values less than 42 D potentially serving as a clinical diagnostic criterion for MFS.…”

Section: Discussionmentioning

confidence: 99%

Uncovering the Hidden World of Aqueous Humor Proteins for Discovery of Biomarkers for Marfan Syndrome

Shi,

Chen,

Cai

et al. 2023

Advanced Science

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Ectopia lentis is a hallmark of Marfan syndrome (MFS), a genetic connective tissue disorder affecting 1/5000 to 1/10 000 individuals worldwide. Early detection in ophthalmology clinics and timely intervention of cardiovascular complications can be lifesaving. In this study, a modified proteomics workflow with liquid chromatography‐tandem mass spectrometry (LC‐MS/MS)‐based data‐independent acquisition (DIA) and field asymmetric ion mobility spectrometry (FAIMS) to profile the proteomes of aqueous humor (AH) and lens tissue from MFS children with ectopia lentis is utilized. Over 2300 and 2938 comparable proteins are identified in AH and the lens capsule, respectively. Functional enrichment analyses uncovered dysregulation of complement and coagulation‐related pathways, collagen binding, and cell adhesion in MFS. Through weighted correlation network analysis (WGCNA) and machine learning, distinct modules associated with clinical traits are constructed and a unique biomarker panel (Q14376, Q99972, P02760, Q07507; gene names: GALE, MYOC, AMBP, DPT) is defined. These biomarkers are further validated using advanced parallel reaction monitoring (PRM) in an independent patient cohort. The results provide novel insights into the proteome characterization of ectopia lentis and offer a promising approach for developing a valuable biomarker panel to aid in the early diagnosis of Marfan syndrome via AH proteome.

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In Search of Mouse Models for Exfoliation Syndrome

Kuchtey,

Insignares,

Yang

et al. 2024

American Journal of Ophthalmology

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<p>Ocular Manifestations and Biometrics in Marfan’s Syndrome from Eastern Nepal</p>

Cited by 6 publications

References 39 publications

What Should We Pay More Attention to Marfan Syndrome Expecting Ectopia Lentis: Incidence and Risk Factors of Retinal Manifestations

What Should We Pay More Attention to Marfan Syndrome Expecting Ectopia Lentis: Incidence and Risk Factors of Retinal Manifestations

Uncovering the Hidden World of Aqueous Humor Proteins for Discovery of Biomarkers for Marfan Syndrome

In Search of Mouse Models for Exfoliation Syndrome

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