| [1] |
Milewicz DM, Braverman AC, De Backer J, et al. Marfan syndrome[J]. Nature reviews. Disease primers, 2021, 7(1): 64.
|
| [2] |
Lepore V, Jeppsson A, Rådberg G, et al. Aortic surgery in patients with marfan syndrome: long-term survival, morbidity and function[J]. The Journal of Heart Valve Disease, 2001, 10(1): 25-30.
|
| [3] |
Groth KA, Hove H, Kyhl K, et al. Prevalence, incidence, and age at diagnosis in Marfan Syndrome[J]. Orphanet Journal of Rare Diseases, 2015, 10: 153.
|
| [4] |
Muiño-Mosquera L, Cervi E, De Groote K, et al. Management of aortic disease in children with FBN1-related Marfan syndrome[J]. European Heart Journal, 2024, 45(39): 4156-4169.
|
| [5] |
Zhu Z, Wang Y, Qi Z, et al. Oculomics: Current concepts and evidence[J]. Progress in Retinal and Eye Research, 2025, 106: 101350.
|
| [6] |
Drolsum L, Rand-Hendriksen S, Paus B, et al. Ocular findings in 87 adults with Ghent-1 verified Marfan syndrome[J]. Acta ophthalmologica, 2015, 93(1): 46-53.
|
| [7] |
Sharma T, Gopal L, Shanmugam MP, et al. Retinal detachment in Marfan syndrome: clinical characteristics and surgical outcome[J]. Retina (Philadelphia, Pa.), 2002, 22(4): 423-428.
|
| [8] |
Giordano N, Geraci S, Santacroce C, et al. Usefulness of online bibliographic research in biomedical research, with an application to the epidemiologic study of genetic osteopathy[J]. Annali dell'Istituto Superiore Di Sanita, 2000, 36(3): 351-361.
|
| [9] |
Wang Y, Lian Z, Zhou Y, et al. Differential diagnosis of Marfan syndrome based on ocular biologic parameters[J]. Annals of translational medicine, 2020, 8(21): 1354.
|
| [10] |
Jin G, Zou M, Li L, et al. Corneal biomechanics and their association with severity of lens dislocation in Marfan syndrome[J]. International ophthalmology, 2024, 44(1): 148.
|
| [11] |
Gehle P, Goergen B, Pilger D, et al. Biometric and structural ocular manifestations of Marfan syndrome[J]. PloS one, 2017, 12(9): e0183370.
|
| [12] |
Sultan G, Baudouin C, Auzerie O, et al. Cornea in Marfan disease: Orbscan and in vivo confocal microscopy analysis[J]. Investigative ophthalmology & visual science, 2002, 43(6): 1757-1764.
|
| [13] |
Heur M, Costin B, Crowe S, et al. The value of keratometry and central corneal thickness measurements in the clinical diagnosis of Marfan syndrome[J]. American journal of ophthalmology, 2008, 145(6): 997-1001.
|
| [14] |
Chen TH, Miao AZ, Wang YL, et al. Evaluation of axial length/total corneal refractive power ratio as a potential marker for ocular diagnosis of Marfan's syndrome in children[J]. International journal of ophthalmology, 2021, 14(8): 1218-1224.
|
| [15] |
Chen T, Chen J, Jin G, et al. Clinical Ocular Diagnostic Model of Marfan Syndrome in Patients With Congenital Ectopia Lentis by Pentacam AXL System[J]. Translational vision science & technology, 2021, 10(7): 3.
|
| [16] |
Iordanidou V, Sultan G, Boileau C, et al. In vivo corneal confocal microscopy in marfan syndrome[J]. Cornea, 2007, 26(7): 787-792.
|
| [17] |
Vanhonsebrouck E, Consejo A, Coucke PJ, et al. The corneoscleral shape in Marfan syndrome[J]. Acta ophthalmologica, 2021, 99(4): 405-410.
|
| [18] |
Jia WN, Wang QY, Niu LL, et al. Morphometric Assessment of the Ciliary Body in Patients With Marfan Syndrome and Ectopia Lentis: A Quantitative Study Using Ultrasound Biomicroscopy[J]. American journal of ophthalmology, 2023, 251: 24-31.
|
| [19] |
Alluyn L, Dequeker L, Dhaese S, et al. Anterior scleral thickness in Marfan syndrome: A quantitative analysis[J]. Acta ophthalmologica, 2024, 102(7): e1050-e1056.
|
| [20] |
Di Marino M, Cesareo M, Aloe G, et al. Retinal and Choroidal Vasculature in Patients with Marfan Syndrome[J]. Translational vision science & technology, 2020, 9(9): 5.
|
| [21] |
Chen H, Ng KY, Li S, et al. Characteristics of the foveal microvasculature in children with marfan syndrome: An Optical Coherence Tomography Angiography Study[J]. Retina (Philadelphia, Pa.), 2022, 42(1): 138-151.
|
| [22] |
Xu W, Kurup SP, Fawzi AA, et al. Comparative data on SD-OCT for the retinal nerve fiber layer and retinal macular thickness in a large cohort with Marfan syndrome[J]. Ophthalmic genetics, 2017, 38(1): 34-38.
|
| [23] |
Ng K, Xu P, Jin G, et al. Quantitative analysis of choriocapillaris flow deficits and choroidal thickness in children with Marfan syndrome[J]. The British Journal of Ophthalmology, 2024, 108(2): 274-279.
|
| [24] |
Wu JH, Liu T. Application of Deep Learning to Retinal-Image-Based Oculomics for Evaluation of Systemic Health: A Review[J]. Journal of Clinical Medicine, 2022, 12(1): 152.
|
| [25] |
Wang G, Liu C, Wu Q, et al. Systematical analysis of underlying markers associated with Marfan syndrome via integrated bioinformatics and machine learning strategies[J]. Journal of Biomolecular Structure & Dynamics, 2024, 42(11): 5713-5724.
|
| [26] |
Stone JH. Ectopia lentis, cardiology, and " the sign of the tremulous iris" [J]. American heart journal, 1966, 72(4): 466-468.
|
| [27] |
Ribeiro WN, Leite WF, Vallim AL, et al. Evaluation of the clinical features of an outpatient cohort with Marfan syndrome[J]. International journal of cardiology, 2025, 418: 132604.
|
| [28] |
Chandra A, Charteris D. Molecular pathogenesis and management strategies of ectopia lentis[J]. Eye, 2014, 28(2): 162-168.
|
| [29] |
Nemet AY, Assia EI, Apple DJ, et al. Current Concepts of Ocular Manifestations in Marfan Syndrome[J]. Survey of Ophthalmology, 2006, 51(6): 561-575.
|
| [30] |
Viljoen D. Congenital contractural arachnodactyly (Beals syndrome)[J]. Journal of Medical Genetics, 1994, 31(8): 640-643.
|
| [31] |
Li JT, Chen ZX, Chen XJ, et al. Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype-phenotype correlation[J]. Orphanet Journal of Rare Diseases, 2022, 17(1): 392.
|
| [32] |
Rothe MJ, Grant-Kels JM, Kels BD. Ocular and cutaneous manifestations of heritable disorders of collagen and elastic tissue[J]. Dermatologic Clinics, 1992, 10(3): 591-595.
|
| [33] |
Faivre L, Dollfus H, Lyonnet S, et al. Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome[J]. American Journal of Medical Genetics. Part A, 2003, 123(2): 204-207.
|
| [34] |
Gus PI, Donis KC, Marinho D, et al. Ocular manifestations in classic homocystinuria[J]. Ophthalmic Genetics, 2021, 42(1): 71-74.
|
| [35] |
Koenig SB, Mieler WF. Management of ectopia lentis in a family with Marfan syndrome[J]. Archives of Ophthalmology (Chicago, Ill.: 1960), 1996, 114(9): 1058-1061.
|
| [36] |
Guo H, Wu X, Cai K, et al. Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review[J]. BMC ophthalmology, 2015, 15: 3.
|
| [37] |
Bosun I. Secondary glaucoma in the Weill-Marchesani syndrome[J]. Oftalmologia (Bucharest, Romania: 1990), 1993, 37(4): 335-338.
|
| [38] |
el Kettani A, Hamdani M, Rais L, et al. Weill Marchesani syndrome. Report of a case[J]. Journal Francais D'ophtalmologie, 2001, 24(9): 944-948.
|
| [39] |
Chung JL, Kim SW, Kim JH, et al. A case of Weill-Marchesani syndrome with inversion of chromosome 15[J]. Korean journal of ophthalmology: KJO, 2007, 21(4): 255-260.
|
| [40] |
Shafique M, Muzaffar W, Ishaq M. The eye as a window to a rare disease: ectopia lentis and homocystinuria, a Pakistani perspective[J]. International Ophthalmology, 2016, 36(1): 79-83.
|
| [41] |
Alzwaihri AS, Almasoudi EA, Hadrawi MT, et al. Incidence and risk factors of ocular complications among patients with homocystinuria in Saudi Arabia: a cross-sectional study[J]. Annals of Medicine and Surgery (2012), 2025, 87(5): 2602-2607.
|
| [42] |
Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome[J]. Journal of Medical Genetics, 2010, 47(7): 476-485.
|
| [43] |
Chipeta C, Aragon-Martin J, Chandra A. Zonulopathies as Genetic Disorders of the Extracellular Matrix[J]. Genes, 2024, 15(12): 1632.
|
| [44] |
Kaur K, Gurnani B. Ectopia Lentis [EB/OL]. StatPearls Internet. Treasure Island (FL): StatPearls Publishing, 2023.
|
| [45] |
Lian Z, Hu Y, Liu Z, et al. Longitudinal changes of refractive error in preschool children with congenital ectopia lentis[J]. International ophthalmology, 2024, 44(1): 85.
|
| [46] |
Bassnett S. Zinn's zonule[J]. Progress in Retinal and Eye Research, 2021, 82: 100902.
|
| [47] |
Nelson LB, Maumenee IH. Ectopia lentis[J]. Survey of ophthalmology, 1982, 27(3): 143-160.
|
| [48] |
Motawa MN, Shehri MS, Al Buali MJ, et al. Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature[J]. The American Journal of Case Reports, 2021, 22: e930824-e930828.
|
| [49] |
Liu X, Niu L, Zhang L, et al. Clinical and genetic findings in Chinese families with congenital ectopia lentis[J]. Molecular Genetics & Genomic Medicine, 2023, 11(5): e2140.
|
| [50] |
Chen J, Jing Q, Tang Y, et al. Age Differences in Axial Length, Corneal Curvature, and Corneal Astigmatism in Marfan Syndrome with Ectopia Lentis[J]. Journal of Ophthalmology, 2018: 1436834.
|
| [51] |
Izquierdo LJ, Gomez I, Moctezuma C, et al. Biometric and corneal characteristics in marfan syndrome with ectopia lentis[J]. Journal francais d'ophtalmologie, 2024, 47(4): 104096.
|
| [52] |
Mueller GC, Stark V, Steiner K, et al. The Kid-Short Marfan Score (Kid-SMS) - an easy executable risk score for suspected paediatric patients with Marfan syndrome[J]. Acta Paediatrica (Oslo, Norway: 1992), 2013, 102(2): e84-e89.
|
| [53] |
Stark VC, Arndt F, Harring G, et al. Kid-Short Marfan Score (Kid-SMS) Is a Useful Diagnostic Tool for Stratifying the Pre-Test Probability of Marfan Syndrome in Childhood[J]. Diseases (Basel, Switzerland), 2015, 3(1): 24-33.
|
| [54] |
Luebke J, Boehringer D, Eberwein P, et al. Corneal K-Values as a Diagnostic Screening Tool for Marfan Syndrome[J]. Cornea, 2017, 36(6): 700-703.
|
| [55] |
Chen ZX, Jia WN, Chen TH, et al. Genotype Impacts Axial Length Growth in Pseudophakic Eyes of Marfan Syndrome[J]. Investigative Ophthalmology & Visual Science, 2023, 64(10): 28.
|
| [56] |
Vakalopoulos DG, Lampsas S, Chatzea MS, et al. Refractive Alterations in Marfan Syndrome: A Narrative Review[J]. Medicina, 2025, 61(2): 250.
|
| [57] |
Fan Y, Huang Y, Huang X. Association between Axial Length to Corneal Curvature Radius Ratio and Myopia in Adult Patients[J]. Journal of Ophthalmology, 2024: 4981095.
|
| [58] |
Konradsen TR, Koivula A, Kugelberg M, et al. Corneal curvature, pachymetry, and endothelial cell density in Marfan syndrome[J]. Acta ophthalmologica, 2012, 90(4): 375-379.
|
| [59] |
Chen J, Jing Q, Tang Y, et al. Corneal Curvature, Astigmatism, and Aberrations in Marfan Syndrome with Lens Subluxation: Evaluation by Pentacam HR System[J]. Scientific Reports, 2018, 8: 4079.
|
| [60] |
Salchow DJ, Gehle P. Ocular manifestations of Marfan syndrome in children and adolescents[J]. European Journal of Ophthalmology, 2019, 29(1): 38-43.
|
| [61] |
Singh J, Wanjari A. Cardiac Complications in Marfan Syndrome: A Review[J]. Cureus, 2022, 14(9): e29800.
|
| [62] |
Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome[J]. Nature Genetics, 2003, 33(3): 407-411.
|
| [63] |
Rezar-Dreindl S, Eibenberger K, Told R, et al. Microvascular Retinal Changes in Patients with Marfan Syndrome[J]. Current Eye Research, 2022, 47(8): 1186-1192.
|
| [64] |
Liu Y, Chen T, Jiang Y. What Should We Pay More Attention to Marfan Syndrome Expecting Ectopia Lentis: Incidence and Risk Factors of Retinal Manifestations[J]. Journal of Personalized Medicine, 2023, 13(3): 398.
|
| [65] |
Liu Y, Ju Y, Chen T hui, et al. Genotype-phenotype Correlations of Ocular Posterior Segment Abnormalities in Marfan Syndrome[J]. Ophthalmology Science, 2024, 4(5): 100526.
|
| [66] |
Abdelmassih Y, Lecoge R, El Hassani M, et al. Risk Factors for Retinal Detachment in Marfan Syndrome After Pediatric Lens Removal[J]. American Journal of Ophthalmology, 2024, 266: 190-195.
|
| [67] |
Chen T, Deng M, Zhang M, et al. Visual outcomes of lens subluxation surgery with Cionni modified capsular tension rings in Marfan syndrome[J]. Scientific Reports, 2021, 11: 2994.
|
| [68] |
Ramakrishnan S, Sulochana KN, Lakshmi S, et al. Biochemistry of homocysteine in health and diseases[J]. Indian Journal of Biochemistry & Biophysics, 2006, 43(5): 275-283.
|
| [69] |
Mohamed R, Sharma I, Ibrahim AS, et al. Hyperhomocysteinemia Alters Retinal Endothelial Cells Barrier Function and Angiogenic Potential via Activation of Oxidative Stress[J]. Scientific Reports, 2017, 7(1): 11952.
|
| [70] |
Kjeldsen S, Andersen N, Groth K, et al. Ocular morbidity in Marfan syndrome: a nationwide epidemiological study[J]. The British Journal of Ophthalmology, 2023, 107(8): 1051-1055.
|
| [71] |
Wheatley H, Traboulsie E, Flowers B, et al. Immunohistochemical Locallzation of Fibrillin in human ocular-tissues-relevance to the marfan-syndrome[J]. Archives of ophthalmology, 1995, 113(1): 103-109.
|
| [72] |
Lipscomb KJ, Clayton-Smith J, Harris R. Evolving phenotype of Marfan's syndrome[J]. Archives of Disease in Childhood, 1997, 76(1): 41-46.
|
| [73] |
Johnson CM, Spruiell B, Wiesen C, et al. Craniofacial characterization of Marfan Syndrome[J]. Orthodontics & Craniofacial Research, 2019, 22 (1): 56-61.
|
| [74] |
Dolci C, Pucciarelli V, Gibelli DM, et al. The face in marfan syndrome: A 3D quantitative approach for a better definition of dysmorphic features[J]. Clinical Anatomy (New York, N．Y.), 2018, 31(3): 380-386.
|
| [75] |
Ting BL, Mathur D, Loeys BL, et al. The diagnostic value of the facial features of Marfan syndrome[J]. Journal of Children's Orthopaedics, 2010, 4(6): 545-551.
|
| [76] |
Saksenberg D, Mukherjee S, Zafar MA, et al. Pilot study exploring artificial intelligence for facial-image-based diagnosis of Marfan syndrome[J]. Heliyon, 2024, 10(13): e33858.
|
| [77] |
Beetz NL, Maier C, Shnayien S, et al. Artificial intelligence‐based analysis of body composition in Marfan: skeletal muscle density and psoas muscle index predict aortic enlargement[J]. Journal of Cachexia, Sarcopenia and Muscle, 2021, 12(4): 993-999.
|
| [78] |
Patterson EJ, Bounds AD, Wagner SK, et al. Oculomics: A Crusade Against the Four Horsemen of Chronic Disease[J]. Ophthalmology and Therapy, 2024, 13(6): 1427-1451.
|
| [79] |
Li R, Chen W, Li M, et al. LensAge index as a deep learning-based biological age for self-monitoring the risks of age-related diseases and mortality[J]. Nature Communications, 2023, 14(1): 7126.
|
| [80] |
Lee R, Kumar R, Weaver A, et al. Cornea Oculomics: A Clinical Blueprint for Extending Corneal Diagnostics and Artificial Intelligence in Systemic Health Insights[J]. Diagnostics (Basel, Switzerland), 2025, 15(5): 643.
|
| [81] |
Li Z, Yin S, Wang S, et al. Transformative applications of oculomics-based AI approaches in the management of systemic diseases: A systematic review[J]. Journal of Advanced Research, 2025, 75: 679-696.
|
| [82] |
Ong J, Jang KJ, Baek SJ, et al. Development of oculomics artificial intelligence for cardiovascular risk factors: A case study in fundus oculomics for HbA1c assessment and clinically relevant considerations for clinicians[J]. Asia-Pacific Journal of Ophthalmology (Philadelphia, Pa.), 2024, 13(4): 100095.
|