FEVR findings in patients with Loeys-Dietz syndrome type II

ABSTRACT Background: Loeys-Dietz syndrome (LDS) is a connective tissue disorder that has phenotypic overlap with Marfan syndrome. In LDS, the aortic root dissections can be more aggressive and occur at a younger age than Marfan syndrome. Materials and Methods: Review of two cases. Results: A 7-year old boy with history of LDS was found to have a vitreous hemorrhage in the right eye. Further examination showed findings of Familial Exudative Vitreoretinopathy (FEVR). Both eyes were found to have peripheral non-perfusion and neovascularization. A non-related 25-month-old boy with no molecularly confirmed connective tissue disorder was found to have bilateral peripheral non-perfusion and bilateral tractional retinal detachments. The boy was clinically diagnosed with Larsen syndrome, Ehlers-Danlos syndrome kyphoscoliotic form, and Marfan syndrome before presentation. The FEVR lead to consideration of LDS that was molecularly confirmed. Consequently, he was monitored for aortic root dilation. Conclusion: FEVR findings may lead to diagnosis of LDS and patients with LDS may present with proliferative retinopathy.

[1]  H. Dietz,et al.  Loeys-Dietz syndrome. , 2014, Advances in experimental medicine and biology.

[2]  E. Heidari,et al.  Familial exudative vitreoretinopathy , 2020, Definitions.

[3]  C. Zamora,et al.  Loeys-Dietz syndrome. , 2016, Neurology India.

[4]  T. Winter,et al.  Primary peripheral retinal nonperfusion in a family with Loeys-Dietz syndrome. , 2014, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

[5]  M. Trese,et al.  Clinical presentation of familial exudative vitreoretinopathy. , 2011, Ophthalmology.

[6]  B. Loeys,et al.  The Loeys–Dietz syndrome: an update for the clinician , 2010, Current opinion in cardiology.

[7]  Laurence Faivre,et al.  The revised Ghent nosology for the Marfan syndrome , 2010, Journal of Medical Genetics.

[8]  P. Byers,et al.  Aneurysm syndromes caused by mutations in the TGF-beta receptor. , 2006, The New England journal of medicine.

[9]  George H. Thomas,et al.  Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor , 2006 .

[10]  K. Rommel,et al.  TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys‐Dietz syndrome , 2006, Human mutation.

[11]  Wolfram Kress,et al.  A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 , 2005, Nature Genetics.

[12]  B. Loeys.  Chapter 4b – Loeys-Dietz Syndrome , 2017 .

[13]  U. Grossniklaus,et al.  The Arabidopsis thaliana MEDEA Polycomb group protein controls expression of PHERES1 by parental imprinting , 2005, Nature Genetics.