Ehlers–Danlos syndrome: a case report
M. M. Umanets, O. V. Zborovska, O. E. Dorokhova, M. L. Kogan
SI "The Filatov Institute of Eye Diseases and Tissue Therapy of the NAMS of Ukraine"; Odesa (Ukraine)
Umanets MM, Zborovska OV, Dorokhova OE, Kogan ML. Ehlers–Danlos syndrome: a case report http://doi.org/10.31288/oftalmolzh202225762
Background: Ehlers–Danlos syndrome (EDS) is a rare disease characterized by connective tissue dysplasia, and, consequently, structural changes in ocular tissues. To the best of our knowledge, only 3 cases of surgical treatment with vitrectomy for retinal detachment in EDS have been reported in the literature.
Purpose: To review an approach to medical and surgical treatment for recurrent retinal detachment in a patient with EDS.
Material and Methods: Data on the clinical condition of eyes, examination findings and outcomes of conservative and surgical treatment were reported.
Results: Substantial remnants of the vitreous were found in the periphery during surgical re-examination of the vitreous cavity, and were as much as possible removed with a vitreous cutter. Trypan blue staining of the retina facilitated the removal of the epiretinal membrane covering the whole posterior pole, and the membrane was completely removed with forceps.
Conclusion: We argue for a more differentiated approach to the examination and treatment of patients with Ehlers–Danlos syndrome, because connective tissue dysplasia may mimic another systemic autoimmune disease. Early treatment and adequate treatment strategy enable treatment success for especially severe cases.
Keywords: Ehlers–Danlos syndrome, leptoscleria, retinal detachment, vitrectomy
Conflict of Interest Statement. The authors declare no conflict of interest.
Funding Support. There are no external sources of funding. References
Athor Contribution. A.V. Zborovskaya: conservative treatment of a patient, concept, and editing; A.E. Dorokhova: conservative treatment of a patient; N.N. Umanets: surgical treatment, the idea for the publication and the editing of the article; M.B. Kogan: literature analysis and article formation.
1.Vit VV. [Pathology of the eye, ocular adnexa and orbit]. Vol. 1. Odesa:Astroprint; 2019. Russian.
2.Brady AF, Demirdas S, Fournel-Gigleux S, et al. The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115.
3.McKusick VA. Heritable disorders of connective tissue. 4th ed. St. Louis, MO: CV Mosby; 1972.
4.Villani E, Garoli E, Bassotti A, Magnani F, Tresoldi L, Nucci P, et al. The cornea in classic type Ehlers–Danlos syndrome: macro- and microstructural changes. Invest Ophthalmol Vis Sci. 2013 Dec 11;54(13):8062-8.
5.Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 international classification of the Ehlers–Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26.
6.Perez-Roustit S, Nguyen DT, Xerri O, Robert M, De Vergnes N, Mincheva Z, et al. Ocular manifestations in Ehlers–Danlos Syndromes: clinical study of 21 patients. J Fr Ophtalmol. 2019 Sep;42(7):722-9.
7.Bodanowitz S, Hesse L, Pöstgens H, Kroll P. Retinal detachment in Ehlers–Danlos syndrome. Treatment by pars plana vitrectomy. Ophthalmologe. 1997 Sep;94(9):634-7.
8.Whitlow S, Idrees Z. RD repair using 360-degree scleral graft for extensive scleral ectasia in a patient with Ehlers–Danlos syndrome. Am J Ophthalmol Case Rep. 2019 Sep 13;17:100554.
9.Lumi X, Bergant G, Lumi A, et al. Outcomes of vitrectomy for retinal detachment in a patient with Ehlers–Danlos syndrome type IV: a case report. J Med Case Reports. 2021 May 20;15(1):249.
10.Hernández-Camarena JC, Rodríguez-García A., Valdez-García J. Diagnosis and treatment approach for necrotizing scleritis (NS): a clinical case. Gac Med Mex. Jul-Aug 2015;151(4):525-8.
11.Ashok D, Ayliffe WH, Kiely PDW. Necrotizing scleritis associated with rheumatoid arthritis: long-term remission with high-dose infliximab therapy. Rheumatology (Oxford). 2005 Jul;44(7):950-1.
12.Sainz de la Maza M, Foster CS, Jabbur NS. Scleritis associated with systemic vasculitic diseases. Ophthalmology. 1995 Apr;102(4):687-92..
13.Carmona-Fernandes D, Santos MJ, Canhão H, et al. Anti-ribosomal P protein IgG autoantibodies in patients with systemic lupus erythematosus: diagnostic performance and clinical profile. BMC Med. 2013 Apr 4;11:98.