Surgical treatment of vitreoretinal complications in a patient with Stickler syndrome type 1: a case report
, 1, 1, 1, 2, 3
Abstract
We present the clinical case of an 8-years-old male patient with a genetic diagnosis of Stickler syndrome type 1 and the management of associated vitreoretinal complications. The patient had an antecedent of no light perception in his left eye secondary to retinal detachment treated in another health centre. He consulted with a history of blunt trauma in his head with an unremarkable anterior segment and fundus exam. Scleral indentation showed no lesions to be treated in the right eye. We recommended follow-up every six months. The patient did not come to controls. He was consulted three years later because of visual loss in his right eye. Fundus showed a total retinal detachment secondary to a giant retinal tear of 320º with macular involvement and choroidal detachments. Therefore, scleral buckling, lensectomy, pars plana vitrectomy, inferior retinectomy, endovenous laser treatment (endolaser), and silicone oil tamponade were performed. After six weeks of follow-up, the patient presented an inferior re-detachment with grade C3 vitreoretinal proliferation. A new procedure of silicone oil removal, epiretinal membrane removal, enlargement of inferior retinectomy, endolaser, and silicone oil tamponade was indicated. After 6-months of follow-up, no new retinal detachment was presented, and the best-corrected visual acuity was 20/100.
Keywords: Stickler syndromeretinal detachmentpars plana vitrectomyvitreousgenetics
References
- Snead MP, Yates JR. Clinical and Molecular genetics of Stickler syndrome. J Med Genet. 1999; 36(5): 353–359.
- Robin NH, Moran RT, Ala-Kokko L, et al. Stickler Syndrome. US National Library of Medicine: Gene Reviews. 2020: 1–19.
- Stickler GB, Belau PG, Farrell FJ, et al. Hereditary Progressive Arthro-Ophthalmopathy. Mayo Clin Proc. 1965; 40: 433–455.
- Öztürk C, Sarıgül Sezenöz A, Yılmaz G, et al. Bilateral Asymmetric Rhegmatogenous Retinal Detachment in a Patient with Stickler Syndrome. Turk J Ophthalmol. 2018; 48(2): 95–98.
- Fincham G, Pasea L, Carroll C, et al. Prevention of Retinal Detachment in Stickler Syndrome. Ophthalmology. 2014; 121(8): 1588–1597.
- Reddy DN, Yonekawa Y, Thomas BJ, et al. Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome. Clin Ophthalmol. 2016; 10: 1531–1534.
- Wubben TJ, Branham KH, Besirli CG, et al. Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations. Ophthalmic Genet. 2018; 39(5): 615–618.
- Abeysiri P, Bunce C, da Cruz L. Outcomes of surgery for retinal detachment in patients with Stickler syndrome: a comparison of two sequential 20-year cohorts. Graefes Arch Clin Exp Ophthalmol. 2007; 245(11): 1633–1638.
- Stickler GB, Hughes W, Houchin P. Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey. Genet Med. 2001; 3(3): 192–196.
- Rose PS, Levy HP, Liberfarb RM, et al. Stickler syndrome: clinical characteristics and diagnostic criteria. Am J Med Genet A. 2005; 138A(3): 199–207.
- Ebert JJ, Utz VM, Sisk RA. Bilateral rhegmatogenous retinal detachments from giant retinal tears in an infant with abusive head trauma and Stickler syndrome. Am J Ophthalmol Case Rep. 2020; 17: 100581.
- Rishi P, Maheshwari A, Rishi E. Stickler syndrome. Indian J Ophthalmol. 2015; 63(7): 614–615.
- Coussa RG, Sears J, Traboulsi EI. Stickler syndrome: exploring prophylaxis for retinal detachment. Curr Opin Ophthalmol. 2019; 30(5): 306–313.
- Leiba H, Oliver M, Pollack A. Prophylactic laser photocoagulation in Stickler syndrome. Eye (Lond). 1996; 10 ( Pt 6): 701–708.