Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome

Abstract

PurposeThe aim of the study was to present the long-term anatomical and visual outcomes of retinal detachment repair in patients with Stickler syndrome.Patients and methodsThis study is a retrospective, interventional, consecutive case series of patients with Stickler syndrome undergoing retinal reattachment surgery from 2009 to 2014 at the Associated Retinal Consultants, William Beaumont Hospital.ResultsSixteen eyes from 13 patients were identified. Patients underwent a mean of 3.1 surgical interventions (range: 1–13) with a mean postoperative follow-up of 94 months (range: 5–313 months). Twelve eyes (75%) developed proliferative vitreoretinopathy. Retinal reattachment was achieved in 100% of eyes, with ten eyes (63%) requiring silicone oil tamponade at final follow-up. Mean preoperative visual acuity (VA) was 20/914, which improved to 20/796 at final follow-up (P=0.81). There was a significant correlation between presenting and final VA (P<0.001), and patients with poorer presenting VA were more likely to require silicone oil tamponade at final follow-up (P=0.04).ConclusionRepair of retinal detachment in patients with Stickler syndrome often requires multiple surgeries, and visual outcomes are variable. Presenting VA is significantly predictive of long-term VA outcomes.

Surgical treatment of vitreoretinal complications in a patient with Stickler syndrome type 1: a case report

“…Stickler syndrome is an inherited connective tissue disorder, described for the first time in a family with ocular, auditory, orofacial, and musculoskeletal disorders [3], which occurs as a result of a collagen type II, IX, and XI defect presents in hyaline cartilage and secondary vitreous [5,6]. The oph- The various disease subtypes are caused by a mutation in one of the six genes: COL2A1, COL11A1, COL11A2 -associated with dominant inheritance, and COL9A1, COL9A2, COL9A3 -associated with recessive inheritance [1,2,8].…”

“…The anatomic success rate in the surgical repair of retinal detachments in the pediatric population depends on the etiology, showing rhegmatogenous detachment better results than tractional detachments [11]. However, surgical treatment represents significant challenges in this population given the vitreous's abnormal features, which are firmly adhered to borders of perivascular lattice degenera-tions in these patients [6]. Various procedures have been proposed for treatment and prophylaxis.…”

“…It was first reported in 1965 by Stickler et al [3]. He described ocular findings, auricular, orofacial (isolated or as part of the sequence of Robin), joints changes by defects in collagen type II, IX, and XI [2,[4][5][6]. Its annual incidence is estimated at 1:7.500 to 1:10.000 [5][6][7][8], and it is considered the most frequent cause of non-traumatic retinal detachment in the pediatric population [8].…”

Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders

“…For most physicians evaluating potential patients, suspicion and evaluation for Stickler syndrome should be increased for the following conditions: neonates present with Pierre Robin syndrome or a midline cleft, infants with myopia/deafness/spondyloepiphyseal dysplasia, families with a history of rhegmatogenous retinal detachments, and sporadic cases of retinal detachments [ 101 ]. For treatment, prophylactic laser treatment of the retina has demonstrated a success rate of greater than 75% for preventing retinal detachments [ 118 , 119 ]. There is likely an underreporting of glaucoma due to the paucity of patient reports and studies in the literature [ 120 , 121 ].…”

The importance of early diagnosis of Stickler syndrome: Finding opportunities for preventing blindness

“…Indeed, some remain inoperable, and others while reattached result in no light perception and extreme low vision. [10151718] Currently, a common pathway to blindness remains a chronic, extensive GRT with severe PVR. A dramatic, but regular scenario, is the presentation of GRT in nonverbal children and teenagers with engorged iris vessels, cataract, or inflamed eye.…”