Vitreoretinal Dystrophies

Shuler, Magdalena F.; Sullivan, Jack; Hurley, Bernard; McNamara, J. Arch

doi:10.1007/978-3-642-12041-1_13

Cited by 5 publications

(3 citation statements)

References 68 publications

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“… 6 These vitreoretinal changes predispose patients to the development of giant retinal tears (GRTs) and associated rhegmatogenous retinal detachments (RRD) relatively early in life, often in the second and third decades of life. 4 , 6 , 7 Stickler syndrome is the most common inherited cause of RRD, in spite of its low incidence overall. 8 …”

Section: Introductionmentioning

confidence: 99%

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

Reddy¹,

Yonekawa²,

Thomas³

et al. 2016

OPTH

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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.

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Section: Introductionmentioning

confidence: 99%

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

Reddy¹,

Yonekawa²,

Thomas³

et al. 2016

OPTH

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“…Familial exudative vitreoretinopathy (FEVR) is an inheritable disorder of retinal blood vessel development that leads to the incomplete vascularization of the retina and poor vascular differentiation 11 . This condition was first described by Criswick and Schepens in 1969 12 .…”

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confidence: 99%

Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis

Fei

et al. 2016

Sci Rep

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KIF11 gene mutations cause a rare autosomal dominant inheritable disease called microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR). Recently, such mutations were also found to be associated with familial exudative vitreoretinopathy (FEVR). Here, we report 7 novel KIF11 mutations identified by targeted gene capture in a cohort of 142 probands with FEVR who were diagnosed in our clinic between March 2015 and November 2015. These mutations were: p.L171V, c.790-2A>C, p.Q525*, p.Q842*, p.S936*, p.L983fs and p.R1025G. Phenotypic analysis revealed that all of the affected probands had advanced FEVR (stage 4 or above). Three had microcephaly, and one had chorioretinopathy, which indicated a phenotypic overlap with MCLMR. Two mutations were also found in the families of the affected probands. One parent with a p.R1025G mutation had an avascular peripheral retina and abnormal looping vessels. However, one parent with p.L983fs had normal retina, which indicated incomplete penetration of the genotype. Our results further confirmed that KIF11 is causative of FEVR in an autosomal dominant manner. We also suggest the examination of MCLMR-like features, such as microcephaly, chorioretinopathy, for patients with FEVR and wide-field fundus photography for patients with MCLMR in future practice.

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“…These vitreoretinal changes cause giant retinal tears and subsequent rhegmatogenous retinal detachment. 7 , 8 Although it is a rare condition, Stickler syndrome is the most common hereditary cause of rhegmatogenous retinal detachment. 9 In a study from Turkey by Yararcan et al 10 including 6 individuals with Stickler syndrome in a single family, all of the patients had myopia of 10 diopters or greater, early onset cataract, chorioretinal atrophy, and vitreous liquefaction.…”

Section: Discussionmentioning

confidence: 99%

Bilateral Asymmetric Rhegmatogenous Retinal Detachment in a Patient with Stickler Syndrome

Öztürk

Sezenöz²,

Yılmaz

et al. 2018

tjo

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Here we present the long-term anatomical and visual outcomes of bilateral asymmetric rhegmatogenous retinal detachment repair in a patient with Stickler syndrome. A 17-year-old girl presented with decreased visual acuity in both eyes for more than one year. Her best-corrected visual acuity (BCVA) was 0.1 in the right eye and 0.05 in the left eye. Slit-lamp anterior segment examination revealed subcapsular cataract in both eyes. Fundus examination showed bilateral rhegmatogenous retinal detachment, chronic retinal detachment accompanied by multiple retinal holes, tears and membranous fibrillary vitreous in the peripheral retina. Grade C2 proliferative vitreoretinopathy was observed in the left eye. Scleral buckling surgery was performed initially for both eyes. After the primary surgical procedure, retinal reattachment was achieved in the right eye and the left eye underwent phacoemulsification, intraocular lens implantation, pars plana vitrectomy (PPV), and silicone oil injection. After these surgical procedures retinal reattachment was achieved in the left eye. Silicone oil removal was performed six months after PPV surgery. After surgical treatment, BCVA was 0.6 in the right eye at the end of the 3.5-year follow-up period. After silicone oil removal, BCVA reached 0.2 in the left eye after 36 months of follow-up and retinal reattachment was achieved in both eyes. Scleral buckling surgery and PPV are effective and confidential methods for the treatment of chronic retinal detachment cases in Stickler syndrome.

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Vitreoretinal Dystrophies

Cited by 5 publications

References 68 publications

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

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

Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis

Bilateral Asymmetric Rhegmatogenous Retinal Detachment in a Patient with Stickler Syndrome

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