RESUMO
BACKGROUND: Stickler syndrome (STL) is an inherited progressive connective tissue collagen disorder. STL is the most common hereditary cause of retinal complications, retinal tears, and the development of retinal detachment (RD) in childhood. The aim of the study was to evaluate the long-term anatomical and functional results of surgical treatment of retinal complications in children and adolescents affected by STL. METHODS: A retrospective, single-center study was performed a cohort of children with STL who underwent retinal surgery between 2004 and 2021. RESULTS: The study group consisted of nine children; the mean age at the time of the retinal tear with/without retinal detachment was 7.2 (2-10) years, and the mean follow-up period was 9.6 (5-16) years. Pathogenic variants COL2A1 (5 children) and COL11A1 (3 children) were confirmed in our cohort. In total, we operated on 13 eyes, 11 eyes with complicated RD and two eyes with multiple retinal defects, but without RD. At the end of the follow-up period, an attached retina was achieved 77% (10 eyes) with or without silicone oil tamponade: cryopexy alone was successful in one eye (10%), scleral buckling (EB) in five eyes (50%), and vitrectomy with silicone oil tamponade combined with EB in four eyes (40%). The mean number of surgeries was 2.3 per eye. The resulting best corrected visual acuity ranged from 0.03 to 0.1 in one eye, from 0.16 to 0.4 in two eyes, and from 0.5 to 1.0 in 7 eyes. CONCLUSION: Repair of retinal tears with/without retinal detachment in patients with Stickler syndrome often requires multiple surgeries with combinations of cryopexy, scleral buckling, and/or vitrectomy with silicone oil tamponade. Treatment of the ocular complications arising from STL requires long-term comprehensive care.
Assuntos
Oftalmopatias Hereditárias , Descolamento Retiniano , Perfurações Retinianas , Humanos , Criança , Adolescente , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/etiologia , Descolamento Retiniano/cirurgia , Perfurações Retinianas/cirurgia , Estudos Retrospectivos , Óleos de Silicone , Retina/patologia , Recurvamento da Esclera , Vitrectomia/métodos , Oftalmopatias Hereditárias/cirurgia , Resultado do TratamentoRESUMO
In retinal detachment (RD), photoreceptor death and permanent vision loss are caused by neurosensory retina separating from the retinal pigment epithelium because of subretinal fluid (SRF), and successful surgical reattachment is not predictive of total visual recovery. As retinal iron overload exacerbates cell death in retinal diseases, we assessed iron as a predictive marker and therapeutic target for RD. In the vitreous and SRF from patients with RD, we measured increased iron and transferrin (TF) saturation that is correlated with poor visual recovery. In ex vivo and in vivo RD models, iron induces immediate necrosis and delayed apoptosis. We demonstrate that TF decreases both apoptosis and necroptosis induced by RD, and using RNA sequencing, pathways mediating the neuroprotective effects of TF are identified. Since toxic iron accumulates in RD, we propose TF supplementation as an adjunctive therapy to surgery for improving the visual outcomes of patients with RD.
Assuntos
Oftalmopatias Hereditárias/metabolismo , Ferro/metabolismo , Ferro/toxicidade , Neuroproteção , Descolamento Retiniano/metabolismo , Transferrina/metabolismo , Idoso , Animais , Apoptose/efeitos dos fármacos , Modelos Animais de Doenças , Oftalmopatias Hereditárias/cirurgia , Feminino , Humanos , Ferro/farmacologia , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Transgênicos , Pessoa de Meia-Idade , Necrose , Células Fotorreceptoras de Vertebrados/metabolismo , Ratos , Ratos Long-Evans , Ratos Wistar , Retina/metabolismo , Descolamento Retiniano/cirurgia , Epitélio Pigmentado da Retina/metabolismo , Líquido Sub-Retiniano/metabolismo , Transferrina/genéticaRESUMO
Hereditary vitreous degeneration muddy is rare in clinic. Here we report ten cases (thirteen eyes) of hereditary vitreous degeneration muddy from two families. All patients presented with vitreous opacity, and the textures appeared tough and tensile. Two cases had concurrent detachment of rhegmatogenous retina. HE staining showed red changeableness, and methyl violet staining appeared purple. All patients received vitrectomy with traditional Chinese medicine treatment, and got satisfactory efficacy.