RESUMO
PURPOSE: To report the surgical success and response to treatment for children undergoing cyclophotocoagulation (CPC) for refractory pediatric glaucoma. METHODS: The medical records of children with a diagnosis of glaucoma who underwent a first CPC between May 2000 and May 2020 were reviewed retrospectively. The cumulative probability of success was assessed. For definition 1, treatment success was defined as IOP ≤21 mm Hg at all the visits after the first 3 months without the need for additional glaucoma surgery or repeat CPC. For definition 2, repeat CPC did not constitute failure. RESULTS: Of 300 eyes that underwent CPC, we identified 262 eyes eligible for inclusion. The mean age at time of first treatment was 5.33 ± 5.03 years, with a mean follow-up of 4.3 ± 4.2 years (31 eyes having at least 10 years of follow-up). The success rates for definitions 1 and 2 were 26.7% (95% CI, 21.7%-32.4%) and 46.2% (95% CI, 40.2%-52.3%), respectively. Older age was associated with a lower risk of failure after both single CPC (HR, 0.92; 95% CI, 0.88-0.96; P < 0.001) and multiple CPCs (HR, 0.95; 95% CI, 0.90-1.00, P = 0.073). Of the 262 eyes, 107 (41%) had sustained IOP-lowering with a single treatment and 56 (21%) with multiple treatments; 35 (13%) had a transient response, and 64 (24%) had no response. CONCLUSIONS: Glaucoma control through CPC often requires multiple treatments, with around a quarter of children responding suboptimally. Older children are more likely to exhibit successful IOP lowering.
Assuntos
Glaucoma , Pressão Intraocular , Criança , Humanos , Adolescente , Lactente , Pré-Escolar , Estudos Retrospectivos , Fotocoagulação a Laser , Glaucoma/cirurgia , Corpo Ciliar/cirurgia , Resultado do Tratamento , SeguimentosRESUMO
Purpose: Heterozygous mutations in OTX2 have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in OTX2 underlying early-onset retinal dystrophy with atypical maculopathy. Methods: Clinical examination included electroretinography and multimodal retinal imaging. Molecular genetic testing was composed of next-generation sequencing of a panel of retinal dystrophy genes. Results: A now 17-year-old boy presented 12 years earlier with a history of progressively poor vision since birth, nyctalopia, and early-onset retinal dystrophy with atypical maculopathy. He also had bilateral microphthalmos and a slim prepubertal appearance; growth hormone levels were within normal ranges. Next-generation sequencing of a retinal dystrophy gene panel revealed a heterozygous deletion c.485delC (p.Pro162G.Infs*24) in exon 5 of OTX2. Conclusions: This second report of maculopathy associated with a heterozygous mutation in OTX2 confirms that mutations in OTX2 should be considered in the differential diagnosis of atypical hereditary maculopathy, with or without rod-cone dystrophy.