RESUMO
Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease and can occur in the setting of chromosomal aberrations or multisystem malformation syndromes. We report unusual focal bilateral retinal defects in sisters with TOF.
Assuntos
Anormalidades do Olho/diagnóstico , Retina/anormalidades , Tetralogia de Fallot/diagnóstico , Criança , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 12/genética , Feminino , Humanos , Linhagem , Irmãos , Síndrome , Tetralogia de Fallot/genética , Tomografia de Coerência ÓpticaRESUMO
PURPOSE OF REVIEW: To discuss the risks, benefits and value of genetic testing for ocular genetic disease. RECENT FINDINGS: Testing for ocular genetics diseases is becoming more available and successful gene therapy is being reported. Clinicians must prepare for this trend by considering diagnostic genetic testing for their patients. SUMMARY: As advances continually occur in genetic testing for ocular genetic disorders, clinicians must develop an understanding of the potential risks and benefits for their patients.
Assuntos
Oftalmopatias Hereditárias/genética , Doenças Genéticas Inatas/genética , Predisposição Genética para Doença , Testes Genéticos , Análise Custo-Benefício , Aconselhamento Genético , Humanos , Medição de RiscoRESUMO
PURPOSE: To evaluate postoperative alignment in children with and without Down syndrome after surgical correction of esotropia. METHODS: The medical records of consecutive patients with Down syndrome who underwent corrective surgery for esotropia between August 1992 and July 2012 were retrospectively reviewed. Age range for eligibility was between 8 months and 17 years at surgery. The control group comprised randomly selected, age-matched patients without Down syndrome who underwent the same surgical procedure. Postoperative alignment within 10(Δ) of orthotropia at 6 months' follow-up and at the final postoperative visit was considered a successful outcome. RESULTS: A total of 17 children with Down syndrome and 27 control subjects were included. The control group and Down syndrome group did not differ significantly in either postoperative follow-up (5.2 ± 3.2 versus 5.6 ± 5.2 years, respectively) or magnitude of deviation before surgery (40 ± 18.2(Δ) versus 39 ± 12.8(Δ), respectively). Surgical success was achieved in 76% of patients with Down syndrome and in 85% of control patients at 6 months' follow-up. CONCLUSIONS: In this patient cohort, good surgical outcomes were achieved in children with esotropia and Down syndrome compared with those with esotropia but without Down syndrome using the same surgical technique.
