RESUMO
PURPOSE: To report the clinical and functional characteristics of an autosomal dominant retinitis pigmentosa (ADRP) family with a novel point mutation (P2301S) in the PRPF8 gene. METHODS: PRPF8 gene analysis and complete ophthalmologic examination in an ADRP family. RESULTS: Clinical examination revealed the typical RP phenotype in all family members. Electroretinography showed preserved ERG photopic responses. Genetic analysis showed that the P2301S missense mutation segregated with the disease in all subjects. CONCLUSIONS: Unlike previously reported families, the PRPF8 gene mutation in our family is associated with a mild phenotype in which cone function is partially preserved.
Assuntos
Proteínas de Transporte/genética , DNA/genética , Mutação , Retinose Pigmentar/genética , Eletrorretinografia , Feminino , Humanos , Itália , Masculino , Oftalmoscopia , Linhagem , Fenótipo , Proteínas de Ligação a RNA , Retinose Pigmentar/diagnósticoRESUMO
Eighty-eight nonstress tests (NSTs) were obtained on gravid women between 27 and 44 weeks' gestation to compare the results of a three-second acoustic stimulus with a traditional NST. Length of testing time was significantly decreased with the use of acoustic stimulation. Consequently, nursing time and equipment use were also considerably lessened per test. Previous studies indicated that the predictive value of the acoustic stimulation test is comparable or better than the traditional NST.
Assuntos
Estimulação Acústica , Cardiotocografia/normas , Sofrimento Fetal/epidemiologia , Adulto , Cardiotocografia/economia , Cardiotocografia/enfermagem , Análise Custo-Benefício , Estudos de Avaliação como Assunto , Feminino , Sofrimento Fetal/diagnóstico , Humanos , Valor Preditivo dos Testes , Gravidez , Reprodutibilidade dos TestesRESUMO
AIMS: To describe clinical and genetic findings in an Italian family affected by Best disease. METHODS: Five related patients underwent a complete ophthalmological assessment; genetic testing was performed by single-strand conformation polymorphism analysis and direct sequencing of the BEST1 gene. RESULTS: In three of five family members, the sequence analysis of the BEST1 gene revealed a single Phe-to-Leu transition at nucleotide 305 associated with clinical evidence of Best disease. Surprisingly, the electro-oculogram was normal in all affected patients. CONCLUSION: This study reveals a de novo mutation in the BEST1 gene never described before, sustaining the autosomal-dominant pattern of inheritance of the disease. Clinical evaluation showed phenotypic variability between affected members. In addition, these data suggest that a normal electro-oculography (EOG) does not rule out a diagnosis of Best disease, supporting instead the crucial role of molecular analysis.