RESUMO
OBJECTIVES: To evaluate the effect of peripheral defocus soft contact lenses (PDSCLs) on controlling myopia progression in children and adolescents, and to compare it with orthokeratology (Ortho-K) and single vision lenses (SVLs). METHODS: We conducted a systematic search of PubMed, the Cochrane Library, Medline, CNKI, CBM, VIP, and WanFang Data databases for randomized controlled trials (RCTs) and cohort studies that investigated the effects of PDSCLs on myopia control in children and adolescents. The published languages were limited to English and Chinese. The risk bias tool provided by the Cochrane risk-of-bias tool and Newcastle-Ottawa Scale were used to assess the risk bias of included studies of RCTs and CTs. The published biases of included studies were assessed by Egger`s test. RESULTS: We included 21 studies, comprising 13 RCTs and 8 cohort studies, with a total of 1337 participants in the PDSCLs group, 428 in the Ortho-K group, and 707 in the SVLs group. The meta-analysis indicated no significant difference between PDSCLs and Ortho-K in controlling the increase of diopter (MD = 0.01, 95% CI: -0.06, 0.09; P = 0.69) and axial length (MD = -0.01, 95% CI: -0.02, 0.00; P = 0.28). Compared with SVLs, PDSCLs had a better effect in controlling the increase of diopter (MD = 0.23, 95% CI: 0.17, 0.28; P < 0.00001) and axial length (MD = -0.11, 95% CI: -0.12, -0.09; P < 0.00001) in children and adolescents. CONCLUSIONS: Children and adolescents wearing PDSCLs can achieve better myopia control than those wearing SVLs, and their effect is comparable to that of Ortho-K.
RESUMO
PURPOSE: Familial nystagmus complicated with cataract and iris anomalies are genetically heterogeneous, and the pathophysiological mechanisms remain unclear. It is anticipated that mutations in the paired box 6 (PAX6) gene play a major role in pathogenesis of malformations in anterior segment of the eye. In this study, we analyzed PAX6 in a Chinese pedigree of nystagmus, cataract and iris anomalies. This study will provide insights into the genetic basis of this disease. METHODS: Complete ophthalmologic examinations were performed on four patients (excluding one dead patient) and four unaffected individuals in this four-generation family. All coding exons of PAX6 were amplified by polymerase chain reaction (PCR), sequenced and compared with reference database. The variations detected were evaluated in available family members as well as 110 normal controls. Possible changes in structure and function of the protein induced by amino acid variance were predicted by bioinformatics analysis. RESULTS: Nystagmus, cataract or iris anomalies were found in all patients of this family, but the severity was different among these patients. A novel missense mutation in PAX6 was identified in all affected individuals but not in asymptomatic members and 110 normal controls. This mutation causes an amino acid substitution of proline to glutamine at position 118 (p.P118Q) of the paired domain of the PAX6 protein. Such a change may cause structural and functional changes of the protein based on bioinformatics analysis. CONCLUSIONS: This study added a novel mutation to the existing spectrum of PAX6 mutations, suggesting that a mutation in PAX6 correlated with anterior segment disorders observed in this family.
Assuntos
Aniridia/genética , Povo Asiático/genética , Catarata/genética , Biologia Computacional , Proteínas do Olho/genética , Proteínas de Homeodomínio/genética , Biologia Molecular , Nistagmo Congênito/genética , Fatores de Transcrição Box Pareados/genética , Proteínas Repressoras/genética , Adulto , Idoso de 80 Anos ou mais , Sequência de Aminoácidos , Aniridia/complicações , Estudos de Casos e Controles , Catarata/complicações , Criança , Análise Mutacional de DNA , Éxons , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Nistagmo Congênito/complicações , Fator de Transcrição PAX6 , Linhagem , Índice de Gravidade de DoençaRESUMO
AIM: To analyze phenotype and genotype of a Chinese pedigree with Avellino corneal dystrophy (ACD). METHODS: Complete ophthalmic examinations were performed on all the family members. Exons of TGFBI were amplified by polymerase chain reaction, sequenced, and compared with a reference database. RESULTS: A single heterozygous G>A (R124H) point mutation was identified in exon 4 of TGFBI in three affected members and two unaffected children who were offsprings of the affected members, but not in the other family members. CONCLUSION: Mutation R124H in TGFBI was identified in this pedigree and appeared to be the disease causing mutation. Atypical phenotype and low penetrance was observed in this pedigree.
