The greatest concern in children with cataracts is irreversible visual loss.The timing of congenital cataract surgery is critical for the visual rehabilitation.Cataract surgery in children remains complex and challeng...The greatest concern in children with cataracts is irreversible visual loss.The timing of congenital cataract surgery is critical for the visual rehabilitation.Cataract surgery in children remains complex and challenging.The incidence of complications during or after operation is higher in children than adults.Some complications could be avoided by meticulous attention to surgical technique and postoperative care,and others were caused by more exuberant inflammatory response associated with surgery on an immature eye or the intrinsic eyes abnormalities.Utilizing of advanced techniques and timely applying topical corticosteroids and cycloplegic agents can reduce the occurrence of visual axis opacification.Operation on children with strabismus or nystagmus,and applying occlusion therapy on amblyopic eyes can balance the visual inputs to the two eyes.Diagnosis of glaucoma following congenital cataract surgery requires lifelong surveillance and continuous assessment of the problem.So cataract surgeries in children are not the end of journey,but one step on the long road to visual rehabilitation.This paper describes recent evidence from the literature regarding the advance of management after congenital cataract surgery.展开更多
This study was aimed to identify the mutation of the whole coding region of shock transcription factor 4（HSF4） gene in a Chinese family with autosomal dominant congenital cataract（ADCC）. All exons of HSF4 were amp...This study was aimed to identify the mutation of the whole coding region of shock transcription factor 4（HSF4） gene in a Chinese family with autosomal dominant congenital cataract（ADCC）. All exons of HSF4 were amplified by PCR. Sequence analysis of PCR products was performed. Restriction fragment length polymorphism（RFLP） analysis was conducted to confirm the pathogenic mutation. The results showed that a C to T substitution occurred at nucleotide 331 in patients of this family, leading to the replacement of the amino acid arginine-111 with cysteine in exon 3. RFLP analysis showed that the amino acid change was co-segregated with all affected individuals. It was concluded that the new mutation of c.331C〉T in HSF4 DNA may be responsible for the autosomal dominant congenital cataract in this family.展开更多
文摘The greatest concern in children with cataracts is irreversible visual loss.The timing of congenital cataract surgery is critical for the visual rehabilitation.Cataract surgery in children remains complex and challenging.The incidence of complications during or after operation is higher in children than adults.Some complications could be avoided by meticulous attention to surgical technique and postoperative care,and others were caused by more exuberant inflammatory response associated with surgery on an immature eye or the intrinsic eyes abnormalities.Utilizing of advanced techniques and timely applying topical corticosteroids and cycloplegic agents can reduce the occurrence of visual axis opacification.Operation on children with strabismus or nystagmus,and applying occlusion therapy on amblyopic eyes can balance the visual inputs to the two eyes.Diagnosis of glaucoma following congenital cataract surgery requires lifelong surveillance and continuous assessment of the problem.So cataract surgeries in children are not the end of journey,but one step on the long road to visual rehabilitation.This paper describes recent evidence from the literature regarding the advance of management after congenital cataract surgery.
基金supported by grants from the National Natural Science Foundation of China(No.81371064 and No.J1103514)
文摘This study was aimed to identify the mutation of the whole coding region of shock transcription factor 4（HSF4） gene in a Chinese family with autosomal dominant congenital cataract（ADCC）. All exons of HSF4 were amplified by PCR. Sequence analysis of PCR products was performed. Restriction fragment length polymorphism（RFLP） analysis was conducted to confirm the pathogenic mutation. The results showed that a C to T substitution occurred at nucleotide 331 in patients of this family, leading to the replacement of the amino acid arginine-111 with cysteine in exon 3. RFLP analysis showed that the amino acid change was co-segregated with all affected individuals. It was concluded that the new mutation of c.331C〉T in HSF4 DNA may be responsible for the autosomal dominant congenital cataract in this family.
