Inverted Internal Limiting Membrane Flap Technique for Repair of Large Macular Holes: A Short-term Follow-up of Anatomical and Functional Outcomes / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Inverted internal limiting membrane (ILM) flap technique has recently been reported in a limited number of studies as an effective surgical technique for the management of large macular holes (MHs) with fair MH closure rates as well as gains in visual acuity. In the current study, longitudinal changes in multi-focal electroretinogram (mfERG) responses, best-corrected visual acuity (BCVA) and spectral-domain optical coherence tomography (SD-OCT) were evaluated in eyes with large MHs managed by this technique.</p><p><b>METHODS</b>A prospective noncontrolled interventional study of eight patients (eight eyes) with large MHs (minimum diameter >400 μm) was conducted. All MHs were treated with pars plana vitrectomy and indocyanine green-assisted inverted ILM flap technique. SD-OCT images were used to assess the anatomical outcomes of surgery while BCVA and mfERG were used to evaluate the functional outcomes during a 3-month follow-up.</p><p><b>RESULTS</b>All patients underwent successful intended manipulation and translocation of the ILM flap without flap dislocation and achieved complete anatomical closure. Partial microstructural reconstruction, demonstrated on SD-OCT as restoration of the external limiting membrane and the ellipsoid zone, was observed in all cases as early as 1 month after surgery. Functionally, as compared to baseline, all patients showed improvements in BCVA and all but one in mfERG response during follow-up. However, Pearson's test revealed no significant correlations between BCVA and mfERG responses of the fovea and of the macular area at each evaluation time point.</p><p><b>CONCLUSIONS</b>Inverted ILM flap technique appears to be a safe and effective approach for the management of large idiopathic MHs with favorable short-term anatomical and functional results. Postoperative reconstruction of the microstructure generally shows good consistency with improvements in both BCVA and mfERG response, of which the latter might be a supplement for the former in postoperative functional follow-up.</p>

Clinical and genetic research in a Chinese family with Stickler syndrome type 1 / 中华实验眼科杂志

Background Stickler syndrome is a genetic connective tissue disorder that affects the ocular,skeletal,orofacial and auditory systems.To determine the gene mutation loci can offer a basis for genetic diagnosis and management of Stickler syndrome.Objective The aim of this study was to research the clinical characteristics of a pedigree with Stickler syndrome and identify the disease-causing gene mutation.Methods This study was approved by Ethic Committee of Peking Union Medical College Hospital.The clinical study and pedigree analysis were performed in one family with Stickler syndrome type Ⅰ (STL Ⅰ).Nine family members were examined with informed consent.The entire coding regions of COL2A1 gene with flanking intronic regions were amplified by PCR and directly sequenced.The detected sequence change was confirmed to be mutationloci by examining whether they existed in normal control individuals.Mutant proteins were predicted with online software.Results There were 4 generations and 11 members in this family,and 2 members died,including 1 patient.Three patients were found in 9living families.Inheritance of this family complicd with an autosomal dominant inheritance mode.All affected individuals showed the consistent phenotypes with STL Ⅰ,including high myopia,membranous vitreous anomaly and surface central flat,short nose,palatoschisis,etc.Mutation screening of COL2A1 gene revealed that the first base of intron 12 was deleted(IVS12+1G del).Nucleotide sequence analysis showed that this mutation led to the functional abnormal of this gene by forming termination cordon in advance.This mutation occurred in all affected individuals,however,no mutation was observed in any unaffected member or 100 normal unrelated individuals.Conclusions This study identifies a novel splice-site mutation(IVS12+ 1G del)in COL2A1 gene in a Chinese STL Ⅰ pedigree.This is the first report on a mutation in a Chinese STL Ⅰ family.

R555W mutation of TGFbetaI related to granular corneal dystrophy in Chinese patients / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Mutations in the transforming growth factor beta I (TGFBI) gene cause several types of autosomal-dominant corneal dystrophies. We investigated the role of this gene in a Chinese family affected by granular corneal dystrophy (GCD).</p><p><b>METHODS</b>Family history and phenotypic data were recorded. The diagnosis of GCD was made on the basis of clinical evaluation. The genomic DNA was extracted from peripheral blood leukocytes. All the exons and flanking intron-exon boundary sequences of TGFbetaI were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing.</p><p><b>RESULTS</b>A heterozygous C to T transition at nucleotide c.1663 (CGG to TGG R555W) of TGFbetaI gene was present in two affected members but was absent in the rest of the family members.</p><p><b>CONCLUSION</b>A recurrent pathogenic R555W of TGFbetaI gene mutation is identified, which appears to be the predominant mutations causing GCD in different populations.</p>