Chinese family with atypical granular corneal dystrophy type I caused by the typical R555W mutation in TGFBI

·AIM: To investigate the clinical features and genetic defects in four generations of a Chinese family affected with atypical granular corneal dystrophy type I (GCD type I). · METHODS: Family history and clinical data were recorded. Genomic DNA samples were obtained from peripheral blood leukocytes of all participated. Exons of the transforming growth factor-β-induced (TGFBI) gene were directly sequenced after being amplified by polymerase chain reaction (PCR), and multi-point linkage analysis using microsatellite makers flanking the gene was applied to identify the disease-causing mutation. · RESULTS: Clinical features were quite variable in patients, some patients only had opacities in the epithelium, and others revealed multiple bilateral circular, discrete, crumb -like opacities mainly in the epithelium, with several in different depths of corneal stroma, and the performance was different bilaterally, even in the same patient. Directly nucleotide sequencing revealed a heterozygous p.R555W mutation in the coding sequence of the TGFBI gene in all affected individuals of the family, but was not found in all unaffected. The maximum logarithm of odds (LOD) score obtained by multi -point analysis was detected at marker locus D5S393 (LOD = 2.740; α=1.000). ·CONCLUSION: Our case presented with clinical futures and the pathogenic mutations in TGFBI gene, the phenotype of the pedigree was quite different from typical GCD type I, so we suggested that this phenotype was a variant of GCD type I. These findings expand the knowledge about GCD type I, and demonstrate that molecular genetic analysis is important to make an accurate diagnosis of patients with variable corneal dystrophies in clinic.

A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family

AIM:To identify the genetic defect in a Chinese family with bilateral progressive childhood posterior cataract. METHODS:A two-generation family was recruited in this study. Family history and clinical data were recorded. All reported candidate genes associated with congenital posterior cataract were screened by direct DNA sequencing. ·RESULTS:All affected individuals presented posterior opacities in the lens. Direct sequencing of the candidate genes showed a heterozygous c. 2668C 】T variation in EPHA2 gene, which resulted in the replacement of arginine by cysteine at codon 890 (p. R890C). This mutation was found in two affected individuals, but was not observed in 200 normal controls. ·CONCLUSION:We report a novel mutation (p. R890C) in the EPHA2 receptor tyrosine kinase gene. The finding expands the mutation spectrum of EPHA2 in association with posterior cataract.

Electron microscopic investigation of anterior lens capsule in an individual with true exfoliation

AIMTo determine the changes which occur in the anterior capsule in true exfoliation which is a very rare condition.

Ocular findings in syndromic gingival fibromatosis: a case study and electronic microscopic investigation of lens

We report a case of syndromic gingival fibromatosis with notable ocular lesions,bilateral congenital cataracts,esotropia,and high myopia of a 21-year-old male patient from China.The patient was diagnosed with gingival fibromatosis based on his massive gingival overgrowth and histological findings that were consistent with gingival fibromatosis through a gingival biopsy.Lens opacity features were presented and phacoemulsificaion with intraocular lens(IOL)implantation was performed to manage the cataracts in both eyes.Transmission electronic microscopy was used to investigate the ultrastructure of the removed lens tissue.We also review the literature on gingival fibromatosis and briefly summarize the ocular manifestations of this rare disease.

Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus

Objective:To screen mutations in FERM domain-containing protein 7(FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus(XLICN).Methods:Common ophthalmic data and peripheral blood of two Chinese XLICN families(families A and B) were collected after informed consent.Genomic DNA was prepared from the peripheral blood of members of the two families and from 100 normal controls.Mutations in the FRMD7 gene were determined by directly sequencing polymerase chain reaction(PCR) products.Results:We identified a novel mutation c.980_983delATTA compound with c.986C>A mutation in the 11th exon of FRMD7 in family B,and a previously reported splicing mutation c.782G>C(p.R261G) in family A.The mutations were detected in patients and female carriers,while they were absent in other relatives or in the 100 normal controls.Conclusions:Our results expand the spectrum of FRMD7 mutations in association with XLICN,and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN.

Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome

研究目的:对1个Axenfeld-Rieger综合征家系的临床特点及基因突变进行研究,探索Axenfeld-Rieger综合征发病的遗传机制。研究方法:对该Axenfeld-Rieger综合征家系进行全面临床检查,对家系成员应用聚合酶链反应(PCR)扩增PITX2基因和FOXC1基因的所有外显子及相邻内含子,对其产物进行直接测序并对PITX2基因第5个外显子进行克隆测序。选取100名健康者作为对照组,应用PCR扩增PITX2基因第5个外显子并进行直接测序。应用SWISS-MODEL软件对野生型和突变型的PITX2蛋白同源域进行建模分析。重要结论:该Axenfeld-Rieger综合征家系的眼部表型多样,但是各患者的全身系统异常却呈现一致性(见图2;表1)。基因测序结果显示先证者及其他患者均具有PITX2基因杂合突变c.198_201delins TTTCT(p.M66Ifs*133)。尽管PITX2基因突变引起Axenfeld-Rieger综合征已经被广泛证实,但是PITX2基因缺失/插入移码突变引起的Axenfeld-Rieger综合征仅被报道过一次,我们的研究首次在中国人群中揭示了这种罕见的突变方式。

Distribution of multiple chalazia in eyelids of pediatrics requiring surgery in southeast China:a hospital-based cross-sectional study

Background Multiple chalazia are common in children,and many are treated by surgery.However,the distribution of different types of multiple chalazia has not been studied.This research aimed to investigate the location and number of multiple chalazia in pediatrics who need surgical treatments.Methods Patients with multiple chalazia treated by incision and curettage surgery(I&C)in a tertiary children’s hospital between June and December 2016 were reviewed.Demographic data,locations,and numbers of chalazia were recorded.Data were analyzed using generalized linear models of the counts and the occurrences of chalazia.Hypotheses were tested using likelihood ratio tests appropriate for each type of data.Results The study included 128 subjects,most of which were 1-3 years old.The majority of patients had bilateral chalazia(95.3%),and the proportions of patients with internal,external,and marginal chalazion differed dramatically(99.2%,61.7%,and 2.3%,respectively).The number of internal and external chalazia did not vary significantly with gender,age,or residence of the patients.Internal chalazia were located more frequently in the upper lids(p<0.001).External chalazia showed no preference of localization.The average number of internal chalazia in each eyelid did not relate to the presence of external chalazia.Conclusions Multiple chalazia are common among younger children in southeast China.The anatomical distribution varies depending on the type of chalazion.Multiple chalazia often occur bilaterally and internally.If doctors are more aware of the anatomical distribution of chalazia,this might result in a higher success rate of I&C.