Rosai–Dorfman disease (RDD) is rare and characterized by histiocytic proliferation and massive cervical lymphadenopathy. About 40% of patients have extra-nodal involvement. Opthalmic involvement is seen in 10% of cases. A case of orbital Rosai Dorfman disease in a 58 years old woman is presented here, who was misdiagnosed as orbital inflammatory disease initially. The patient did not respond to a course of oral prednisolone. Then complete surgical excision of the mass was performed and the histopathological examination was consistent with a diagnosis of RDD.
Orbital Inflammation; Rosai–Dorfman disease
Objective: To evaluate tear film stability and tear secretion in patients with diabetes after phacoemulsification. Methods: Twenty-five diabetic cataract patients and 20 age-matched non-diabetic cataract patients as control underwent phacoemulsification. Tear film break-up time (TFBUT), Schirmer I test (SIT), corneal fluorescein staining, and dry eye symptoms were measured pre- and postoperatively. Results: Diabetics had a decreased preoperative TFBUT and SIT. TFBUT was reduced on Day 1 and recovered on Day 180 postoperatively in both groups. SIT was increased after phacoemulsification, but returned to preoperative levels by Day 180 in non-diabetics, whereas it was lower than preoperative level in diabetics. Positive corneal fluorescein staining was elevated in both groups, and returned to preoperative levels only in controls. Dry eye symptoms were similar to fluorescein staining in both groups. Conclusion: Tear secretion was reduced in diabetic cataract patients after phacoemulsification, which worsened dry eye symptoms and predisposed those patients to ocular damage.
Phacoemulsification; Diabetes; Cataract; Tear
Objective: Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital nuclear cataracts, dental anomalies, and craniofacial dysmorphisms. Mental retardation was present in about 30% of the reported cases. The purpose of this study was to investigate the genetic and clinical features of NHS in a Chinese family. Methods: Whole exome sequencing analysis was performed on DNA from an affected male to scan for candidate mutations on the X-chromosome. Sanger sequencing was used to verify these candidate mutations in the whole family. Clinical and ophthalmological examinations were performed on all members of the family. Results: A combination of exome sequencing and Sanger sequencing revealed a nonsense mutation c.322G>T (E108X) in exon 1 of NHS gene, co-segregating with the disease in the family. The nonsense mutation led to the conversion of glutamic acid to a stop codon (E108X), resulting in truncation of the NHS protein. Multiple sequence alignments showed that codon 108, where the mutation (c.322G>T) occurred, was located within a phylogenetically conserved region. The clinical features in all affected males and female carriers are described in detail. Conclusions: We report a nonsense mutation c.322G>T (E108X) in a Chinese family with NHS. Our findings broaden the spectrum of NHS mutations and provide molecular insight into future NHS clinical genetic diagnosis.
Nance-Horan syndrome (NHS); Exome sequencing; X-linked disorder
To investigate the efficacy of non-buckled vitrectomy with classical endotamponade agents in the treatment of primary retinal detachment (RD) complicated by inferior breaks and proliferative vitreoretinophathy (PVR).
A retrospective, consecutive and case series study of 40 patients with inferior break RD and PVR ≥C1 was conducted. All patients underwent a standard 3-port 20-gauge pars plana vitrectomy (PPV) with gas or silicone oil tamponade without supplementary scleral buckling. The vitreous and all proliferative membrane were completely removed, and retinectomy was performed when necessary. The mean follow-up was 12.5 months. The primary and final anatomic success rate, visual acuity and complications were recorded and analyzed.
Primary anatomic success rate was achieved in 35 of 40 eyes (87.5%) and the final anatomic success rate was 100%. The most common cause of redetachment was recurrent PVR. The best-corrected visual acuity (BCVA) at final follow-up was improved in 34 eyes (85%), remained stable in 1 eye (2.5%), and worsened in 5 eyes (12.5%). The mean visual acuity at final follow-up was improved significantly (P=0.000).
This retrospective study provides evidence that vitrectomy without scleral buckling seemed to be an effective treatment for inferior break RD with PVR. With complete removal of vitreous and proliferative membranes and timing of retinectomy, the inferior breaks which complicated with PVR could be closed successfully without additional scleral buckling.
retinal detachment; inferior retinal break; proliferative vitreoretinophathy; vitrectomy
The UMODL1 gene was found to be associated with high myopia in Japanese. This study aimed to investigate this gene for association with high myopia in Chinese.
Two groups of unrelated Han Chinese from Hong Kong were recruited using the same criteria: Sample Set 1 comprising 356 controls (spherical equivalent, SE, within ±1 diopter or D) and 356 cases (SE ≤ −8D), and Sample Set 2 comprising 394 controls and 526 cases. Fifty-nine tag single nucleotide polymorphisms (SNPs) were selected and genotyped for Sample Set 1. Four SNPs were followed up with Sample Set 2. Both single-marker and haplotype analyses were performed with cases defined by different SE thresholds. Secondary phenotypes were also analyzed for association with genotypes.
Data filtering left 57 SNPs for analysis. Single-marker analysis did not reveal any significant differences between cases and controls in the initial study. However, haplotype GCT for markers rs220168-rs220170-rs11911271 showed marginal significance (empirical P = 0.076; SE ≤ −12D for cases), but could not be replicated in the follow-up study. In contrast, non-synonymous SNP rs3819142 was associated with high myopia (SE ≤ −10D) in the follow-up study, but could not be confirmed using Sample Set 1. The SNP rs2839471, positive in the original Japanese study, gave negative results in all our analyses. Exploratory analysis of secondary phenotypes indicated that allele C of rs220120 was associated with anterior chamber depth (adjusted P = 0.0460).
Common UMODL1 polymorphisms were unlikely to be important in the genetic susceptibility to high myopia in Han Chinese.
High myopia; UMODL1; Single nucleotide polymorphism; Association study; Secondary phenotype
The paired box 6 (PAX6) gene is considered as a master gene for eye development. Linkage of myopia to the PAX6 region on chromosome 11p13 was shown in several studies, but the results for association between myopia and PAX6 were inconsistent so far.
We genotyped 16 single nucleotide polymorphisms (SNPs) in the PAX6 gene and its regulatory regions in an initial study for 300 high myopia cases and 300 controls (Group 1), and successfully replicated the positive results with another independent group of 299 high myopia cases and 299 controls (Group 2). Five SNPs were genotyped in the replication study. The spherical equivalent of subjects with high myopia was ≤−8.0 dioptres. The PLINK package was used for genetic data analysis. No association was found between each of the SNPs and high myopia. However, exhaustive sliding-window haplotype analysis highlighted an important role for rs12421026 because haplotypes containing this SNP were found to be associated with high myopia. The most significant results were given by the 4-SNP haplotype window consisting of rs2071754, rs3026393, rs1506 and rs12421026 (P = 3.54×10−10, 4.06×10−11 and 1.56×10−18 for Group 1, Group 2 and Combined Group, respectively) and the 3-SNP haplotype window composed of rs3026393, rs1506 and rs12421026 (P = 5.48×10−10, 7.93×10−12 and 6.28×10−23 for the three respective groups). The results remained significant after correction for multiple comparisons by permutations. The associated haplotyes found in a previous study were also successfully replicated in this study.
PAX6 haplotypes are associated with susceptibility to the development of high myopia in Chinese. The PAX6 locus plays a role in high myopia.
In this paper, we report the clinical and molecular features of the distinct TGFBI (human transforming growth factor β-induced, OMIM No. 601692) gene-linked corneal dystrophy. Altogether, five pedigrees and ten unrelated individuals diagnosed as corneal dystrophy were recruited. Peripheral venous DNA was extracted, and then amplified by polymerase chain reaction (PCR) and scanned for mutation by single-stranded conformation polymorphism (SSCP). Direct DNA sequencing was used to analyze the mutations of the TGFBI gene. In our study, thirty patients from five pedigrees and ten sporadic patients were diagnosed as four TGFBI gene-linked corneal dystrophies of granular corneal dystrophy type I (GGCD I), Avellino corneal dystrophy (ACD), lattice corneal dystrophy type I (LCD I), and lattice corneal dystrophy type IIIA (LCD IIIA), and in total, seven disease-causing mutations, namely R555W, A546D, A546T, and T538P mutations in exon 12, R124H and R124C mutations in exon 4, and P501T mutation in exon 11, were identified, while four polymorphisms of V327V, L472L, F540F, and 1665–1666insC were screened in exons 8, 11, and 12. The study ascertained the tight genotype-phenotype relationship and confirmed the clinical and genetic features of four TGFBI gene-linked corneal dystrophies.
TGFBI gene; Corneal dystrophy; Genotype; Phenotype; Mutation
Objective: Leber’s hereditary optic neuropathy (LHON) is a maternally inherited degeneration of the optic nerve caused by point mutations of mitochondrial DNA (mtDNA). Many unsolved questions regarding the penetrance and pathophysiological mechanism of LHON demand efficient and reliable mutation testing. This study aims to develop a minor groove binder (MGB) probe assay for rapid detection of mtDNA11778 mutation and heteroplasmy in Chinese LHON patients by real-time polymerase chain reaction (PCR). Methods: Forty-eight patients suspected of having LHON and their maternal relatives underwent a molecular genetic evaluation, with 20 normal individuals as a control group at the same time. A real-time PCR involving two MGB probes was used to detect the mtDNA11778 mutation and heteroplasmy. A linear standard curve was obtained by pUCmLHONG and pUCmLHONA clones. Results: All 48 LHON patients and their maternal relatives were positive for mtDNA11778 mutation in our assay, 27 heteroplasmic and 21 homoplasmic. Eighteen cases did not show an occurrence of the disease, while 9 developed the disease among the 27 heteroplasmic mutation cases. Eleven did not show an occurrence of the disease, while 10 cases developed the disease among 21 homoplasmic mutation cases. There was a significant difference in the incidence between the heteroplasmic and the homoplasmic mutation types. The time needed for running a real-time PCR assay was only 80 min. Conclusion: This real-time PCR assay is a rapid, reliable method for mtDNA mutation detection as well as heteroplasmy quantification. Detecting this ratio is very important for predicting phenotypic expression of unaffected carriers.
Leber’s hereditary optic neuropathy (LHON); Mitochondrial DNA (mtDNA); MtDNA11778 mutation; Minor groove binder (MGB) probe; Real-time polymerase chain reaction (PCR)
Objective: To investigate the time and postoperative binocular vision of strabismus surgery for children with intermittent exotropia (X(T)). Methods: A retrospective investigation was conducted in 80 child patients with intermittent exotropia. Pre- and postoperative angles of deviation fixating at near (33 cm) and distant targets (6 m) were measured with the prolonged alternate cover testing. The binocular function was assessed with synoptophore. Twenty-one patients took the postoperative synoptophore exercise. Results: (1) A week after surgery, 96.2% of the 80 patients had binocular normotopia, while a year after surgery, 91.3% of the 80 patients had binocular normotopia; (2) Preoperatively, 58 patients had near stereoacuity, while postoperatively, 72 patients achieved near stereoacuity (P<0.05); (3) Preoperatively, 64 patients had Grade I for the synoptophore evaluation and postoperatively, 76 patients achieved Grade I. Meanwhile, 55 patients had Grade II preoperatively and 72 achieved Grade II postoperatively. For Grade III, there were 49 patients preoperatively and 64 patients postoperatively (P<0.05); (4) Patients of 5~8 years old had a significantly better recovery rate of binocular vision than those of 9~18 years old (P<0.05); (5) Patients taking postoperative synoptophore exercise had a better binocular vision than those taking no exercise (P<0.05). Conclusions: (1) Strabismus surgery can help to preserve or restore the binocular vision for intermittent exotropia; (2) Receiving the surgery at young ages may develop better postoperative binocular vision; (3) The postoperative synoptophore exercise can help to restore the binocular vision.
Intermittent exotropia (X(T)); Surgery; Binocular vision
Objective: To evaluate the effect of topical corticosteroid for treatment of moderate or severe dry eye. Methods: Sixty eyes of 30 patients with moderate or severe dry eye, who were not sensitive to artificial tears, were treated with 0.1% fluorometholone eye drops. Subjective symptom and objective tests were used to evaluate the efficacy of treatment before and after application of 0.1% fluorometholone eye drops for 1 week and 1 month. Side effects were also evaluated. Results: After 1 week of treatment, subjective symptoms were improved in all dry eye patients; objective tests were improved in all dry eye patients 1 month after treatment, and the difference was significant. Conclusion: Topical corticosteroid drops can rapidly and effectively relieve the symptoms and signs of moderate or severe dry eye.
Dry eye; Treatment; Corticosteroids