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Purpose: To investigate the association of interleukin (IL)-6 with proliferative diabetic retinopathy (PDR) of type 2 diabetes (T2D) in a Chinese population. Methods: Two subtypes of the IL-6 promoter (-174 and -572 G/C) were genotyped in 215 T2D patients with PDR and 207 T2D patients with a normal retinal function (controls) using the PCR-RFLP method. The mRNA and protein expression of IL-6 was examined by real-time PCR. Results: T2D patients with PDR had a significantly higher frequency of IL-6 -174 GC (OR 0.58; 95% CI 0.34-0.99; p = 0.011) and IL-6 -572 GG (OR 0.53; 95% CI 0.24-1.14; p = 0.016) than T2D controls. The mRNA expressions of the rs1800795 GC and rs1800796 GG genotype were significantly increased compared to other cases (Fsig = 0.002, p = 0.001, respectively), followed by a relative increase in IL-6 in protein. Conclusions: IL-6 genotypes of rs1800795 GC and rs1800796 GG might point to a relatively high risk for T2D patients suffering from PDR in a Chinese population and they were associated with elevation of IL-6 expression in both mRNA and protein.

Choroideremia is a bilateral and progressive X-linked inherited disease characterized by widespread chorioretinal atrophy with relative sparing of the macular region. It is caused by mutations in the ubiquitously expressed CHM gene, which lead to the absence of the Rab escort protein 1 (REP-1), resulting in prenylation deficiency. Typical fundus appearances for choroideremia were found in 3 probands from three unrelated Chinese families in our study. We firstly used the targeted exome sequencing (TES) technology to detect mutations in CHM gene. Based on an established filtering strategy of data analyses, along with confirmation by co-segregation, a previously reported mutation (c.1584_1587del TGTT, p.V529Hfs*7) was identified in one family, while two novel mutations (c.227_232delinsTGTCATTTCA, p.Q76Lfs*7; c.710dupA, p.Y237_S238delinsX) were identified in the other two families. These findings not only expands the currently limited spectrum of Chinese disease-causing variants in CHM gene, but also increases our understanding of the phenotypic and genotypic correlations of choroideremia, and may potentially lead to improved genetic counseling and specific treatment for families with choroideremia as well.

Retinitis pigmentosa (RP) is an inherited retinopathy, which affects the photoreceptors in the retina. Lysophosphatidylcholine acyltransferase (LPCAT) is a critical phospholipid biosynthesis enzyme, which promotes the conversion of lysophosphatidylcholine into phosphatidylcholine in the remodeling pathway of PC biosynthesis. A previous study reported a homozygous insertion in the LPCAT1 gene in mice exhibiting retinal degeneration (rd11). However, whether genetic mutations in LPCAT1 predispose individuals to RP remains to be elucidated. Therefore, the aim of the present study was to investigate whether LPCAT1 mutations exist in patients with RP. A total of 50 unrelated patients diagnosed with either a sporadic or recessive inheritance pattern of RP were recruited in the present study. All of the patients were comprehensively screened for genes associated with the predisposition of RP, and no pathogenic mutations were identified. Reverse transcription-polymerase chain reaction and Sanger sequencing were performed to investigate the coding regions and exon‑intron boundaries of the LPCAT1 gene in the recruited patients. In total, three genetic variations in the coding regions, which lead to amino acid changes, were identified. Although two of these mutations were predicted to be pathogenic, co‑segregation analysis in the pedigrees excluded these as disease‑causing mutations. In addition, the LPCAT1 gene was screen in a panel of RP patients who exhibited no identifiable mutations in any of the known RP‑associated genes. No disease‑causing mutations in the LPCAT1 gene were identified, indicating that LPCAT1 either does not confer a genetic predisposition to RP, or that the incidence of mutations in LPCAT1 is particularly rare in patients with RP.

To explore the clinical safety and efficacy of deep lamellar keratoplasty for corneal macula after viral keratitis.A total of 16 patients (16 eyes) of corneal macula after viral keratitis at our center from January 2009 to June 2011 received anti-virus eye-drops and then underwent deep lamellar keratoplasty when inflammation were dissolved or quiescent. And the corneal graft diaphaneity and corneal graft rejection reactions were observed.All 16 patients were recovered with a success rate of 100%. After a follow-up of 18-24 months, all corneal grafts were transparent and best-corrected visual acuity was 0.2-0.6. There was no reoccurrence during the follow-up period. After a follow-up of several months, 2 of them had rejection reaction and were controlled after treatment. No rejection reaction occurred during the long-term follow-up.As a safe and efficacious procedure, deep lamellar keratoplasty can significantly raise vision acuity with few complications.

To investigate the visual functional therapeutic effects of deep lamellar keratoplasty (DLK) and penetrating keratoplasty (PK) on perforated fungal keratitis.64 patients (64 eyes) of fungal corneal ulcer in Ophthalmology Center of Ningbo Yinzhou People Hospital from 2004 to 2009 were retrospected, of which undergo DLK (36 patients, 36 eyes) and PK (28 patients, 28 eyes), and followed up by 12 to 24 months. Check two sets of patients' VA and refraction before operation, and analyze the best-corrected visual acuity (BCVA), corneal refraction changes, corneal endothelium counting and complications, using χ(2) test and t-test.The BCVA after the operation of two sets are both improved, 32 eyes of DLK set were above 0.4, 19 eyes of PK set were above 0.4, of which the DKL set is a bit better than PK set (χ(2) = 4.304, P0.05). The astigmatism of DLK set is smaller than the PK set after operation, and there is significant difference (χ(2) = 4.98, P0.05). The astigmatism of two sets on the average were all no more than 5.00 D. The reject reaction of keratoplasty of DLK is less than PK, there is obviously significant difference (χ(2) = 34.17, P0.05).There is less complications of DLK than PK for fungal corneal ulcer. DLK can reduce the occurrence of reject reaction of endothelium type, and the BCVA, refraction of DLK after operation is similar to PK, the incidence rate of surgical operation failure is low.