A novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family.

BACKGROUND: Previous studies indicated that hyperlipidemia was associated with retinitis pigmentosa (RP). We aimed to identify the mutations in the C5L2 gene which was reported to be associated with hyperlipidemia in a Chinese family with (RP). METHODS: The Proband from the family was screened for mutations in the C5L2 gene that was known to cause hyperlipidemia. Cosegregation analysis was performed in the available family members. Linkage analysis was performed for one missense mutation to calculate the likelihood of its pathogenicity. One hundred and fifty unrelated, healthy Chinese subjects were screened to exclude nonpathogenic polymorphisms. RESULTS: By direct sequencing method, we identified a novel mutation (Thr196Asn) in C5L2 gene. In this family, each affected family members with RP showed a heterozygous mutation in the C5L2 gene. And all the carriers with heterozygous mutation have increased serum lipid levels in this family. CONCLUSIONS: The present study has extended the mutation spectrum of C5L2, and Thr196Asn mutations in C5L2 were associated with RP and serum lipid levels.

[Effects of tobramycin dexamethasone eye ointment for blepharitis: multi-center clinical trial].

OBJECTIVE: To realize the effectiveness and security of Tobramycin and Dexamethasone Eye Ointment for blepharitis treatment. Design Case control studies. Participants 148 patients be diagnosed as blepharitis including 81 cases as research group and 67 cases as control group. METHODS: Multi-center randomized controlled clinical trial. The patients met the inclusion criteria from First Hospital Peking University, Beijing Tongren Hospital, Southwest Hospital, Ophthalmology Center Zhongshan University and Third Hospital Peking University were divided into two groups in Aug. to Dec. 2011. Tobramycin dexamethasone eye ointment was applied to eye lid in research group while patients in control group used tobramycin eye ointment. All patients were informed to apply warm compress to the lids, mechanically washing to the eyelids and artificial tears. At the beginning, the 7(th) day, the 14(th) day and the 28(th) day of treatment, observation of symptom, sign and side effect were recorded. RESULTS: Before treatment the difference of the symptom scores of burning sensation, tears, photophobia and itch of two groups has no statistically significant (t = 1.87, 0.43, -0.64, 0.93, P > 0.05), but the symptom scores have a statistically significant decrease (t = 1.99 - 6.90, P < 0.05) at the 7(th) day, 14(th) day, 28(th) day. Before treatment the difference of signs scores have no statistically significant except the term of new blood vessels (t = 2.32, P = 0.02) while all the signs scores have a statistically significant decrease at the 7(th) day, 14(th) day, 28(th) day. Side effect: the number of patients with elevated intraocular pressure of research and control group is 3 and 1 respectively and the ratio is 3.7% and 1.5%. CONCLUSIONS: The tobramycin dexamethasone eye ointment can improve signs and symptoms of blepharitis patients. Some patients have to face with the risk of elevated intraocular pressure and it's necessary to monitor the intraocular pressure.

[A primary study of L-carnitine protective effect on corneal and conjunctival epithelium of mouse dry eye model induced by hyperosmolar saline].

OBJECTIVE: To evaluate protective effects of L-carnitine on corneal and conjunctival epithelium of mouse dry eye model induced by hyperosmolar saline. METHODS: Sixty female BALB/c mice at the age of 6 - 8 weeks were randomly divided into three groups (20 in each): Hyperosmolar saline group (HO), Hyperosmolar and Isosmotic saline group (HO + IO), as well as Hyperosmolar saline and 1% L-carnitine group (HO + 1%LCA). The HO group was treated with 500 mOsmol/L sodium chloride solution; the HO + IO group with 308 mOsmol/L sodium chloride solution first and 500 mOsmol/L sodium chloride solution 30 minutes later; and the HO + 1%LCA group with 1%L-carnitine eye drop first and 500 mOsmol/L sodium chloride solution 30 minutes later. Alternately, 5 times a day for 28 days. Corneal fluorescein staining, corneal epithelial hematoxylin-eosin staining and thickness measurement, conjunctival epithelial periodic acid-schiff reagent staining and goblet cell counting were conducted on 0, 7th, 14th and 28th days, respectively. On 28th day, corneal surface was inspected by scaning electron microscopy and tear osmolarity was measured. RESULTS: In HO or HO + IO group, compared with HO + 1%LCA group, the number of goblet cells was reduced, the score of corneal fluorescein staining and corneal epithelial thickness was elevated: on 7th day, there was difference noticed in the corneal epithelial thickness [(27.7 ± 1.1), (26.5 ± 1.4), (25.1 ± 1.0) µm, P < 0.01] and the number of goblet cell [(11.9 ± 1.1), (12.1 ± 0.9), (13.3 ± 0.9), P < 0.01] in 3 groups; on 14th day, there was evident change in the corneal fluorescein staining area [(3.2 ± 0.9), (2.9 ± 0.7), (1.7 ± 0.8), χ(2) = 11.465, P < 0.01] in 3 groups. On 28th day, Increased tear osmolarity and lowered microvilli on cornea were examined in HO [(327.37 ± 4.20) mOsmol/L] or HO + IO [(324.36 ± 5.72) mOsmol/L] group compared with HO + 1%LCA [(308.29 ± 5.72) mOsmol/L] group (P < 0.01). CONCLUSION: L-carnitine had protective effect on corneal and conjunctival epithelium of mouse dry eye model induced by hyperosmolar saline, and should be studied further.

Clinical analysis of 135 patients with severe eye burn / 中华烧伤杂志

<p><b>UNLABELLED</b>To investigate the clinical characteristics, prognosis, and complications of acute severe burn injury of the eyes.</p><p><b>METHODS</b>One hundred and thirty-five patients (155 eyes) with acute severe burn injury of the eyes admitted to our hospital from 1977 to 2002 were analyzed retrospectively. The recovery rate and time, causes and incidence of blindness, and complications of burn injury of different depth and causes of burns were analyzed statistically.</p><p><b>RESULTS</b>(1) The recovery time of patients with full-thickness burn of the eye ball was obviously shorter than that with IV degree eye burn, and the recovery rate of those with III degree burn was also evidently higher than that with IV degree burns (P < 0.01). Among the patients with non-repaired IV degree eye burn, the incidence of corneal perforation (6 eyes) in patients injured by acid was markedly higher than that by alkali (1 eye, P < 0.05). There were 38 III degree injured eyes with the visual acuity more than 0.05 and 51 with that less than 0.05. While there was no eye with the visual acuity more than 0.05 but 66 with that less than 0.05. Fifty-two out of 78 eyes injured by acid and alkali went blind with occoecatio ratio of 66.7%. But 65 out of 77 eyes injured by heat went blind with occoecatio ratio of 84.4%. The complication in patients with III degree eye burn was lower than that with IV degree burns. The incidence of corneal perforation and symblepharon in patients with III degree eye burn was 1.1% and 36.0%, which was obviously lower than that with IV degree eye burn (27.3% and 59.1%, P < 0.01). The highest incidence of corneal perforation and symblepharon was in those with eye burn injured by acid (29.2%, 37.5%). While the highest incidence of the symblepharon in those with thermal eye burn was 53.2%.</p><p><b>CONCLUSION</b>Among the patients with IV degree burns, those with acid, alkali and heat burns have bad prognosis, with high blindness rate. Current therapies cant improve eye function and prognosis of the patients thoroughly, which need further study in the future.</p>

[Analysis of current status of eye bank construction in Western China].

OBJECTIVE: To evaluate the current status of eye bank construction in Western China. METHODS: The numbers of eye banks, equipments of eye banks, methods of donor cornea preservation, fund for managing eye banks, technicians of eye banks, and difficulties in the construction of eye bank were surveyed by questionnaires from ophthalmology associations and eye banks in the following provinces and city: Sichuan province, Yunnan province, Guizhou province, Guangxi Zhuang autonomous region, Tibet autonomous region, Shanxi province, Gansu province, Ningxia Hui autonomous region, Qinghai province, Xinjiang Weiwuer autonomous region, Neimonggu autonomous region, and city of Chongqing before March 2003, and the numbers of eye banks and donor corneas obtained from January 1999 to March 2003 were also included in the study. RESULTS: The current situation of eye bank construction in Western China showed: (1) There were total 8 eye banks in 6 provinces among the 12 provinces and city of Western China. The mean coverage rate of eye bank in Western China was 50%. There were two eye banks in Chongqing and Shanxi separately, one eye bank in Sichuan, Yunnan, Gansu and Xinjiang respectively. (2) The fundamental equipment of each eye bank included super-clean worktable, slit-lamp microscope, refrigerator, and liquid nitrogen jar. There were 5 specular microscopes and 6 computers in the 8 eye banks of Western China. The moist chamber and medium-term corneal preserving medium were used as short term and medium-term storage methods to keep the endothelial cell survival of donor cornea. As a long term preservation of corneal donor, glycerine dehydration and deep low temperature were still used regularly. (3) financial support of eye bank was from hospital, government assigned fund, international Orbis organization and etc. (4) There were only one or two technicians in majority of the eye banks investigated in the study. (5) From January 1999 to March 2003, community education regarding to donation of eye was carried out forty-two times. During the same period, the donated cornea was added up to 156, and 126 of them were used in clinical transplantation. The difficulties in the construction of eye banks in Western China included: the amount of donated cornea was not enough; the technical exchange and cooperation between the eye banks were little; the patients could not afford the cost of transplantation surgery. CONCLUSIONS: The current situation of eye bank construction in Western China was behind that of rest areas in China, and the development of eye banks in Western China was not equal.