Gamma knife radiotherapy in a neurofibromatosis type 1 Chinese pedigrees with NF1 gene frameshift mutation: A case report.

RATIONALE: Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder. NF1 is a multisystemic disease and its pathogenesis involves mutations in the NF1 gene on chromosome 17q11.2 causing RAS overactivation to stimulate abnormal cell proliferation. In this article, a Chinese family with neurofibromatosis type 1 was reported and the relationship between the phenotype and gene mutation was analyzed. PATIENT CONCERNS: The patient was a 9-year-old-male child diagnosed with right eye exophthalmos combined with right eye glioma, optic edema, and peripheral visual field defect. There were multiple cafe-au-lait spots in the whole body of the child. His mother had multiple cafe-au-lait spots, and the eye examination showed no abnormalities. DIAGNOSIS: The proband was diagnosed with NF1 and a heterozygous frameshift mutation (c. 6641delG p. Arg2214Asnfs*30) in the NF1 gene was identified, and his mother also carried the same pathogenic mutation. INTERVENTIONS: To protect the vision of the right eye, he was treated with gamma knife radiotherapy. OUTCOMES: After therapy, his fundus optic disc edema was decreased and the best corrected visual acuity of the right eye was increased. LESSONS: Gene detection is helpful to diagnose the disease and guide the treatment. Gamma knife radiotherapy can preserve better neurological function.

ABCB1 variants confer susceptibility to primary open-angle glaucoma and predict individual differences to latanoprost treatment.

OBJECTIVE: We investigated whether ABCB1 variants confer susceptibility to primary open-angle glaucoma and predict individual differences to latanoprost treatment. METHODS: Between May 2013 and May 2015, 129 POAG patients enrolled in the Department of Ophthalmology, the Second People's Hospital of Yunnan Province were identified as the case group and 121 healthy individuals were included as the control group. Direct DNA sequencing was used to detect four ABCB1 gene polymorphisms, namely, -129T>C (rs3213619), 1236C>T (rs1128503), 2677G>T/A (rs2032582) and 3435C>T (rs1045642). All POAG patients received latanoprost eye drops once daily. The differences in intraocular pressure (IOP) and visual acuity (VA) before and 1 month after latanoprost treatment were compared in different SNPs genotypes. RESULTS: Statistically significant differences in genotype frequency were found in ABCB1 gene polymorphism 2677G>T/A and 3435C>T between the case group and the control group (both P<0.05). No significant difference in genotype frequency was found in -129T> C and 1236C>T between the two groups (both P>0.05). Importantly, ABCB1 gene 3435C>T polymorphism was associated with a remarkably reduced IOP and an improved VA in POAG patients before and after latanoprost eye drops treatment (both P < 0.05). However, no significant differences in IOP and VA were found in other three genotypes between the two groups (all P>0.05). CONCLUSION: Our results suggest that ABCB1 gene polymorphisms 2677G>T/A and 3435C>T may confer to associated with the susceptibility to POAG. The ABCB1 gene polymorphism 3435C>T may be linked to individual differences in response to latanoprost eye drops treatment in POAG patients.

[Modified orbital decompression for severe thyroid associated ophthalmopathy].

OBJECTIVE: To present a new technique for orbital decompression that minimizes surgical approaches while maximizing the removed areas of orbital walls and to evaluate the efficacy and safety of it for patients with severe thyroid associated ophthalmopathy (TAO). METHODS: A retrospective review of 40 cases (66 eyes) with severe TAO undergoing the modified decompression between January 2009 and January 2011 was conducted. All patients were assigned to three groups, which were group CON: compressive optic neuropathy in 30 eyes, group MP: marked proptosis in 30 eyes, and group EK: exposure keratopathy in 6 eyes. The deep lateral, medial walls and orbital floor decompressions were underwent via an eyelid crease or a lateral sub-brow S-shape approach with a transcaruncular approach. Clinical outcomes were recorded including visual acuity, exophthalmometry, diplopia, clinical activity score (CAS) and CT scans before and 6 months after surgery. Intra- and postoperative complications were recorded. RESULTS: The postoperative visual acuity was improved in 17 eyes (56.7%, P < 0.05) of group CON. The mean proptosis reduction was (8.1 ± 2.7) mm (t = 11.73, P < 0.01) and (11.4 ± 3.1) mm (t = 15.52, P < 0.01) in group CON and group MP, respectively. The CAS was decreased in group CON (P < 0.01). Compared with preoperative records, the degree of diplopia was not significantly different in group CON (U = 131.0, P = 0.309) and group MP (U = 157.5, P = 0.881). Diplopia resolved in 7 cases (39%) of group CON, 5 cases (28%) of group MP. New-onset diplopia or its aggravation was recorded in 3 cases (17%) of group CON, 4 cases (22%) of group MP. The other postoperative improvement included recovered color vision, reduced intraocular pressure, and healing keratopathy. The important complications were intraoperative dural tears, new-onset diplopia and ocular inferior displacement. CONCLUSIONS: The modified orbital decompression offers wide exposure to the three orbital walls, marked proptosis reduction, and no apparent scar. It is efficacious and safety for the treatment of CON and inflammatory activity of TAO without serious complications, meanwhile, has little risk of induced diplopia.

[Experimental study on the rhesus monkey corneal endothelial cells substituted by the allogeneic vascular endothelial cells cultivated in vitro].

OBJECTIVE: To Explore the feasibility of rhesus monkey vascular endothelial cell(RMVEC) transplantation to substitute the allogeneic corneal endothelial cells(CEC), through observe the morphologic and functional change of the vascular endothelial cell which was transplanted to the inner surface of cornea without Descemet's membrane. METHODS: It was an experimental study. The rhesus monkey vascular endothelial cell was cultivated to proliferation and marked by BrdU in vitro. The experimented monkeys are divided into 2 groups: experimental group (6 monkeys), control group (3 monkey). In experimental group: the cultured RMVEC, marked by BrdU, were transplanted onto the posterior surface of rhesus monkey cornea without Descemet's membrane though centrifugal sedimentation, then sew back the corneal graft. In control group: detach the corneal Descemet's Membrane of rhesus monkey but without cultured RMVEC transplantation. Corneal transparency of every monkey was frequently observed postoperation. On 30, 60, 90 postoperative days, corneal graft were respectively detached to observe the distribution, appearance and ultrastructures morphological structure of RMVEC on the inner surface of cornea, by pathological section, anti BrdU monoclonal antibody immunohistochemistry, scanning electronic microscope(SEM) and transmission election microscopy(TEM). RESULTS: Corneal transparency: In the experimental observation period (three months), the corneal graft of experimental group had better transparency than control group and without corneal neovascularization and bullous keratopathy. Pathological section: A layer of cells with BrdU staining positive was found on the posterior surface of cornea in experimental group, indicated the cells are RMVEC. And no cell-like structure was found in control group. SEM: Experimental group showed that RMVEC with irregular shape uniformly distributed on the inner surface of cornea and growing well, a small amount of white blood cells can be seen between RMVEC, and part of cellular debris exist in the trabecular meshwork. Control group showed a fiber material without RMVEC. TEM: The cultured RMVEC and which in posterior surface of cornea was irregular oblateness, a large number of desmosomes link were been seen between RMVEC. Abundant organelles and characteristic WPBs appear in cytoplasm, which suggest the characteristics and vitality of vascular endothelial cells in vivo, and no cell structure in the control group. CONCLUSIONS: Rhesus monkey endothelial cells can growth on the posterior surface of cornea without Descemet's membrane. The cultured cells, with similar ultrastructure to RMVEC in vivo, can play a role of barrier to keep the corneal dehydration and transparency to some extent.