Association study of genetic variants on chromosome 7q31 with susceptibility to normal tension glaucoma in a Japanese population.

The caveolin 1 to caveolin 2 (CAV1-CAV2) gene region on chromosome 7q31 has been reported to be associated with susceptibility to primary open angle glaucoma (POAG) and normal tension glaucoma (NTG) in previous studies. We investigated whether genetic variants in the CAV1-CAV2 region are associated with NTG in Japanese patients. Two hundred and ninety-two Japanese patients with NTG and 352 Japanese healthy controls were recruited. We genotyped three single-nucleotide polymorphisms; that is, rs1052990, rs4236601, and rs7795356, in the CAV1-CAV2 gene region and assessed the allelic diversity among cases and controls. The frequency of the minor allele (G) of rs1052990 was significantly decreased in NTG cases compared with controls (P=0.014, OR=0.71), whereas NTG or POAG cases had a significantly higher frequency of the allele than controls in previous studies. Conversely, rs7795356 did not show any significant association with NTG cases, and rs4236601 was monomorphic in the Japanese study population. Our findings did not correspond with previous positive results, suggesting that CAV1-CAV2 variants studied in the present study are not important risk factors for NTG susceptibility in all populations. Further studies are needed to elucidate the possible contribution of the CAV1-CAV2 region to the development of glaucoma.

Spontaneous closure of a macular hole caused by a ruptured retinal arterial macroaneurysm.

PURPOSE: To report a spontaneous closure of a macular hole (MH) that was caused by a ruptured retinal arterial macroaneurysm (RAM). METHODS: Observational case report. Clinical examinations and optical coherence tomographic (OCT) evaluations of the retina of a 73-year-old woman who developed a MH secondary to a ruptured RAM. RESULTS: The first sign of a closure of the MH was the appearance of tissue bridging the MH in the OCT images. Later, OCT images showed a hyperreflective tissue, probably glial cells, that connected the bridging tissue to the RPE. Seven months after the first examination, the hyperreflective tissue was smaller and the shape of the foveal pit had recovered. CONCLUSIONS: A spontaneous closure of a MH caused by a ruptured RAM can occur and surgical intervention was not necessary. The tissue bridging over the MH and the hyperreflective tissue connecting the bridging tissue to the RPE most likely were involved in the spontaneous MH closure.

Macular configuration determined by optical coherence tomography after idiopathic macular hole surgery with or without internal limiting membrane peeling.

AIMS: To evaluate the effect of pars plana vitrectomy (PPV) with or without internal limiting membrane (ILM) peeling on the closure and configuration of idiopathic macular holes (IMH). METHODS: PPV was performed for IMH on 44 eyes with ILM peeling (ILM peeled group) and on 42 eyes without ILM removal (ILM preserved group). Optical coherence tomography (OCT) was performed on 34 ILM peeled eyes and 14 ILM preserved eyes after successful surgery. The repaired macular holes were classified by the OCT images as being of "good shape" (nearly normal foveal contour) or "poor shape" (abnormal foveal contour with flat fovea and steep edge, or with a thick retina without a foveal pit). RESULTS: The anatomical closure rate was significantly higher in the ILM peeled group (93.2%) than in the ILM preserved group (76.2%) (p = 0.028). In the ILM peeled group, 31 eyes had a fovea of good shape and three eyes had a fovea with a poor shape, while in the ILM preserved group, six eyes had a fovea of good shape and eight eyes had a fovea of poor shape. The percentage of eyes with good macular configuration in the ILM peeled group was significantly higher than in the ILM preserved group (p = 0.0003). No significant difference was found in the postoperative visual acuity and the increase of visual acuity between the ILM peeled group and the ILM preserved group (p = 0.26, and p = 0.91 respectively). There was also no significant difference in the postoperative visual acuity and improvement in visual acuity between eyes with a fovea of good shape and those with fovea of poor shape fovea (p = 0.99 and p = 0.66, respectively). CONCLUSIONS: ILM peeling may provide better anatomical success and recovery of the macular shape, but the postoperative visual acuity and improvement of visual acuity were not related to the morphological results.