Stickler syndrome is an autosomal dominant disorder of connective tissue with a wide range of expressivity and incomplete penetrance which is called hereditary progressive arthro-ophthalmopathy. Affected neohates may present with the Pierre-Robin syndrome, progressive myopia, retinal detachment, flat face, hypertelorism, progressive arthritis. Early recognition of the syndrome is important, not only for genetic counselling but also to offer a more precise prognosis and proper treatment of many serious disorders that may occur in affected children. We experienced a case of Stickler syndrome with large eyeballs in a 3-day-old female baby who showed Pierre-Robin anomaly, flat face, hypertelorism, epicanthal folds, long philtrum, micrognathia, deft palate, high congenital myopia, chorioretinal degeneration, thin habitus and hyperextensible joints.
Arthritis ; Child ; Connective Tissue ; Female ; Humans ; Hypertelorism ; Joints ; Lip ; Myopia ; Myopia, Degenerative ; Palate ; Penetrance ; Pierre Robin Syndrome ; Prognosis ; Retinal Detachment

High myopia, often called malignant, pathologic or degenerative myopia, involves a progressive elongation of globe, accompanied by degenerative changes of the retina and choroid. Continued stretching and degeneration of the choroid causes eyes with severe myopia to develop breaks in Bruch's membrane which, called lacquer cracks, and permits neovascular proliferation from the choriocapillaris into the subretinal pigment epithelial space. Neovascularization associated with severe myopia deteriorates central visual acuity due to exudation and/or hemorrhage. Laser photocoagulation therapy is useful in treating neovascular membrane outside the foveal avascular zone or extending to the edge of the perifoveal capillary network. We have evaluated three patients with macular hemorrhage which associated with high myopic choroidal degeneration. Subretinal neovascular membrane was detected by fluorecein angiography and was treated with monochromatic Argon green laser photocoagulation in two patients indicated. The visual acuities were improved. But one patient who had macular hemorrhage involving both foveas could not be treated with laser photocoagulation. Then his visual acuity severly decreased. We give our experiences with the review of other papers in this report.
Angiography ; Argon* ; Bruch Membrane ; Capillaries ; Choroid* ; Hemorrhage ; Humans ; Lacquer ; Light Coagulation* ; Membranes* ; Myopia ; Myopia, Degenerative ; Retina ; Visual Acuity

PURPOSE: To evaluate visual acuity changes over 3 years following surgical reattachment of macular hole retinal detachment (MHRD) developed in high myopia.METHODS: A retrospective analysis was performed using the medical records of patients with highly myopic eyes who underwent pars plana vitrectomy with internal limiting membrane peeling or the internal limiting membrane flap technique for MHRD. Changes in best-corrected visual acuity (BCVA) were measured at baseline, 6 months, 1 year, 2 years, and 3 years.RESULTS: Of the 22 eyes analyzed, macular hole was closed in 13 and unclosed in nine. BCVA significantly improved from 1.61 ± 0.39 logarithm of the minimum angle of resolution (logMAR) at baseline to 1.17 ± 0.43 logMAR at 6 months and 1.33 ± 0.48 logMAR at 2 years after MHRD surgery. At 3 years, BCVA significantly decreased compared with that at 6 months, and visual improvement from baseline was not significant. BCVA and proportion of vision loss ≥0.3 logMAR were not different between the closed and unclosed macular hole groups.CONCLUSIONS: Visual improvement after surgical reattachment of MHRD in high myopia was not maintained, and favorable macular hole closure effects were not observed at 3-year follow-up.
Follow-Up Studies ; Humans ; Medical Records ; Membranes ; Myopia ; Myopia, Degenerative ; Retinal Detachment ; Retinal Perforations ; Retinaldehyde ; Retrospective Studies ; Visual Acuity ; Vitrectomy

Choroidal Neovascularization ; drug therapy ; etiology ; Humans ; Hyperthermia, Induced ; Myopia, Degenerative ; complications ; epidemiology ; Vascular Endothelial Growth Factor A ; antagonists & inhibitors

PURPOSE: To investigate the short-term effect of intravitreal bevacizumab injection for choroidal neovascularization associated with degenerative myopia. METHODS: In 15 eyes of 15 patients, one or two consecutive intravitreal bevacizumab injections were given. The best-corrected visual acuity (BCVA) and fundus examination were evaluated at baseline and monthly thereafter. Fluorescence angiography (FA) was performed at baseline, 1 month and 3 months after treatment. When the angiographic leakage persisted 1 month after the first injection, a second injection was administered. RESULTS: The mean follow-up period was 9.7 months. The mean logarithm of the minimum angle of resolution (LogMAR) BCVA was 0.81+/-0.44 at baseline, 0.64+/-0.41 at 3 months (p=0.005), and 0.60+/-0.41 (p=0.001) at the final examination. Five eyes received a single injection, while the other ten eyes had two consecutive injections. Three months after the first injection, 14 eyes (93.3%) had no angiographic leakage, and 1 eye (6.7%) showed a decrease in leakage. The mean lines of visual improvement at 3 months and at the final examination were 1.7 and 2.1 lines, respectively. No case of vision loss was observed throughout the follow-up period. CONCLUSIONS: One or two consecutive intravitreal bevacizumab injections had favorable short-term effects on visual acuity stabilization and the regression of choroidal neovascularization associated with neovascular degenerative myopia.
Antibodies, Monoclonal, Humanized ; Choroid ; Choroidal Neovascularization ; Eye ; Fluorescein Angiography ; Follow-Up Studies ; Humans ; Myopia, Degenerative ; Vision, Ocular ; Visual Acuity ; Bevacizumab

OBJECTIVETo analyze the mutation of COL9A2 gene and investigate the molecular pathogenesis of pathological myopia in a Han Chinese population.

METHODSMutation in the coding region of the COL9A2 gene was screened by Sanger sequencing in 200 subjects with pathological myopia and 200 normal controls. The detected variants were genotyped by SNaPshot method in another 200 myopic cases and 200 normal controls.

RESULTSSanger sequencing has failed to detect the reported D281fs frameshift mutation in the 200 cases. A novel variant, c.143G>C heterozygous missense mutation in exon 2, was identified in a myopic subject, and another novel variant, c.884G>A heterozygous missense mutation in exon 17, was found in another case. Neither was found in normal controls. One SNP (rs2228564) was detected in the coding region of the COL9A2 gene, but there was no significant difference in its allelic frequencies between the two groups (P> 0.05). Genotyping of the remainder 200 cases and 200 controls by SNaPshot method has found a c.143G>C in 1 case and c.884G>A in 2 cases, though no significant difference between the two groups was detected (P> 0.05).

CONCLUSIONThe D281fs frameshift mutation in the COL9A2 gene is not associated with pathological myopia in the studied Han Chinese population. Two novel mutations, c.143G>C in exon 2 and c.884G>A in exon 17 of the COL9A2 gene, may contribute to the development of pathological myopia.

Asian Continental Ancestry Group ; genetics ; China ; ethnology ; Collagen Type IX ; genetics ; Frameshift Mutation ; Humans ; Myopia, Degenerative ; genetics ; Sequence Analysis, DNA

Macular hemorrhage which result from breaks of Bruch's membrane or from choroidal neovascularization can develop in high degenerative myopia, but its occurrence after photorefractive surgery has rarely been reported. We experienced a case of macular hemorrhage after laser in situ keratomileusis[LASIK]:A 28-year-old female patient with high myopia of -16.5 diopters, who had received successful LASIK operation on her left eye.complained of a sudden drop in vision 20 days postoperatively.On fundus examination, macular hemorrhages were detected on her left eye.Eventually the hemorrhages resolved, but more than 2 lines of her best corrected visual acuity were lost.During follow-up, a new hemorrhagic lesion was incidently found on the other eye. This case demonstrates that macular hemorrhages may develop after LASIK in eyes with high degenerative myopia, and lead to a permanent reduction in visual acuity.We should be alert to any potential retinal pathology in patients having refractive surgery.
Adult ; Bruch Membrane ; Choroidal Neovascularization ; Female ; Follow-Up Studies ; Hemorrhage* ; Humans ; Keratomileusis, Laser In Situ* ; Myopia ; Myopia, Degenerative ; Pathology ; Refractive Surgical Procedures ; Retinaldehyde ; Visual Acuity

PURPOSE: To evaluate the effect of axial length on the variability of retinal nerve fiber layer (RNFL) thickness measurements using the Stratus optical coherence tomography (OCT) in normal and glaucomatous eyes. METHODS: We measured the RNFL thickness in 474 subjects using the Stratus OCT twice during the same day. Axial length was measured with the IOLMaster, and refractive error was the absolute value of the spherical equivalent measured with an auto ref-keratometer. Standard deviation in overall mean RNFL thickness was used as the dependent variable to identify significant correlations. RESULTS: Long axial length affected the variability in the RNFL thickness value by stratus OCT at the temporal quadrant (p = 0.006) and clock-hour sector 9 (p = 0.001). Refractive error also affected the variability of the RNFL thickness value by stratus OCT at the temporal quadrant (p = 0.025) and clock-hour sector 9 (p = 0.024). CONCLUSIONS: It is clinically significant that longer axial length demonstrates greater variability in temporal area as detected by OCT, a measurement which correlates with the preferably damaged position in the myopic glaucoma eye.
Adult ; Aged ; Female ; Glaucoma/*pathology ; Humans ; Male ; Middle Aged ; Myopia, Degenerative/*pathology ; Nerve Fibers/*pathology ; Prospective Studies ; Refractive Errors ; Retinal Ganglion Cells/*pathology ; Tomography, Optical Coherence/*methods

PURPOSE: To compare the clinical outcome of AT-45 implantation between high myopic eyes and non-high myopic eyes. METHODS: Retrospective, non-randomized, comparative trial. The medical charts of 28 patients with 35 eyes who had phacoemulsification and AT-45 implantation were retrospectively reviewed. 13 eyes of 10 patients were included in the high myopic group (axial length > or = 26.0 mm) and 22 eyes of 18 patients were included in the non-high myopic group. The clinical data included unilateral best-corrected visual acuity (BCVA) and distance-corrected near visual acuity (DCNVA) at 6 months follow-up after the surgery. The results were compared between the two groups. RESULTS: In the non-high myopic group, 22 eyes (100%) and 19 eyes (86.4%) achieved a BCVA of 20/25 and 20/20 or better respectively. For the high myopic group, the results were 13 eyes (100%) and 12 eyes (92.3%) respectively, at 6 months after the surgery. In the non-high myopic group, 21 (95.4%) and 7 eyes (31.8%) achieved a DCNVA of 20/40 and 20/25 or better. For the high myopic group, the results were 13 (100%) and 4 eyes (30.8%) respectively, at 6 months after the surgery, the differences between the two groups for a BCVA of 20/25 or better and 20/20 or better and a DCNVA 20/40 or better and 20/25 or better were not statistically significant. CONCLUSIONS: Six months clinical outcome of cataract surgery with an AT-45 for the high myopic eyes was satisfactory; it was not significantly different from that of the non-high myopic eyes.
*Accommodation, Ocular ; Adult ; Aged ; Female ; Humans ; *Lens Implantation, Intraocular ; *Lenses, Intraocular ; Male ; Middle Aged ; Myopia, Degenerative/*surgery ; Phacoemulsification ; Retrospective Studies ; Visual Acuity/physiology

PURPOSE: To determine the frequency and potential causes of segmentation errors in spectral domain optical coherence tomography (SD-OCT) imaging of retinal nerve fiber layer (RNFL) scans. METHODS: Segmentation errors for the RNFL thickness analysis were recorded during a retrospective chart review of 214 eye scans from 132 consecutive patients with glaucoma or glaucoma suspect who underwent a complete eye exam using Spectralis™ OCT scanning from August 2014 to November 2014. Segmentation errors were classified as inner, outer, inner and outer segmentation errors, and degraded images. The risk factors including age, sex, intraocular pressure, spherical equivalents, severity of glaucoma, and associated ocular disorders were evaluated using logistic regression analysis. RESULTS: A total of 71 eye scans included segmentation errors. Risk factors of inner segmentation error (8.9%) were age, epiretinal membrane, and degenerative myopia. Risk factors of outer segmentation error (29.9%) were age, peripapillary atrophy, posterior vitreous detachment, and severity of glaucoma. Risk factors of inner and outer segmentation errors (6.1%) were age and degenerative myopia. The single risk factor of degraded image (2.3%) was degenerative myopia. CONCLUSIONS: Segmentation errors for SD-OCT RNFL scans in glaucoma patients are common. Clinicians should carefully review the scans for segmentation errors when using SD-OCT images in glaucoma diagnosis or during patient follow-up.
Artifacts ; Atrophy ; Diagnosis ; Epiretinal Membrane ; Follow-Up Studies ; Glaucoma* ; Humans ; Intraocular Pressure ; Logistic Models ; Myopia, Degenerative ; Nerve Fibers ; Retinaldehyde ; Retrospective Studies ; Risk Factors ; Tomography, Optical Coherence* ; Vitreous Detachment