A boy was admitted at the age of 17 months. He had psychomotor retardation in early infancy. Physical examination revealed microcephalus, unusual facies, and a single palmar crease on his right hand, as well as muscle hypotonia in the extremities and hyperextension of the bilateral shoulder and hip joints. Genetic detection identified two pathogenic compound heterozygous mutations, c.8868-1G>A (splicing) and c.11624_11625del (p.V3875Afs*10), in the VPS13B gene, and thus the boy was diagnosed with Cohen syndrome. Cohen syndrome is a rare autosomal recessive disorder caused by the VPS13B gene mutations and has complex clinical manifestations. Its clinical features include microcephalus, unusual facies, neutropenia, and joint hyperextension. VPS13B gene detection helps to make a confirmed diagnosis.
Base Sequence ; Developmental Disabilities ; diagnosis ; genetics ; Fingers ; abnormalities ; Humans ; Infant ; Intellectual Disability ; diagnosis ; genetics ; Male ; Microcephaly ; diagnosis ; genetics ; Muscle Hypotonia ; diagnosis ; genetics ; Mutation ; Myopia ; diagnosis ; genetics ; Neutropenia ; complications ; genetics ; psychology ; Obesity ; diagnosis ; genetics ; Psychomotor Disorders ; diagnosis ; etiology ; genetics ; Retinal Degeneration ; diagnosis ; genetics ; Vesicular Transport Proteins ; genetics

OBJECTIVEA systematic review of literature was performed to compare various visual function parameters including the final visual acuity outcome and/or adverse events between corneal refractive surgery (CLRS) and phakic intraocular lens implantation (p-IOLi) in the treatment of refractive amblyopic children.

DATA SOURCESTwo reviewers independently searched the PubMed, EMBASE, and Controlled Trials Register databases for publications from 1991 to 2013.

STUDY SELECTIONThere were 25 articles, including 597 patients and 682 eyes, was included in CLRS group. Among them, 21 articles reported the use of CLRS in the treatment of myopic anisometropia for 318 patients (13 photorefractive keratectomy or laser epithelial keratomileusis and eight laser in situ keratomileusis). And 11 articles had the results of CLRS in treating hyperopic anisometropic amblyopia children. Eleven articles reported the effect of p-IOLi for treating high myopia or anisometropic amblyopia, including 61 patients (75 eyes). Age, pre- and postoperation best-corrected vision acuity (BCVA), and spherical equivalent (SE) were compared in CLRS and p-IOLi groups.

RESULTSThe average age of CLRS group and p-IOLi group has no statistically significant difference. The SE in CLRS group for myopic anisometropia amblyopia patients was (-10.13 ± 2.73) diopters (D) and for hyperopic anisometropia amblyopia patients was (5.58 ± 1.28) D. In p-IOLi group the SE was (-14.01 ± 1.93) D. BCVA was improved significantly in both groups, and even better in p-IOLi group. Refractive errors were corrected in both groups, but there was no clinically significant difference in final SE between each group. More than one-half of the children had improved binocular fusion and stereopsis function in both groups.

CONCLUSIONSBoth CLRS group and p-IOLi group showed their advantage in treating refractive amblyopia in children. In comparing p-IOLi with CLRS for treatment of refractive amblyopia, no statistically significant difference in final BCVA was observed.

Amblyopia ; etiology ; surgery ; therapy ; Anisometropia ; complications ; Child ; Child, Preschool ; Humans ; Myopia ; complications

BACKGROUNDPathological myopia (PM) is the leading cause for choroidal neovascularization (CNV) in people below 50 years of age, the anti-vascular endothlial growth factor (VEGF) medicine is now available to treat CNV secondary to PM. This study aimed to observe the efficacy of intravitreal ranibizumab for PM associated with subfoveal or juxtafoveal CNV in Chinese patients.

METHODSFifty-four eyes of 52 consecutive patients were included, they treated with intravitreal ranibizumab 0.5 mg for PM associated with CNV. The best corrected visual acuity (BCVA) of Snellen chart, letters of ETDRS chart, retinal thickness, leakage of CNV lesion, and complications with surgery were analyzed pre- and post-treatment. Eligibility criteria included diopter ≥-8.0 D or eye axis ≥ 28 mm with fundus changes of PM (lacquer crack, optic disc atrophy, chorioretinal atrophy, posterior scleral staphyloma); CNV secondary to PM; subfoveal or juxtafoveal CNV.

RESULTSFor 54 affected eyes of 52 consecutive patients, the average BCVA of Snellen chart and letters of ETDRS chart were 0.29 and 30.4, respectively; fundus fluorescein angiography (FFA)/indocyanine green angiography (ICGA) showed CNV leakage, and average retinal thickness on optical coherence tomography (OCT) was 267.2 µm before treatment. Injections of ranibizumab ranged from 1 to 4 (mean 2.2). Follow-up time varied from 12 to 36 months (mean 31.9 months). At the last visit, the BCVA of Snellen chart was increased by three lines (mean 0.65) (P < 0.01); the letters of ETDRS chart were increased to 17.0 letters (mean 47.4, P < 0.01); the visual acuity increased more than 15 letters in 30 eyes (55.5%), decreased in 1 eye (1.9%); the retinal thickness on OCT images was decreased by 17.0 µm (mean 250.2 µm) (P = 0.082); no active leakage from the CNV lesion occurred in 18 eyes (33.3%), reduced leakage in 30 eyes (55.6%), and no change in 6 eyes (11.1%) as shown by FFA/ICGA. Increased retinoschisis was observed in one eye after the second injection.

CONCLUSIONSIntravitreal ranibizumab for neovascular PM was well tolerated in Chinese patients, with functional and anatomic improvements in a short-term study, while a long-term study is still needed.

Adolescent ; Adult ; Aged ; Antibodies, Monoclonal, Humanized ; administration & dosage ; therapeutic use ; Choroidal Neovascularization ; complications ; drug therapy ; Female ; Fluorescein Angiography ; Humans ; Intravitreal Injections ; Male ; Middle Aged ; Myopia, Degenerative ; drug therapy ; etiology ; Ranibizumab ; Visual Acuity ; drug effects ; Young Adult

A 42-year-old man was admitted to our clinic complaining of visual distortion in his left eye two months after bilateral myopic photorefractive keratectomy (PRK). Macular optical coherence tomography (OCT) showed a stage II macular hole in the left eye. Simultaneous OCT in the right eye showed vitreous traction and distortion of the outer retina. One month later, the patient underwent vitrectomy for the left eye, and the macular hole was closed. Two months after that, the patient complained of visual distortion in the right eye, and OCT revealed increased traction and accentuated outer retinal distortion indicating a stage IB macular hole. Traction attenuated later without any intervention. The short interval between PRK and hole formation, bilateral involvement, and the moderate refractive error in this case highlight the possible role of PRK in aggravating vitreoretinal interface abnormalities. We recommend the addition of PRK to the list of procedures that may be associated with the formation of a macular hole.
Adult ; Humans ; Male ; Myopia/*surgery ; Photorefractive Keratectomy/*adverse effects ; Retina/*pathology ; Retinal Perforations/diagnosis/*etiology ; Tomography, Optical Coherence ; *Visual Acuity

PURPOSE: To investigate the biometric risk factors for corneal surface complications associated with hydrogel soft contact lens (SCL) fitting in myopic patients in Korea. METHODS: This is a retrospective case-control study. The records of 124 subjects (124 eyes) who wore SCLs on a daily basis were reviewed. Thirty-one patients (31 eyes) who were diagnosed with corneal neovascularization (NV) while wearing SCLs were included in the complication group. Ninety-three age- and sex-matched patients (93 eyes) who wore SCLs, who did not have corneal NV and who visited our clinic for correction of refractive errors were included in the control group. The degree of spherical equivalent, astigmatism and corneal base curve radius (BCR) were compared in both groups. RESULTS: Patients with NV exhibited poorer best corrected visual acuity and more myopia than controls (p = 0.008 and 0.006, respectively). In univariate analysis, highly myopic patients (-9 diopters [D] or higher) were more likely to experience NV (odds ratio [OR], 2.232; 95% confidence interval [CI], 1.602 to 3.105). High astigmatism (> or =2 D) increased the risk of complications (OR, 2.717; 95% CI, 1.141 to 6.451). Steep cornea, in which BCR was <7.5 mm, also raised the risk of complications (OR, 4.000; 95% CI, 1.661 to 9.804). Flat cornea was not a risk factor for the development of NV. CONCLUSIONS: High myopia, high astigmatism, and steep cornea seemed to be risk factors in the development of corneal NV in SCL wearers.
Adult ; Astigmatism/diagnosis ; Biometry ; Case-Control Studies ; Contact Lenses, Hydrophilic/*adverse effects ; Corneal Neovascularization/diagnosis/*etiology ; Female ; Humans ; Hydrogel ; Male ; Myopia/diagnosis/*therapy ; Prosthesis Fitting ; Retrospective Studies ; Risk Factors ; Visual Acuity

PURPOSE: To assess the refractive change and prediction error after temporary intraocular lens (IOL) removal in temporary polypseudophakic eyes using IOL power calculation formulas and Gills' formula. METHODS: Four consecutive patients (7 eyes) who underwent temporary IOL explantation were enrolled. Postoperative refractions calculated using IOL power calculation formulas (SRK-II, SRK-T, Hoffer-Q, Holladay, and the modified Gills' formula for residual myopia and residual hyperopia) were compared to the manifest spherical equivalents checked at 1 month postoperatively. RESULTS: The mean ages of temporary piggyback IOL implantation and IOL removal were 6.71 +/- 3.68 months (range, 3 to 12 months) and 51.14 +/- 18.38 months (range, 29 to 74 months), respectively. The average refractive error was -13.11 +/- 3.10 diopters (D) just before IOL removal, and improved to -1.99 +/- 1.04 D after surgery. SRK-T showed the best prediction error of 1.17 +/- 1.00 D. The modified Gills' formula for myopia yielded a relatively good result of 1.47 +/- 1.27 D, with only the variable being axial length. CONCLUSIONS: Formulas to predict refractive change after temporary IOL removal in pediatric polypseudophakia were not as accurate as those used for single IOL implantation in adult eyes. Nonetheless, this study will be helpful in predicting postoperative refraction after temporary IOL removal.
Cataract/*congenital ; *Cataract Extraction ; *Device Removal ; Female ; Humans ; Hyperopia/etiology/*surgery ; Infant ; Lens Implantation, Intraocular/*methods ; Lenses, Intraocular ; Male ; Myopia/etiology/*surgery ; Prospective Studies

PURPOSE: To assess the refractive change and prediction error after temporary intraocular lens (IOL) removal in temporary polypseudophakic eyes using IOL power calculation formulas and Gills' formula. METHODS: Four consecutive patients (7 eyes) who underwent temporary IOL explantation were enrolled. Postoperative refractions calculated using IOL power calculation formulas (SRK-II, SRK-T, Hoffer-Q, Holladay, and the modified Gills' formula for residual myopia and residual hyperopia) were compared to the manifest spherical equivalents checked at 1 month postoperatively. RESULTS: The mean ages of temporary piggyback IOL implantation and IOL removal were 6.71 +/- 3.68 months (range, 3 to 12 months) and 51.14 +/- 18.38 months (range, 29 to 74 months), respectively. The average refractive error was -13.11 +/- 3.10 diopters (D) just before IOL removal, and improved to -1.99 +/- 1.04 D after surgery. SRK-T showed the best prediction error of 1.17 +/- 1.00 D. The modified Gills' formula for myopia yielded a relatively good result of 1.47 +/- 1.27 D, with only the variable being axial length. CONCLUSIONS: Formulas to predict refractive change after temporary IOL removal in pediatric polypseudophakia were not as accurate as those used for single IOL implantation in adult eyes. Nonetheless, this study will be helpful in predicting postoperative refraction after temporary IOL removal.
Cataract/*congenital ; *Cataract Extraction ; *Device Removal ; Female ; Humans ; Hyperopia/etiology/*surgery ; Infant ; Lens Implantation, Intraocular/*methods ; Lenses, Intraocular ; Male ; Myopia/etiology/*surgery ; Prospective Studies

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

BACKGROUNDMyopia is a common disorder and the incidence has increased yearly, but its pathogenesis remains unclear. The aim of this study was to investigate the possible role of hepatocyte growth factor (HGF) and its receptor c-Met in the development of lens-induced myopia in guinea pigs.

METHODSSixty one-week-old guinea pigs were chosen. The right eyes were treated with -10.0 diopters (D) lenses as the lens-induced myopia group; the left eyes remained untreated as the control group. Six weeks later, refractive status and axial length were determined by streak retinoscopy and A-scan ultrasonography, respectively. The guinea pigs were killed and both eyes collected. Morphological changes were observed by hematoxylin and eosin staining. The expression levels of HGF, c-Met, and matrix metalloproteinase 2 (MMP-2) mRNA and protein in the posterior sclera were analyzed by RT-PCR and Western blotting, respectively.

RESULTSThe lens-induced myopia group became myopic with a significant increase in axial length and a significant decrease in refraction. Compared with the control group, the posterior retina and sclera were thinner in the lens-induced myopia group. The expression levels of HGF and MMP-2 mRNA and protein and of phosphorylated c-Met protein were significantly higher in the posterior sclera of the lens-induced myopia group than in the control group (all P < 0.05). In the lens-induced myopia group, the expression level of MMP-2 in the posterior sclera positively correlated with the expression level of HGF (r = 0.902, P < 0.05) and phosphorylated c-Met (r = 0.885, P < 0.05).

CONCLUSIONHGF/c-Met might play a role in the development of lens-induced myopia in guinea pigs by upregulating the expression of MMP-2.

Animals ; Guinea Pigs ; Hepatocyte Growth Factor ; metabolism ; Myopia ; etiology ; metabolism ; Proto-Oncogene Proteins c-met ; metabolism

OBJECTIVETo study the progression of myopia in school-age children over the past 12 years and factors influencing myopia progression.

METHODSA total of 4569 cases of 5 to 12-year-old children who had refractive examinations in the Third Xiangya Hospital, Central South University between January 2000 and December 2011 were enrolled in this study. The children had no family history of congenital high myopia or other eye diseases. Myopia progression was evaluated when the children were re-examined. The refractive state of each child was measured with cyclopiegic retinoscopy.

RESULTSThe mean spherical equivalent (SE) myopia was-2.0±1.7 D between January 2000 and December 2011. There was no statistical difference in yearly myopia progression between different years. The average age of the myopic children decreased from 10.1 in 2000 to 8.9 years old in 2011 (P<0.05). Mean myopia progression was -0.6±0.7 D per year from 2000 to 2011. Myopia progression reduced gradually in 5 to 8-year-olds (P<0.05), however, it accelerated between ages 9 and 11 years. Myopia progression in 10- and 11-year-olds was significantly greater than in 7- and 8-year-olds (P<0.01). The multiple linear regression analysis demonstrated that age and baseline myopic refraction were positively related to myopia progression.

CONCLUSIONSThere was no obvious change in the yearly myopia progression of the children over the past 12 years. The mean age of myopia occurrence became younger with time. More preventive measures are needed to ward off high myopia in children with moderate myopia, especially those aged over 10 years.

Adolescent ; Child ; Child, Preschool ; Disease Progression ; Female ; Humans ; Linear Models ; Male ; Myopia ; etiology ; Retrospective Studies