bluuebunny/crossref_metadata_2025_split huggingface dataset:
Increasing complexity of ocular genetic diseases : the case of BEST disease
Authors: ABITBOL M , LACASSAGNE E , PUECH B 
Published: November 2010

Abstract Purpose Monogenic diseases until recently appeared simple from a molecular genetics point of view but correlations between genotypes and phenotypes still remain difficult to establish in many diseases and for many genes. For autosomal dominant diseases such as Best Vitelliform Macular Dystrophy, supposed to be a juvenile disease, it appears that mutations of BEST1 gene can cause multiple phenotypes including early onset and late onset phenotypes as well as unexpected phenotypes such as RP. We report several novel mutations and their associated phenotypes and describe phenotypes linked to previously reoported mutations for which the phenotype had not been describe at all previously. The role of SOX9, MITF and OTX2 in the incomplete penetrance and the variable expressivity of BVMDs is duscussed as well the potential roles of SNPs occuring in coding exons Methods We used genomic PCR with appropriate primers flanking all the exons of the BEST1 gene in order to amplify them. This Genomic PCR was followed by automated sequencing and careful analysis of the sequences obtained. Results We report the case of an unusual family where the Mother II2 of the proband III1, his maternal aunt II3, his brother III3 and his first cousin IIIIV, the son of his maternal aunt, carry a missense mutatation causing apparently only electrophysiological abnormalities. The Father II1 of the proband III1 turned out to carry a stop codon instead of the fifth normal BEST1 codon. The father did not display any electrophysiological nor any clinical abnormality and has a perfect monocular and binocular vision. In contrast the proband III1 carries both mutations with a severe phenotype. Conclusion This report exemplifies the necessity to study all family members in the case of BVMDs.
Phenotype/genotype in congenital central hypoventilation syndrome
Authors: BREMOND‐GIGNAC D , TRANG H 
Published: November 2010

Abstract Purpose To report and to classify the ocular motility disorders in congenital central hypoventilation syndrome. This rare syndrome, 1 of 200,000 livebirths, is characterized by a lack of ventilation due to defects of autonomic control especially of hypercapnia. Methods We examine in a study 34 children (range 9 days‐old to 15 yo) with congenital central hypoventilation syndrome. They underwent a complete ocular and orthoptic consultation. An informed consent was signed to perform a DNA analysis to precise PHOX‐2B gene mutations. Results Anisocoria, stabismus, eso and exotropia or phoria, ptosis, craniofacial palsy were found and we evaluated disorders considering intrinsic ocular motility and extrinsic ocular motility. We classified ocular anomalies in minor and major types with a score. The phenotype score was established in correlation with genotype. The score is higher in patients with genotype of equal or more 7 ALA mutations and a precise table correlation was established. Conclusion The high incidence of ocular motility disorders may result of neurologic defects of the oculomotor nerves and muscles involving neural crest development. A precise phenotype contributes to an evaluation of the severity of the disease and can also lead to a better reeducation of oculomotor anomalies.
Phenotype/genotype in Gardner disease
Authors: MILAZZO S 
Published: November 2010

Abstract Purpose Gardner syndrome is a variant of familial adenomatous polyposis and results in the manifestation of external and internal symptoms including gastrointestinal polyps, osteomas, tumors, epidermoid cysts and congenital hypertrophy of retinal pigment epithelium. Methods Three families of Gardner syndrome including 23 patients underwent complete check‐up to characterize ocular and general phenotype. Ophthalmologic manifestations are simple, non invasive reliable and very sensitive. The gene responsible for this disorder was localized on the long arm of the fifth chromosome. APC‐associated polyposis conditions are caused by mutations in the APC gene. A subset of individuals with clinical features of FAP will instead carry a mutation in the MUTYH gene. Results Of the 23 patients, 13 presented a bilateral congenital hypertrophy of retinal pigment epithelium. In these patients 6 had a positive coloscopic exploration. This inherited autosomal dominant disorder has a marked propensity to malignant transformation, so, it is important to detect affected patients early. Conclusion Currently, there are no specific screening recommendations for Gardner syndrome, but testing following general screening recommendations for extra‐colonic malignancies, genetic counseling, and endoscopy are encouraged.
Phenotype/genotype evolution in corneal dystrophies
Authors: CHIAMBARETTA F 
Published: November 2010

Abstract Purpose The corneal dystrophies are a group of genetically determined diseases usually characterized by loss of corneal transparency, which may be caused by a progressive accumulation of abnormal material within the cornea. The genetic characterization of corneal dystrophies revealed both genetic heterogeneity, that is, different genes (KRT3 and KRT12) causing a single dystrophy phenotype (Meesmann dystrophy), and phenotypic heterogeneity with a single gene (TGFBI) causing different allelic dystrophy phenotypes (RBCD, TBCD, granular type 1, granular type 2, and lattice type 1).But less is known about the evolution of the phenotype during life. Methods We were interesting in following the corneal phénotype progressive evolution during childhood. During several years we analyzed corneal phénotype of families of Lattice type 1 and granular type 1, using Scheimpflug camera. Results We were able to follow the accumulation of abnormal material, his corneal localisation and evolution during years. Conclusion The phenotype of both Lattice type 1 and granular type 1 is totally different in childhood, with subepithelial localization.
Blue cone nonochromacy gene mutation in Asia: phenotype variability
Authors: BITOUN P , RIGAUDIERE F , PAPKE M , KOHL S , WISSINGER B 
Published: November 2010

Abstract Purpose A far East asian family with 4 affected maternal cousin males with congenital nystagmus, low vision and dyschromatopsia was investigated for a genetic cause after informed consent. Blue cone monochromacy is a rare form of X‐linked visual handicap with dyschromatopsia. Methods Family members had ophthalmologic examination including visual acuity, fundoscopy , slit lamp, biomicroscopy,colour vision testing and ERG and VEP recordings.DNA analysis of the composition of the cone ospin gene cluster was performed by PCR and PCR/RFLP as well as direct sequencing of LWS opsin gene. Results A novel nonsense Mutation in the single Long wave sensitive opsin gene was identified in all affected males and carrier females. The variability of the phenotype as well as the added role of parental myopia transmission in the phenotype will be discussed. Conclusion This is the first reported molecular diagnosis of blue cone monochromacy in the Asian population.The compound effect of dominantly inherited myopia offers insight of the effect of the added mutational load in these patients.
Prevalence of age‐related macular degeneration in rural Central India. The Central India Eye and Medical Study
Authors: LIBONDI T , NANGIA V , JONAS JB , KULKARNI M , MATIN A 
Published: November 2010

Abstract Purpose To evaluate the prevalence of age‐related macular degeneration (AMD) in the adult population of rural Central India. Methods The participants underwent a detailed ophthalmic and medical examination including standardized questions on the socioeconomic background, lifestyle, and social relations. Prevalence of AMD as defined by the Wisconsin Age‐Related Maculopathy Grading system. Results Including only subjects with an age of 40+ years revealed a prevalence of early AMD of 3.6±0.2 % (95%CI: 3.1%‐4.0%) per eye and of 6.1±0.4% (95%CI: 5.3%‐6.9%) per person; and of late AMD of 0.1±0.5% (95%CI: 0.1%‐0.2%) per eye and of 0.2±0.8% (95%CI: 0.1%‐0.4%) per person. Neovascular AMD was found in 5 (0.06±0.03%) eyes. Geographic AMD was detected in 4 (0.04±0.02%) eyes. Late AMD was found in 9/8943 (0.1±0.03%; 95%CI: 0.03%‐0.2%) eyes or 8/4542 (0.2±0.03%; 95%CI: 0.1%‐0.3%) subjects. The prevalence of early AMD increased from 1.3±0.3% in the 30‐ to 40‐year age group, to 3.6±0.5% in the 41‐ to 50‐years old group, to 7.9±0.9% in the 51 to 60‐ years old group, to 10.0±1.1% in the 61‐ to 70‐years old group, to 8.3±0.2% in the 71‐ to 80‐years old group, and to 8.0±5.5% in the 81+ year old subjects. AMD was causative for visual impairment (best corrected visual acuity in the better eye: <20/60 and ≥20/400) in 3 out of 342 (0.9%) subjects, and it was causative for blindness (visual acuity <20/400) in none out of 17 subjects. Conclusion Age‐related macular degeneration was found less frequently in the adult population in rural Central India than in Caucasian populations. Accordingly, visual impairment due to age‐related macular degeneration was relatively uncommon in the adult population in rural Central India.
Diurnal variation in diabetic macular edema measured by optical coherence tomography
Authors: IBANEZ ALPERTE J , PEREZ GARCIA D , MATEO OROBIA A , PEIRO EMBID C , SAINZ A , CRISTOBAL BESCOS JA , FAURE NOGUERAS E 
Published: November 2010

Abstract Purpose To investigate diurnal variation in diabetic macular edema using the Stratus OCT ( Carl Zeiss Meditec). Methods Forty eyes of twenty diabetic patients with diabetic macular edema underwent four optical coherence tomography (OCT) measurement of macular thickness with the fast macular thickness mapping protocol of the Stratus OCT at 9 AM, 12 AM, 3 PM, 6 PM. ETDRS visual acuity and refraction data were also collected at each time. Retinal thickness measurements from each of the nine areas of the retinal map, visual acuity and refraction were correlated over time. Results In our study we find a decrease delk macular thickness by means of OCT of 4%, 5%, 6% at 12 a.m. am 15 am 16 pm. In the group of patients with macular thickness bigger than 300 microns, we find change in the refraction of 2 patients. In the rest of patients (absence of macular edema,. slight macular edema), there were no significant changes of the macular thickness. Conclusion This study suggests that macular thicknening, as measured by the Stratus OCT, may spontaneously decrease in some patients with more severe macular diabetic edema over the course of the day.
Optic nerve and macular thickness studied by CirrusTM OCT in Type 1 Diabetes Mellitus patients without retinopathy
Authors: IDOIPE M , GARCIA‐MARTIN E , FUERTES I , FERNANDEZ PEREZ S , PINILLA I , GUERRI MONCLUS N , EGEA ESTOPINAN MC , PRIETO CALVO E , CRUZ N , BORQUE RODRIGUEZ‐MAIMON E 
Published: November 2010

Abstract Purpose To compare optic nerve and macular thickness in patientes with Diabetes Mellitus (DM) type 1 without retinopathy, with healthy subjects. Methods Comparative cross‐sectional study. One eye per patient was randomly selected from fifty healthy subjects and 50 patients with type I DM without retinopathy with intensive glycemic control. Patients were scanned using Cirrus HD‐OCT (Carl Zeiss Meditec, Inc., Dublin, CA). The scan protocols were optic disc cube 200x200 and 512x128 volumen cube to assess the retinal nerve fiber layer and the macular thickness respectively. Results Mean age of control group was 30.26 years and 30.08 in DM patients. In optic nerve study, statistically significant differences were found in temporal and nasal quadrants. In macular thickness study we did found differences in all the studied parameters including macular volumen, average thickness, superior, nasal ant temporal of the 3 mm ETDRS ring, and all of the 6 mm ETDRS ring; excluding the central 1 mm ETDRS ring and inferior value of the 3 mm ETDRS ring (all the values were higher in DM patients). Conclusion Cirrus OCT is no able to detect retinal nerve fiber layer lost in type I diabetes mellitus patients without retinopathy. Cirrus showed an increase of retinal thickness in patients with DM, even when there is no sign of retinopathy or macular edema, and even when these patients are preserving the foveal shape. These data support the importance of increasing our knowledge of optic nerve study in diabetic patients and the follow up of macular thickness.
Non‐invasive retinal imaging of central serous chorioretinopathy
Authors: BEUTELSPACHER SC , JONAS JB 
Published: November 2010

Abstract Purpose Central serous chorioretinopathy leads to a serous detachment of the retina and a deterioration of visual acuity, contrast sensitivity and color vision. This is due to a leakage of serous fluid into the subretinal space through a defect in the retinal pigment epithelium. Methods A female patient aged 34 years experienced a drop in best corrected visual acuity to 20/40 with mild hyperopization and dyschromatopsias for two weeks. The diagnosis of a central serous chorioretinopathy was substantiated by optical coherence tomography (Stratus OCT, Zeiss Meditec, Jena, Germany) and infrared autofluorecence imaging (HRA classic; Heidelberg Engineering, Heidelberg, Germany). The patient additionally underwent retinal imaging by the Retinal Function Imager (RFI, Optical Imaging, Rehovot, Israel). Results The findings suggest that the technique applied by the Retinal Function Imager can be helpful to diagnose central serous chorioretinopathy and to visualize abnormal areas at the level of retinal pigment epithelium in a non‐invasive manner. This finding may suggest that the Retinal Function Imager was able to demonstrate a small motion in the subretinal space, originating at the site of detached retinal pigment epithelium. The finding fits with the observation of “smoke stacks” of fluorescein seen in patients with central serous chorioretinopathy when conventional fluorescein angiography is used. Conclusion The technique applied by the Retinal Function Imager can be helpful to diagnose central serous chorioretinopathy and to visualize abnormal areas at the level of retinal pigment epithelium in a non‐invasive manner. This finding may suggest that the Retinal Function Imager was able to demonstrate a small motion in the subretina
Evaluation of wound architecture in oblique 20‐gauge sutureless transconjunctival sclerotomies with VisanteTM optical coherence tomography
Authors: MANGIORIS G , MENDRINOS E , PAPADOPOULOU DN , POURNARAS CJ 
Published: November 2010

Abstract Purpose To investigate the in vivo real‐time wound morphology of 20‐gauge transconjunctival sutureless oblique sclerotomy wounds with anterior segment optical coherence tomography (OCT). Methods Subjects underwent three‐port pars plana vitrectomy with a 20‐gauge trocar/cannula microincision surgical system (Synergetics™) . All incisions were created in an oblique fashion (10º) and were imaged with the Visante OCT device on postoperative days 0, 1 and 8. Results Thirty patients were included. Slit‐lamp examination revealed no evidence of leakage from the sclerotomy sites. Visante OCT demonstrated closed wounds in all eyes on postoperative days 0, 1 and 8. Conclusion This study demonstrates that 20 gauge sutureless transconjunctival oblique incisions provide adequate wound apposition as shown by OCT even at the day of operation.
Dietary supplementation of genistein (geniVida®) ameliorates scopolamin‐induced dry eye syndrome in rats
Authors: SCHALCH W , ROOS F , BARKER FM 
Published: November 2010

Abstract Purpose Dry Eye Syndrome (DES) is an ocular surface disease with higher prevalence in women than in men. It is characterized by decreased tear gland secretion, altered tear composition and tear film instability. We investigated whether supplementation with the isoflavone genistein (GEN) could alleviate artificially induced DES in rats. Methods DES was induced in 24 female Sprague Dawley rats by daily trans‐dermal treatment with scopolamine (SCOP). Animals were housed on an AIN feed containing 0, 50 or 250 ppm of GEN provided as geniVida® by DSM Nutritional Products. 8 additional animals served as not‐stressed control. After 2 and 4 weeks, levels of GEN in plasma were measured by LC/MS and the status of DES was assessed using the Zone Quick Test (ZQT). After 4 weeks, animals were sacrificed and cornea and conjunctiva were examined for Goblet Cell Density (GCD) and the extent of lid keratinization (LK). Pairwise comparisons of endpoint values were done by t‐test or Mann‐Whitney test. Results Genistein feeding resulted in significant increases of plasma genistein concentrations. The achieved levels were commensurate to those reported in a human study supplementing 60 mg/day (Ullmann et al. (2005), Planta Med. 71: 891‐896), equivalent to 100g soy beans per day. In the 0 ppm GEN group, SCOP treatment increased the extent of LK and drastically reduced ZQT and GCD values, while genistein supplementation restored tear volume (p=0.0007), GCD (p=0.0028) and LK (p=0.0009) in a dose‐dependent manner. Conclusion While these results still need to be confirmed in humans, genistein supplementation may become a treatment option that fundamentally restores natural tear physiology, offering a major improvement over the currently used topical agents.
Commercial interest
Therapeutic potential of human hair follicle‐derived stem cells for ocular surface reconstruction using a rabbit stem cell deficiency model
Authors: MEYER‐BLAZEJEWSKA EA , SCHLöTZER‐SCHREHARDT U , KRUSE FE 
Published: November 2010

Abstract Purpose To examine the therapeutic potential of human hair follicle (HF)‐derived stem cells (SC) for ocular surface reconstruction. Methods HF SC were isolated enzymatically and enriched on a 3T3 layer by clonal growth assay. To support differentiation into a corneal cell phenotype, clones were transferred onto a fibrin carrier and cultivated in a conditioned medium (CM) derived from limbal stromal keratocytes. Following generation of a limbal stem cell deficiency a multilayered cell sheet grown on a fibrin carrier was transplanted onto a rabbit eye (n=3). Cell phenotype was examined by means of real time RT‐PCR, immunohistochemistry, and Western‐blotting using antibodies against corneal markers, K12 and Pax6, as well as the epidermal marker K10. To identify secreted factors in the limbal CM a Human Growth Factor Antibody Array was performed. Results Cultivation of HF cells in limbal keratatocyte–derived CM induced the expression of K12 and Pax6 on the mRNA and protein level, whereas the expression of K10 was strongly downregulated, in comparison to an unconditioned control. Several potential candidates (FGF‐4, IGFBP‐2, 4,6 and IGF‐II) involved in the corneal differentiation process could be identified. Following transplantation onto a limbal SC deficient rabbit eye, HF‐derived SC could regenerate the corneal epithelium and express the corneal differentiation marker K12 while suppressing K10 expression. Conclusion These findings suggest that human HF‐derived SC are capable of being reprogrammed into corneal cell phenotype when exposed to factors of the limbal niche in vitro and maintain the reprogrammed phenotype in vivo following transplantation onto an animal model.
Central corneal thickness and corneal curvature in patients with rheumatoid arthritis
Authors: OZCURA FATIH , AKSAKALLI ELIF 
Published: November 2010

Abstract Purpose To determine the central corneal thickness (CCT) and corneal curvature (CC) in patients with rheumatoid arthritis (RA), and to evaluate the correlations between the CCT, CC and RA activity and duration. Methods Thirty‐three RA patients (64 eyes; 20 with dry eye, 44 without dry ye) and 21 age and gender matched control patients (42 eyes) were enrolled in the study. The CCT, and CC were measured by ultrasonic pachymeter (Sonomed Micropach Model 200P, Lake Success, NY, USA), and autorefractokeratometer (Topcon KR 8800, Tokyo, Japan), respectively. RA activity was assessed using the disease activity score (DAS) 28. The independent samples t test and Pearson correlation analysis was used in the statistical analysis. Results Mean CCT were found 541.73 ± 39.55 μm, 531.45 ± 38.34 μm, 546.41 ± 39.63 μm, and 543.40 ± 39.55 μm in all RA eyes, RA with dry eyes, RA without dry eyes, and control eyes, respectively. Mean keratometry (K) readings were found 43.87 ± 1.98 D, 43.84 ± 1.23 D, 43.88 ± 2.25 D, and 43.60 ± 1.48 D in all RA eyes, RA with dry eyes, RA without dry eyes, and control eyes, respectively. There were no significantly difference in CCT (p values, 0.834, 0.275, and 0.729 respectively) and K readings (p values, 0.448, 0.524, and 0.493 respectively) between the RA and control eyes. CCT and K readings were not significantly associated with DAS (p values, 0.791, and 0.861 respectively) and RA duration (p values, 0.238, and 0.155 respectively). Conclusion Our results show that CCT and CC were not significantly different between the RA and control eyes. CCT and CC were also not associated with RA activity and duration.
Complications after IntacsTM: presentation of cases
Authors: PEREZ GARCIA D , IBANEZ ALPERTE J , JIMENEZ DEL RIO B , CRISTOBAL BESCOS JA , MATEO OROBIA A , CRUZ N , CABEZON L 
Published: November 2010

Abstract Purpose To report the postoperative complications developed after INTACS implantation in our series. Methods Retrospective, observational study of complications occurred after INTACS implantation for keratoconus in our hospital between May 2006 and January 2010 . We evaluated possible risk factors associated and the therapeutic management. Results We found after data analysis two extrusions,one corneal abscess and one late corneal neovascularization requiring explant as major complications. The extrusion rate was 0.6% and after explantation there was no decrease in corrected visual acuity in each patient. The incidence of infections in our series was 0.5%, with a single case. The therapeutic management was performed by topical fortified antibiotic,and resolved completely in in 11‐day period. Final visual acuity was close to 0.2. Corneal neovascularization was reported as a single case referred to our center. The patient was treated with topical cyclosporine A and corticosteroids.After 3 months of treatment the patient was asymptomatic with complete remission of the corneal neovascularization. No cases of intractable eye pain or other complication occurred in our series. Conclusion Implantation of Intacs is safe and effective, however like any surgical procedure is not without complications. Minimize the risk factors associated and an early management of complications are determining to achieve the best functional results is these patients.