Person: Martínez De La Casa Fernández-Borrella, José María
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First Name
José María
Last Name
Martínez De La Casa Fernández-Borrella
Affiliation
Universidad Complutense de Madrid
Faculty / Institute
Óptica y Optometría
Department
Inmunología, Oftalmología y ORL
Area
Oftalmología
Identifiers
9 results
Search Results
Now showing 1 - 9 of 9
Item Clinical Variability of Primary Congenital Glaucoma in a Spanish Family With Cyp1b1 Gene Mutations(Journal of Glaucoma, 2015) Morales Fernández, Laura; Martínez De La Casa Fernández-Borrella, José María; García Bella, Javier; Méndez Hernández, Carmen D.; Saenz Frances, Federico; García Antón, Maite; Escribano, Julio; García Feijoo, JuliánBackground: Primary congenital glaucoma (PCG) is a rare disease. In around a third of Spanish patients, the disease is attributed to mutations in the CYP1B1 gene inherited in an autosomal recessive manner. Such mutations are the main known genetic cause of PCG. Case Report: We describe the case of a family with 3 of 7 siblings diagnosed with PCG. In a genetic study of the CYP1B1 gene, 2 null mutations were identified in the affected siblings (R355fsX69/T404fsX38). Two of the 4 healthy siblings were heterozygous for mutation R355fsX69 and the remaining 2 had no mutations. The healthy parents were found to be heterozygous for mutations T404fsX38 (mother) and R355fsX69 (father). High variation in the expression of PCG was observed, especially in terms of disease onset and severity: Patient 1 in the eldest affected sibling, PCG was diagnosed at 8 years of age and is presently stable after 60 months of medical treatment; patient 2 the second affected child underwent surgery at 7 days of age. Today, at 104 months, she has undergone 2 operations on the right eye and 3 on the left eye; patient 3 the youngest sibling, the disease also manifested at birth and the boy underwent surgery at 4 days. Currently he is 84 months old, he has required 7 operations for glaucoma, 3 in the right eye and 4 in the left. Conclusions: This clinical case reveals the etiological relationship between CYP1B1 mutations and PCG. In addition, it indicates a highly variable clinical picture associated with a single disease genotype mainly affecting disease onset and progression.Item Correlations between corneal and optic nerve head variables in healthy subjects and patients with primary open angle glaucoma(International journal of ophthalmology, 2015) Sáenz Francés, Federico; Jañez Escalada, Luis; Borrego Sanz, Lara; Berrozpe Villabona, Clara; Martínez De La Casa Fernández-Borrella, José María; Morales Fernández, Laura; García Sánchez, Julián; Santos Bueso, Enrique Miguel; García Feijoo, JuliánAIM: To correlate corneal variables (determined using the Pentacam) with optic nerve head (ONH) variables determined using the Heidelberg retina tomograph (HRT) in healthy subjects and patients diagnosed with primary open angle glaucoma (POAG). METHODS: Measurements were made in 75 healthy eyes and 73 eyes with POAG and correlations examined through Pearson correlation coefficients between the two sets of variables in the two subject groups. The corneal variables determined were corneal volume (CVol), central corneal thickness (CCT), overall corneal thickness (OvCT), the mean thickness of a circular zone centered at the corneal apex of 1 mm radius (zone I) and the mean thickness of several concentric rings, also centered at the apex until the limbus, each of 1 mm width (zones II to VI respectively). The ONH variables were determined using the HRT. RESULTS: The following pairs of variables were correlated in the control group: CCT-disc area (DAr) (-0.48; P<0.0001), Zone I-DAr (-0.503; P<0.0001) and Zone II-DAr (-0.443; P<0.0001); and in the POAG group: CCT-cup-to-disc area ratio (CDRa) (-0.402; P<0.0001), Zone I-CDRa (-0.418; P<0.0001), Zone II-CDRa (-0.405; P=0.006), Zone I-cup shape measure (CSM) (-0.415; P=0.002), Zone II-CSM (-0.405; P=0.001), Zone IV-height variation contour (HVC) (0.378; P=0.002); Zone V-HVC (0.388, P<0.0001). CONCLUSION: AS-OCT-derived lens thickness measurement is valid and comparable to the results obtained by A-scan US. It can be used as a reliable noncontact method for measuring lens thickness in adults with or without significant cataract.Item Cumplimiento del tratamiento del glaucoma(Archivos de la Sociedad Española de Oftalmología, 2014) Santos Bueso, Enrique Miguel; Sáenz Francés, Federico; García Sáenz, Sofía; Méndez Hernández, Carmen D.; Fernández Vidal, Ana M.; Morales Fernández, Laura; Martín Valdizán, Carmen; Martínez De La Casa Fernández-Borrella, José María; García Feijoo, Julián; García Sánchez, JuliánItem Charles Bonnet syndrome in a child with congenital glaucoma(Archivos de la Sociedad Española de Oftalmología, 2017) Santos Bueso, Enrique Miguel; Serrador García, Mercedes; Sáenz Francés, Federico; Méndez Hernández, Carmen Dora; Morales Fernández, Laura; Martínez De La Casa Fernández-Borrella, José María; García Feijoo, Julián; Porta-Etessam, JesúsCase report: The case is presented of a 12 year-old boy with congenital glaucoma and low visual acuity diagnosed with Charles Bonnet syndrome. This consisted of the acute onset of complex, repetitive, persistent, and with visual hallucinations (people, brooms and coffeemakers) of self-limited evolution without treatment. The patient was diagnosed with congenital glaucoma at 3 years of age, and subjected to a trabeculectomy in right eye, and trabeculectomy and keratoplasty in his left eye. Discussion: Charles Bonnet syndrome symptoms have been described in adults, but their presence in children is poorly reflected in literature, with unknown characteristics and prevalence.Item Clinical Evaluation of the New Rebound Tonometers Icare PRO and Icare ONE Compared With the Goldmann Tonometer(Journal of Glaucoma, 2015) Moreno Montañes, Javier; Martínez De La Casa Fernández-Borrella, José María; Sabater, Alfonso L.; Morales Fernández, Laura; Sáenz, Cristina; García Feijoo, JuliánPURPOSE: To compare the participant-obtained intraocular pressures (IOPs) using Icare ONE and the clinician-obtained values using Icare PRO, both rebound tonometers, with Goldmann tonometry (GAT) values and analyze the ease of use of Icare ONE. METHODS: One hundred fifty participants were included (60 normal controls, 90 patients with glaucoma/ocular hypertension). The participants measured the IOP 3 times using Icare ONE; a clinician measured the IOP once using Icare PRO. The instruments were used randomly. Clinical data were evaluated to analyze the difficulty of the technique, the effect on the results, and the ease of use of Icare ONE. RESULTS: The mean IOPs with GAT, Icare ONE, and Icare PRO were 16.6±4.43, 17.5±5.42, and 16.6±4.77 mm Hg, respectively. The participant-measured IOP values were within +3 mm Hg of the GAT values in 67.1% of eyes with Icare ONE and in 79.6% with Icare PRO. The limits of agreement were higher with Icare ONE compared with Icare PRO. IOP value errors were found with Icare ONE in eyes with low and high GAT-IOP. The areas under the curve to detect IOPs of 21 mm Hg or higher (GAT) exceeded 0.80 with both tonometers. Young participants reported better ease of use with Icare ONE. No other factors were related to the results. CONCLUSIONS: Icare ONE may be useful for patients monitoring their IOP values; most individuals can use the device after a short training session. Icare PRO had better results compared with Icare ONE in all IOP ranges.Item Structural and biomechanical corneal differences between patients suffering from primary congenital glaucoma and healthy volunteers(Acta Ophthalmologica, 2017) Perucho González, Lucía; Sáenz Francés, Federico; Morales Fernández, Laura; Martínez De La Casa Fernández-Borrella, José María; Méndez Hernández, Carmen Dora; Santos Bueso, Enrique Miguel; Brookes, John L.; García Feijoo, JuliánPurpose: To determine whether a set of ocular morphometric and biomechanical variables are able to discriminate between healthy volunteers and patients suffering from primary congenital glaucoma (PCG). Methods: Case-control study in which 66 patients with PCG and 94 age-matched healthy subjects were evaluated using ocular response analyser (ORA) to record corneal biomechanical properties. Topographic corneal variables were obtained using the Pentacam in both groups. To determine the ability to discern between both groups, a multivariate binary logistic model was constructed. The outcome was the diagnosis of PCG and the predictors; the corneal variables analysed along with their first-term interactions. Sensitivity and specificity of this model along with the area under the receiver characteristic operating curve (AUC of ROC) were determined. Results: The best model to discriminate between both groups included the following predictors: corneal hysteresis (CH), corneal resistance factor (CRF), posterior maximum elevation (PME), anterior maximum elevation (AME) and central corneal thickness (CCT). This model, for a cut-point of 50%, presents a sensitivity of 86.67%, a specificity of 86.89% and an AUC of the ROC curve of 93.16% [95% confidence interval (CI): 88.97-97.35]. The adjusted odds ratios of those predictors which showed a significant discriminating capacity were as follows: for CH, 0.27 (95% confidence interval: 0.15-0.46); for CRF, 2.13 (95% CI: 1.33-3.40); for PME, 1.06 (95% CI: 1.01-1.12); and for AME, 1.35 (95% CI: 1.10-1.66). Conclusion: Corneal hysteresis (CH), CRF, PME and AME are able to discern between patients with PCG and healthy controls. This fact suggests that there are structural and biomechanical differences between these groups.Item The Icare-Pro Rebound Tonometer Versus the Hand-held Applanation Tonometer in Congenital Glaucoma(Journal of Glaucoma, 2016) Borrego Sanz, Lara; Morales Fernández, Laura; Martínez De La Casa Fernández-Borrella, José María; Sáenz Francés, Federico; Fuentes, Manuel; García Feijoo, JuliánPURPOSE: To compare intraocular pressure (IOP) measurements obtained using the new rebound tonometer Icare-Pro and the hand-held version of Goldmann Applanation Tonometer (Perkins tonometer) in children with primary congenital glaucoma (PCG) under general anesthesia. MATERIALS AND METHODS: Using both tonometers, 3 IOP measurements were prospectively determined in 1 single session. Icare-Pro was always used first, and then Perkins. All measurements were recruited in 50 eyes of 50 patients with PCG under general anesthesia. Central corneal thickness, anterior chamber depth, and axial length were also measured in each patient. Data were compared by determining interclass correlation coefficient for each tonometer and representing the differences detected as Bland-Altman plots. RESULTS: Good linear correlation was observed between IOP readings obtained using the Perkins and Icare-Pro (r=0.75, P<0.001), although the Icare-Pro readings were slightly higher (mean IOP difference 0.42 ± 3.69 mm Hg, P=0.41). A Bland-Altman plot revealed the 95% limits of agreement between the 2 methods: 7.7 to -6.8 mm Hg (slope=0.109, P=0.32). Intraclass correlation coefficient was 0.74 (95% confidence interval, 0.59-0.84) showing good agreement. For both tonometers, no correlation was detected between IOP measurements and central corneal thickness and axial length, but positive relation was found with anterior chamber depth. CONCLUSIONS: IOP measurements determined using the new Icare-Pro rebound tonometer showed good correlation with those obtained using the hand-held Perkins applanation tonometer in children with PCG under general anesthesia.Item Update on the usefulness of optical coherence tomography in assessing the iridocorneal angle(Archivos de la Sociedad Española de Oftalmología, 2019) Kudsieh, Bachar; Fernández Vigo, José Ignacio; Vila Arteaga, Jorge; Aritz Urcola, Javier; Martínez De La Casa Fernández-Borrella, José María; García Feijoo, Julián; Ruiz Moreno, José María; Fernández Vigo, José ÁngelThe iridocorneal angle, due to its implications in the physiopathology of aqueous humour drainage, is a fundamental structure of the anterior chamber. Anterior segment optical coherence tomography (AS−OCT) is a rapid and non-invasive technique that obtains images in vivo. The high resolution allows it to analyse the normal anatomy of the angle, any alterations, and the changes that occur after different therapeutic interventions. AS−OCT technology has evolved to provide images that allow the identification and quantification of the angular structures in healthy subjects and in glaucoma patients, and especially the trabecular meshwork and the Schlemm's canal. It also enables the angle width to be quantified, with some objective parameters that have been standardised in recent years, such as the trabecular-iris angle (TIA), the angle opening distance (AOD), and the trabecular-iris area (TISA). This technique has multiple uses in the study of the different mechanisms of angle closure, the evaluation of changes after a laser peripheral iridotomy or iridoplasty after cataract surgery, as well as after the implantation of phakic lenses.Item Proinflammatory cytokine profile differences between primary open angle and pseudoexfoliative glaucoma(Ophthalmic Research, 2021) Vidal Villegas, Beatriz; Burgos Blasco, Bárbara; Santiago Álvarez, Jose Luis; Espino Paisán, Laura; Fernández Vigo, José Ignacio; Andrés Guerrero, Vanessa; García Feijoo, Julián; Martínez De La Casa Fernández-Borrella, José MaríaIntroduction: Few studies have investigated glaucoma biomarkers in aqueous humor and tear and have found elevations of proinflammatory cytokines in patients with primary open-angle glaucoma (POAG) and pseudoexfoliative glaucoma (PXG). In this study we investigate differences in inflammatory cytokines between POAG and PXG patients to find specific disease biomarkers. Methods: For this purpose, tear and aqueous humor samples of 14 eyes with POAG and 15 eyes with PXG undergoing cataract surgery were immunoassayed for 27 pro-inflammatory cytokines. The concentrations of cytokines in tear and aqueous humor and their association with clinical variables were analysed, correlated and compared between the groups. Results: We found that the levels of three cytokines differed significantly in the aqueous humor of POAG and PXG patients: IL-12 and IL-13 were higher in the POAG group, while MCP-1(MCAF) was higher in the PXG group. The number of topical hypotensive medications was correlated with diminished levels of two cytokines (IL-7 and basic fibroblast growth factor) in aqueous humor in the POAG group and with diminished levels of IL-12 in tear in the PXG group. Conclusion: We conclude that both POAG and PXG show elevated concentrations of proinflammatory cytokines in tear and aqueous humor that could be used as biomarkers for these types of glaucoma and that the concentrations in aqueous humor of three cytokines: IL-12, IL-13 and MCP-1(MCAF) could be used to differentiate POAG and PXG.