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
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UCM identifierORCIDScopus Author IDWeb of Science ResearcherIDDialnet IDGoogle Scholar ID

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Now showing 1 - 10 of 40
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    Corneal aberrations in primary congenital glaucoma and its visual correlation
    (International Ophthalmology, 2024) Ly-Yang, Fernando; Morales Fernández, Laura; García Bella, Javier; Garcia Caride, Sara; Santos Bueso, Enrique Miguel; Saenz Frances, Federico; Fernández-Vigo López, José; García Feijoo, Julián; Martínez De La Casa Fernández-Borrella, José María
    Primary congenital glaucoma (PCG) can cause permanent vision loss, and its prognosis is related to early detection and treatment. The main pathological defect consists of resistance to aqueous outflow through the trabecular meshwork due to abnormal development of tissue derived from the neural crest in the anterior chamber angle. Even after successful intraocular pressure (IOP) management in PCG poor visual outcomes still present a lifelong challenge. Vision loss in PCG is multifactorial, resulting from optic nerve damage, corneal scarring, and myopic astigmatism associated with anisometropic amblyopia. Although it is already known that children with PCG present with an altered corneal configuration, the knowledge of irregular astigmatism due to high-order aberrations (HOA) and due to the unequal expansion of the anterior segment, and its impact on visual outcomes, is not yet fully understood, to the best of our knowledge. Quality vision is influenced by the presence of aberrations in the eye's optical system, which can degrade the quality of the image projected onto the retina. Low-order aberrations (LOA), including myopia, hyperopia, and regular astigmatism, can be corrected by spectacles, while HOA cannot be corrected by ordinary means. Coma and spherical aberrations are the most visually significant HOAs, while trefoil and other HOAs have a lower impact on visual quality. The purpose of this article is to establish a quantitative correlation between HOA and visual acuity (VA) to measure the magnitude of the impact of the altered cornea on visual outcomes in PCG.
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    Agreement between central corneal thickness measured using pentacam, ultrasound pachymetry, specular microscopy and optic biometer lenstar LS 900 and the influence of intraocular pressure
    (Ophthalmologica, 2014) Borrego Sanz, Lara; Saenz Frances, Federico; Bermudez Vallecilla, M. C.; Morales Fernández, Laura; Martínez De La Casa Fernández-Borrella, José María; Santos Bueso, Enrique; Jañez Escalada, Luis; García Feijoo, Julián
    Purpose: To compare central corneal thickness (CCT) values obtained by Lenstar (LE), Pentacam (PC), specular microscopy (SM) and ultrasound pachymetry (UP) in healthy corneas and study their influence on intraocular pressure (IOP) readings determined by Goldmann applanation tonometry (GAT). Methods: CCT was measured in 76 healthy subjects by LE, PC, SM and UP. We established Lin's concordance correlation coefficient (ρ-C) between different techniques. The influence of CCT on GAT was established through univariate linear regression models, IOP being the dependent variable. Results: The highest ρ-C was found between LE and SM at 0.94 (95% CI: 0.91-0.96) and between LE and UP at 0.95 (95% CI: 0.94-0.97). IOP readings showed less variability when CCT was determined using LE (7.7%, B = 0.16; 95% CI: 0.004-0.28). Conclusions: Although CCT values obtained with UP, PC, SM and LE show good correlation, these methods are not completely interchangeable. The amount of IOP variation differs when CCT is determined using LE or SM.
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    CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix
    (Human Genetics, 2020) Bonet Fernández, Juan Manuel; Aroca Aguilar, José Daniel; Corton Pérez, Marta; Ramírez Sebastián, Ana Isabel; Alexandre Moreno, Susana; García Antón, María Teresa; Salazar Corral, Juan José; Ferre Fernández, Jesús José; Atienzar Aroca, Raquel; Villaverde Montero, Cristina; Iancu, Ionut; Tamayo Durán, Alejandra; Méndez Hernández, Carmen Dora; Morales Fernández, Laura; Rojas López, Blanca; Ayuso García, Carmen; Coca Prados, Miguel; Martínez De La Casa Fernández-Borrella, José María; García Feijoo, Julián; Escribano, Julio
    Abnormal development of the ocular anterior segment may lead to a spectrum of clinical phenotypes ranging from primary congenital glaucoma (PCG) to variable anterior segment dysgenesis (ASD). The main objective of this study was to identify the genetic alterations underlying recessive congenital glaucoma with ASD (CG-ASD). Next-generation DNA sequencing identified rare biallelic CPAMD8 variants in four patients with CG-ASD and in one case with PCG. CPAMD8 is a gene of unknown function and recently associated with ASD. Bioinformatic and in vitro functional evaluation of the variants using quantitative reverse transcription PCR and minigene analysis supported a loss-of-function pathogenic mechanism. Optical and electron microscopy of the trabeculectomy specimen from one of the CG-ASD cases revealed an abnormal anterior chamber angle, with altered extracellular matrix, and apoptotic trabecular meshwork cells. The CPAMD8 protein was immunodetected in adult human ocular fluids and anterior segment tissues involved in glaucoma and ASD (i.e., aqueous humor, non-pigmented ciliary epithelium, and iris muscles), as well as in periocular mesenchyme-like cells of zebrafish embryos. CRISPR/Cas9 disruption of this gene in F0 zebrafish embryos (96 hpf) resulted in varying degrees of gross developmental abnormalities, including microphthalmia, pharyngeal maldevelopment, and pericardial and periocular edemas. Optical and electron microscopy examination of these embryos showed iridocorneal angle hypoplasia (characterized by altered iris stroma cells, reduced anterior chamber, and collagen disorganized corneal stroma extracellular matrix), recapitulating some patients’ features. Our data support the notion that CPAMD8 loss-of-function underlies a spectrum of recessive CG-ASD phenotypes associated with extracellular matrix disorganization and provide new insights into the normal and disease roles of this gene.
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    Comparision of intraocular pressure measured using the new icare 200™ rebound tonometer and the Perkins™ applanation tonometer in healthy subjects and in patients with primary congenital glaucoma
    (Archivos de la Sociedad Española de Oftalmología (English Edition), 2021) Pérez García, Pilar; Morales Fernández, Laura; Sáenz Francés, Federico; Méndez Hernández, Carmen Dora; García Feijoo, Julián; Santos Bueso, Enrique; Martínez De La Casa Fernández-Borrella, José María
    Objective: To compare intraocular pressure (IOP) measurements obtained using the Icare 200™ (IC200) rebound tonometer and the hand-held version of the Goldmann Applanation Tonometer (Perkins™ tonometer, GAT) in patients with primary congenital glaucoma (PCG) and in healthy subjects. Material and methods: A total of 42 eyes of healthy subjects (G1) and 40 patients with PCG (G2) were analysed. The following clinical data were collected: gender, age, Cup/Disc ratio, central corneal thickness (CCT). IOP was determined in the examination room using the IC200 and GAT tonometers, in the same order. Agreement between both tonometers was determined using the intraclass correlation coefficient (ICC) and Bland-Altman plot. A linear regression analysis was used to establish the IOP was affected by the studied variables. Results: Mean IOP between both tonometers (IC200 minus GAT) was: G1 = 15.91 (2.57) mmHg vs. 15.06 (2.12) mmHg (mean difference, MD = 0.84 (0.50) mmHg; P < .101) and G2=20.10 (6.37) vs.19.12 (5.62) (MD = 0.98 (1.36); P = 0.474). Excellent agreement was found between IC200 and GAT in both groups (ICC = G1: 0.875 (95% CI; 0.768−0.933; P < .001); G2: 0.924 (95% CI; 0.852−0.961; P < .001), and there was a statistically significant correlation between the IOP difference measured with IC200 and GAT and CCT in G1 (B=0.021; 95% CI; 0.005–0.037; P = .008), but was not statistically significant in G2. Conclusions: There was excellent agreement between the IC200 and GAT tonometers, both in healthy subjects and PCG, with a trend to overestimate IOP when measured with IC200. There was no influence by CCT on IOP measurements in patients with PGC.
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    Scheie's line as a first sign of pigment dispersion syndrome
    (Archivos de la Sociedad Española de Oftalmología (English Edition), 2019) Santos Bueso, Enrique; García Sáenz, Sofía; Morales Fernández, Laura; Martínez De La Casa Fernández-Borrella, José María; Sáenz Francés, Federico
    A 50 year old woman was diagnosed with pigment dispersion syndrome (PDS) in the right eye and pigmentary glaucoma in the left eye in a routine medical examination. A line of pigment was observed in the vitreo-lenticular interface (Scheie's line) of the left eye and with an intraocular pressure of 26 mmHg. The Scheie's line (SL) develops by the accumulation of detached iris pigment in PDS and accumulated in the ligament of Wieger that forms the vitreo-lenticular union. The SL is considered a pathognomonic sign of PDS.
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    Quality of life and visual function in children with glaucoma in Spain
    (Archivos de la Sociedad Española de Oftalmología, 2018) Moreno, María Nieves; Morales Fernández, Laura; Ruiz Medrano, Magali; Martínez De La Casa Fernández-Borrella, José María; Madrigal Sánchez, Rebeca; Hernández García, Elena; Gómez de Liaño, Rosario; García Feijoo, Julián
    Objective: To evaluate the effect of glaucoma on visual function, as well as quality of life in children and quality of life perceived by caregivers in children up to 16 years of age. Material and methods: An observational and prospective study was designed using the questionnaire GQL-15 (Glaucoma Quality of Life) and conducted on children and caregivers. The questionnaire VFQ-25 (Visual Functioning Questionnaire) was conducted on children. Different variables of the clinical history that could influence the quality of life and visual function were recorded. Results: The study included 24 patients with a mean age of 9.13 ± 3.08 years, and included 3 with unilateral involvement, and 20 diagnosed with primary congenital glaucoma. Parents reported a worse quality of life than children. The result of the GQL-15 survey was 32.3 ± 11.56 points in children and 37.52 ± 14.59 points in caregivers (P = .001). The parameter most related to quality of life and visual function was the mean deviation (MD) of the visual field in the best eye. A statistically significant correlation was found between the result of GQL-15 and the mean deviation of the visual field (children: R = 0.63, P < .01, caregivers: R = 0.81, P< .001). Conclusions: Functional loss has an impact on the quality of life and visual function in children with glaucoma, although the quality of life perceived by the caregivers is worse than that perceived by the child.
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    Agreement between rebound (Icare ic200) and applanation tonometry (Perkins) in patients with primary congenital glaucoma
    (Acta Ophthalmologica, 2020) Morales Fernández, Laura; Pérez García, Pilar; Sáenz Francés, Federico; Molero Senosiain, Mercedes; García Sáenz, Sofía; Méndez Hernández, Carmen Dora; Santos Bueso, Enrique; García Feijoo, Julián; Martínez De La Casa Fernández-Borrella, José María
    Purpose: To examine agreement between intraocular pressure (IOP) measurements made using the rebound tonometer Icare ic200 (RT200) and the Perkins handheld applanation tonometer (PAT) in patients with primary congenital glaucoma (PCG). The impacts of several covariables on measurements using the two devices were also assessed. Materials and Methods: Intraocular pressure measurements were made in a single session in 86 eyes of 86 patients with PCG (46 under anaesthesia, 40 in the office). The order was RT200 then PAT. The variables age, central corneal thickness (CCT), corneal state and anaesthesia were recorded in each patient. Data were compared by determining interclass correlation coefficients (ICC) for each tonometer and representing the differences detected as Bland–Altman plots. Effects of covariables were assessed through univariate and multivariate regression. Results: Mean IOP difference between tonometers (RT200 minus PAT) was 1.26 mmHg (95%: 0.22–2.31). Absolute agreement (ICC) was 0.73 (95% CI: 0.62–0.82). Lower and upper limits of agreement (95%) were −8.06 mmHg (95% CI: −9.87 to −6.25) and 10.59 mmHg (95% CI: 8.77–12.40), respectively. The tonometers showed systematic differences (a = −4.63 mmHg; 95% CI: −9.11 to −1.44) and proportional differences; for each mmHg increase in PAT‐IOP, the RT200 reading increased by 1.28 mmHg (b = 1.28; 95% CI: 1.12–1.53). None of the variables tested as predictors were able to explain differences between the tonometers. Conclusions: Despite the good overall agreement between both tonometers, caution should be taken in high values of IOP, considering the interchangeability of its readings as systematic and proportional differences appear to exist between both methods.
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    Tear and aqueous humour cytokine profile in primary open‐angle glaucoma
    (Acta Ophthalmologica, 2020) Burgos Blasco, Bárbara; Vidal Villegas, Beatriz; Sáenz Francés, Federico; Morales Fernández, Laura; Perucho González, Lucía; García Feijoo, Julián; Martínez De La Casa Fernández-Borrella, José María
    Purpose: To evaluate the concentrations of pro‐inflammatory cytokines in tear and aqueous humour of patients with primary open‐angle glaucoma (POAG), relative to healthy controls. Method: Tear and aqueous humour samples were collected from 29 healthy controls and 27 POAG patients. Twenty‐seven inflammatory cytokines were analysed: interleukin (IL)‐1β, IL‐1ra, IL‐2, IL‐4, IL‐5, IL‐6, IL‐7, IL‐8, IL9, IL‐10, IL‐12, IL‐13, IL‐15, IL‐17, eotaxin, fibroblast growth factor (FGF) basic, granulocyte colony‐stimulating factor, granulocyte‐monocyte colony‐stimulating factor, interferon (IFN)‐γ, interferon gamma‐induced protein, monocyte chemo‐attractant protein‐1, macrophage inflammatory protein (MIP)‐1α, MIP‐1β, platelet‐derived growth factor, regulated on activation normal T cell expressed and secreted, tumour necrosis factor (TNF)‐α and vascular endothelial growth factor (VEGF). Results: In tear samples of glaucoma patients, an increase in IL‐4, IL‐12, IL‐15, FGF‐basic and VEGF was observed, as well as a decrease in MIP‐1a relative to the control group (p < 0.05). IL‐5, IL‐12, IL‐15, IFN‐γ and MIP‐1a were significantly higher in aqueous humour of glaucoma eyes (p < 0.05). A poor correlation between cytokine levels in tear and aqueous humour was observed. Conclusion: The different profiles of inflammatory marker expression of patients with POAG and healthy controls confirm the inflammatory activity of the pathology, indicating that some of them could be used as potential biomarkers of this disease.
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    Easyton® transpalpebral versus Perkins applanation tonometry in diferent populations
    (International Ophthalmology, 2023) Montolío Marzo, Elena; Morales Fernández, Laura; Saenz Francés San Baldomero, Federico; García Saenz, Sofía; García Feijoo, Julián; Piñero, David P.; Martínez De La Casa Fernández-Borrella, José María
    Objective To compare intraocular pressure (IOP) measurements obtained using the new transpalpebral Easyton® tonometer and Perkins applanation tonometer (PAT) in three different clinical populations. Methods The participants of this prospective study were 84 subjects divided into the groups: 22 healthy children (G1), 42 healthy adults (G2), and 20 adult patients with primary open angle glaucoma (G3). The data recorded in 84 eyes of these subjects were age, sex, gender, central corneal thickness (CCT), and axial length (AL). In all eyes, IOP was determined in the same examination room by the same experienced examiner using Easyton® and PAT in random order. Results Mean differences in IOP readings between Easyton® and PAT were 0.45 ± 1.97 (p = 0.295), − 0.15 ± 2.13 (p = 0.654), − 1.65 ± 3.22 (p = 0.033), and − 0.018 ± 2.50 mmHg (p = 0.500) in the groups G1, G2, G3, and whole sample (G4), respectively. Correlations between Easyton® and PAT IOP values were 0.668 (p = 0.001) for G1, 0.463 (p = 0.002) for G2, 0.680 (p < 0.001) for G3, and 0.605 (p < 0.001) for G4. Moderate to good agreement between the two tonometers was found in all groups according to intraclass correlation coefficients, which were 0.794 (p < 0.001) for G1, 0.632 (p < 0.001) for G2, 0.809 (p < 0.001) for G3, and 0.740 (p < 0.001) for G4. The lower and upper limits of agreement between the devices were − 5.1 and 4.7 mmHg, respectively, in the complete group. No correlation was noted between CCT or AL and the Easyton® IOP measurements. Conclusion IOP measurements obtained with Easyton® and PAT show an acceptable level of agreement mainly in healthy individuals, recommending it for IOP screening in children and in patients in which PAT measurement may be impared as patients with hemifacial spasms, corneal irregularities, or reduced mobility. It is not recommended for glaucoma patients follow-up.
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    Corneal densitometry and biomechanical properties in patients with primary congenital glaucoma
    (Canadian Journal of Ophthalmology, 2021) Morales Fernández, Laura; Benito Pascual, Blanca; Pérez García, Pilar; Perucho González, Lucía; Sáenz Francés, Federico; Santos Bueso, Enrique Miguel; García Bella, Javier; Sánchez Jean, Rubén; García Feijoo, Julián; Martínez De La Casa Fernández-Borrella, José María
    Objective: To describe corneal densitometry, topographic measurements, and biomechanical properties in patients with primary congenital glaucoma (PCG) and healthy patients. To examine correlations between variables and determine their glaucoma diagnostic capacity. Methods: This was a cross-sectional, case-control study conducted in 50 eyes of 50 patients with PCG (G1) and 40 eyes of 40 healthy patients (G2). The variables determined in each participant were: intraocular pressure, best corrected visual acuity (BCVA), corneal densitometry, topographic data using the Pentacam HR-Scheimpflug imaging system (Oculus Optikgerate GmbH, Wetzlar, Germany), and corneal hysteresis (CH) and corneal resistance factor (CRF) using the Ocular Response Analyzer (Reichert Ophthalmic Instruments, Depew, NY). Results: Overall densitometry was significatively higher in the PCG group (G1: 17.94 ± 4.99 vs G2: 13.25 ± 1.96, p < 0.001). CH (G1: 8.02 ± 11.35 vs G2: 11.35 ± 1.42, p < 0.001) and CRF (G1: 9.48 ± 2.83 vs G2: 10.77 ± 1.34, p < 0.001) were lower in the glaucoma group. Mean posterior, central, and anterior elevation and mean keratometry were higher in G1 (p < 0.05). In the PCG group, overall densitometry showed significant correlation with CH (r = –0.321, p = 0.028) and with BCVA (r = −0.498, p = 0.002). AUCs (areas under the curve) for CH and overall densitometry were high (0.839 and 0.899 respectively) and the best overall densitometry; CH and CRF cutoffs were 14.0, 9.3 and 9.2 respectively. Conclusion: Densitometry is increased, and biomechanical corneal properties are decreased in patients with PCG. Densitometry and visual acuity showed a negative and significant correlation, so this measurement could be used as an indirect parameter of BCVA in the clinical practice.