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2 results on '"Varela-Conde Y"'

1. Transforming growth factor beta-induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients

Author

Campos-Mollo E, Varela-Conde Y, Arriola-Villalobos P, Cabrera-Beyrouti R, Benítez-Del-Castillo JM, Maldonado MJ, and Escribano J

Subjects
corneal dystrophy, genetic analysis, eye diseases, clinical genetics
Abstract

Importance Rare transforming growth factor beta-induced (TGFBI) gene variants are involved in autosomal dominant corneal dystrophies (CDs) with heterogeneous clinical features. Background The purpose of this study was to analyse TGFBI gene variants and genotype-phenotype correlations in a cohort affected by atypical stromal CD. Design Retrospective cohort study (from May 2014 to September 2017). Participants Thirty-five individuals from 10 unrelated South European families presenting atypical lattice CD (LCD) were included. Methods Corneal phenotypes were assessed by slit-lamp examination and optical coherence tomography (OCT). Contrast sensitivity was measured under mesopic conditions. Genomic DNA was obtained from blood samples, and all 17 TGFBI exons were screened for variants by Sanger sequencing. Main Outcome Measures p.(L558P) variant of TGFBI gene. Results The p.(L558P) variant was identified in 22 members of the 10 families diagnosed with atypical LCD, characterized by late-onset and absence of recurrent erosion syndrome. OCT revealed punctiform deposits in the deep-mid stroma and normal anterior stroma. This variant was demonstrated to be transmitted with the disease according to autosomal dominant inheritance in most families. Conclusions and Relevance To the best of our knowledge, we describe a detailed clinical characterization of the largest CD cohort carrying the TGFBI p.(L558P) variant. We propose that the atypical phenotype of this recently reported alteration can be classified as a form of LCD type IV. The results show that OCT and anterior-posterior analysis of the stromal location of the opacities, along with a genetic analysis of TGFBI, are required to ensure accurate diagnosis and management of CDs.

Published
2019

2. Ocular emergencies presenting to an emergency department in Central Spain from 2013 to 2018.

Author

Galindo-Ferreiro A, Sanchez-Tocino H, Varela-Conde Y, Diez-Montero C, Belani-Raju M, García-Sanz R, Diego-Alonso M, LLorente-Gonzalez I, Pazó-Jaudenes C, and Schellini S

Subjects
Adolescent, Adult, Aged, Female, Follow-Up Studies, Humans, Incidence, Male, Middle Aged, Retrospective Studies, Spain epidemiology, Young Adult, Emergencies epidemiology, Emergency Service, Hospital statistics & numerical data, Eye Diseases epidemiology
Abstract

Purpose: To determine the frequency of ocular conditions among patients presenting to an emergency department at a tertiary hospital in Spain., Methods: A retrospective, longitudinal analysis of all patients who presented to the ocular emergency department of Rio Hortega University Hospital, Valladolid, Spain, from 2013 to 2018 was performed. Data on demographics, ophthalmic examination, and diagnosis were collected. Diseases were classified according the International Classification of Diseases, Ninth Revision, Clinical Modification codes., Results: We had 20,822 patients, of which 10,878 (52.2%) were women. The main age categories were 45-65 years (7391 patients; 35.5%) and 15-45 years (5979 patients; 28.2%). Most of the patients (17,793; 85.5%) were discharged on the same day. Conjunctival pathology was the most common cause of presentation (4110; 19.7%), followed by corneal disorders (4025; 19.3%). Acute conjunctivitis was diagnosed in 2920 (14%) and ocular trauma in 2125 (10.2%) patients. Non-emergency ophthalmic conditions were diagnosed in 1581 (7.6%) patients. Retinal detachments and peripheral holes occurred more commonly in patients aged 45-65 years ( p  <0.001). Corneal or conjunctival disorders and lid inflammation ( p  <0.001) were more frequent in women, whereas men had higher incidences of trauma ( p  <0.001)., Conclusion: Most of our patients presented ocular surface diseases. Men were more vulnerable to trauma, mainly superficial foreign body. The majority of the patients presented with uncomplicated ocular conditions that would be managed more cost-effectively by primary health care providers. We advocate greater education of primary care physicians and patients in managing simple ocular emergencies to reduce the cases presenting to an emergency department of a tertiary hospital.

Published
2021
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