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Macular involvement in congenital aniridia.
Arch Soc Esp Oftalmol (Engl Ed)
November 2021
Unidad de Córnea, Cataratas y Cirugía Refractiva de Vissum (Grupo Miranza), Alicante, Spain; Departamento de Oftalmología, Patología y Cirugía, Universidad Miguel Hernández, Alicante, Spain.
This review updates the knowledge about the morphological assessment of the foveal hypoplasia in congenital aniridia and resumes the reported genotype-phenotype correlations known to date. Congenital aniridia is a pan ocular disease. Although iris absence is considered the hallmark of this entity, foveal hypoplasia is present in 94.
View Article and Find Full Text PDFAniridia and the ocular surface: Medical and surgical problems and solutions.
Arch Soc Esp Oftalmol (Engl Ed)
November 2021
Instituto Universitario de Oftalmobiología Aplicada (IOBA) de la Universidad de Valladolid, Servicio de Oftalmología del Hospital Clínico Universitario de Valladolid, Valladolid, Spain.
Congenital aniridia is a multisystemic genetic disease due to a mutation in PAX6 gene which severely affects the development and functionality of the human eyes. In patients affected by the mutation, aside from the absence or defects of iris tissue formation, abnormalities in position or opacities of the crystalline lens, macular hypoplasia, ocular surface disease is the main cause of visual loss and the deterioration of the quality of life of most patients. Limbal stem cell deficiency combined with tear film instability and secondary dry eye cause aniridic keratopathy which, in advanced stages, ends up in corneal opacification.
View Article and Find Full Text PDFCorneal Epithelial Stem Cells-Physiology, Pathophysiology and Therapeutic Options.
Cells
September 2021
Department of Ophthalmology, University Medical Center, Johannes Gutenberg University Mainz, Langenbeckstrasse 1, 55131 Mainz, Germany.
In the human cornea, regeneration of the epithelium is regulated by the stem cell reservoir of the limbus, which is the marginal region of the cornea representing the anatomical and functional border between the corneal and conjunctival epithelium. In support of this concept, extensive limbal damage, e.g.
View Article and Find Full Text PDFGenetics and epidemiology of aniridia: Updated guidelines for genetic study.
Arch Soc Esp Oftalmol (Engl Ed)
July 2021
Departamento de Genética, Hospital Universitario Fundación Jiménez Díaz, Madrid, España; Área de Genética & Genómica, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, España; Centro de Investigación en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, España. Electronic address:
Aniridia is a panocular disease characterized by iris hypoplasia, accompanied by other ocular manifestations, with a high clinical variability and overlapping with different abnormalities of the anterior and posterior segment. This review focuses on the genetic features of this autosomal dominant pathology, which is caused by the haploinsufficiency of the PAX6 gene. Mutations causing premature stop codons are the most frequent among the wider mutational spectrum of PAX6, with more than 600 different mutations identified so far.
View Article and Find Full Text PDFMacular involvement in congenital aniridia.
Arch Soc Esp Oftalmol (Engl Ed)
March 2021
Unidad de Córnea, Cataratas y Cirugía Refractiva de Vissum (Grupo Miranza), Alicante, España; Departamento de Oftalmología, Patología y Cirugía, Universidad Miguel Hernández, Alicante, España.
This review updates the knowledge about the morphological assessment of the foveal hypoplasia in Congenital Aniridia and resumes the reported genotype-phenotype correlations known to date. Congenital Aniridia is a pan ocular disease. Although iris absence is considered the hallmark of this entity, foveal hypoplasia is present in 94.
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