Artikel ; Online: Novel
European journal of ophthalmology
2023 Band 34, Heft 2, Seite(n) NP1–NP4
Abstract: Introduction: Adult-onset vitelliform macular dystrophy (AVMD) is an inherited maculopathy characterized by metamorphopsias and decrease in visual acuity occurring between the fourth and the sixth decade. It is characterized by an 'egg yolk' macular ... ...
Abstract | Introduction: Adult-onset vitelliform macular dystrophy (AVMD) is an inherited maculopathy characterized by metamorphopsias and decrease in visual acuity occurring between the fourth and the sixth decade. It is characterized by an 'egg yolk' macular lesion eventually evolving towards foveal atrophy and fibrosis. It is usually an autosomal dominant inherited disorder with variable penetrance, mainly related to variants in Case description: A 47-year-old woman complaining of "wavy" vision was referred to our clinic. Her past medical history and reported family history did not reveal any ocular disease. Complete ophthalmological evaluation was performed. Funduscopic examination and multimodal imaging revealed a round vitelliform lesion in both eyes, leading to a diagnosis of AVMD. Genetic analysis revealed a novel, likely pathogenetic, heterozygous c.478G > T (p.Glu160Ter), (NM_016247) variant in the Discussion: Our patient exhibits a novel pathogenetic variant in a gene associated with AVMD. Heterozygous variants in the |
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Mesh-Begriff(e) | Female ; Humans ; Middle Aged ; Bestrophins/genetics ; Extracellular Matrix Proteins/genetics ; Eye Proteins/genetics ; Genetic Testing ; Mutation ; Phenotype ; Proteoglycans/genetics ; Retina/pathology ; Tomography, Optical Coherence ; Vision Disorders ; Vitelliform Macular Dystrophy/diagnosis ; Vitelliform Macular Dystrophy/genetics |
Chemische Substanzen | BEST1 protein, human ; Bestrophins ; Extracellular Matrix Proteins ; Eye Proteins ; IMPG1 protein, human ; IMPG2 protein, human ; Proteoglycans |
Sprache | Englisch |
Erscheinungsdatum | 2023-09-03 |
Erscheinungsland | United States |
Dokumenttyp | Case Reports ; Journal Article |
ZDB-ID | 1089461-5 |
ISSN | 1724-6016 ; 1120-6721 |
ISSN (online) | 1724-6016 |
ISSN | 1120-6721 |
DOI | 10.1177/11206721231199850 |
Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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