Retinal dysfunction characterizes subtypes of dominant optic atrophy
| Autor: | Francesco Bandello, Piero Barboni, Valerio Carelli, Costanza Lamperti, Lucia Ziccardi, Giacinto Triolo, Maria Lucia Cascavilla, Vincenzo Parisi, Enrico Borrelli, Stefania Bianchi Marzoli, Fatima Darvizeh, Nicole Balducci, Alfredo A. Sadun, Antonio Di Renzo |
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| Přispěvatelé: | Cascavilla, Maria Lucia, Parisi, Vincenzo, Triolo, Giacinto, Ziccardi, Lucia, Borrelli, Enrico, Di Renzo, Antonio, Balducci, Nicole, Lamperti, Costanza, Bianchi Marzoli, Stefania, Darvizeh, Fatima, Sadun, Alfredo A., Carelli, Valerio, Bandello, Francesco, Barboni, Piero |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Male
Retinal Ganglion Cells genetic structures Gene mutation OPA1 gene GTP Phosphohydrolases Retinal topography chemistry.chemical_compound 0302 clinical medicine Missense mutation dominant optic atrophy Child medicine.diagnostic_test General Medicine Middle Aged Visual field medicine.anatomical_structure Female Haploinsufficiency Adult medicine.medical_specialty Dominant optic atrophy Adolescent Retina 03 medical and health sciences Atrophy Retinal Diseases Ophthalmology Optic Atrophy Autosomal Dominant medicine Electroretinography Humans Aged Photoreceptor business.industry Retinal medicine.disease photoreceptor eye diseases chemistry retinal topography Mutation 030221 ophthalmology & optometry multifocal electroretinogram Multifocal electroretinogram Visual Fields business 030217 neurology & neurosurgery |
| DOI: | 10.1111/(ISSN)1755-3768 |
| Popis: | Purpose: To assess preganglionic retinal function using multifocal electroretinogram (mfERG) in patients affected by dominant optic atrophy (DOA) stratified by OPA1 gene mutation. Methods: Multifocal electroretinogram (mfERG) was recorded in 18 DOA patients (DOA group, 35 eyes) and 25 age-matched healthy subjects (control group, 25 eyes). Patients were stratified in two groups based on gene mutation: missense mutation (DOA-M group, 11 eyes) and mutation causing haploinsufficiency (DOA-H group, 24 eyes). The mfERG N1-P1 response amplitude density (RAD) has been evaluated in five annular retinal areas with different eccentricity from the fovea (ring 1: 0â5 degrees, R1; ring 2: 5â10 degrees, R2; ring 3: 10â15 degrees, R3; ring 4: 15â20 degrees, R4; and ring 5: 20â25 degrees, R5) and in eight sectors on the basis of the retinal topography: temporalâsuperior (TS), temporalâinferior (TI), nasalâsuperior (NS) and nasalâinferior (NI), temporal (T), superior (S), nasal (N) and inferior (I). Results: Compared to controls, DOA group revealed a significant reduction in N1-P1 RADs values in R1-R4 rings and in TI, NS and N sectors [analysis of variance (ANOVA), p |
| Databáze: | OpenAIRE |
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