Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy

Autor: Kamron N, Khan, Melissa, Kasilian, Omar A R, Mahroo, Preena, Tanna, Angelos, Kalitzeos, Anthony G, Robson, Kazushige, Tsunoda, Takeshi, Iwata, Anthony T, Moore, Kaoru, Fujinami, Michel, Michaelides
Rok vydání: 2017
Předmět:
Male
RPE
retinal pigment epithelium
genetic structures
Adolescent
DA
dark-adapted
Visual Acuity
PERG
pattern electroretinography
ONL
outer nuclear layer
Retina
Article
LA
light-adapted
Macular Degeneration
cd.s.m−2
candela seconds per meter squared
AOSLO
adaptive optics scanning laser ophthalmoscope
Exome Sequencing
Electroretinography
Humans
Stargardt Disease
Macula Lutea
Fluorescein Angiography
BM
Bruch membrane
Child
Retrospective Studies
FAF
fundus autofluorescence
logMAR
logarithm of the minimum angle of resolution
MEH
Moorfields Eye Hospital
ABCA4
ATP binding cassette
subfamily A
member 4
eye diseases
Ophthalmoscopy
Phenotype
ISCEV
International Society for Clinical Electrophysiology of Vision
Child
Preschool
STGD1
Stargardt disease
ATP-Binding Cassette Transporters
Female
sense organs
Atrophy
ELM
external limiting membrane
Tomography
Optical Coherence
Zdroj: Ophthalmology
ISSN: 1549-4713
Popis: Purpose To describe the earliest features of ABCA4-associated retinopathy. Design Case series. Participants Children with a clinical and molecular diagnosis of ABCA4-associated retinopathy without evidence of macular atrophy. Methods The retinal phenotype was characterized by color fundus photography, OCT, fundus autofluorescence (FAF) imaging, electroretinography, and in 2 patients, adaptive optics scanning laser ophthalmoscopy (AOSLO). Sequencing of the ABCA4 gene was performed in all patients. Main Outcome Measures Visual acuity, OCT, FAF, electroretinography, and AOSLO results. Results Eight children with ABCA4-associated retinopathy without macular atrophy were identified. Biallelic variants in ABCA4 were identified in all patients. Four children were asymptomatic, and 4 reported loss of VA. Patients were young (median age, 8.5 years; interquartile range, 6.8 years) with good visual acuity (median, 0.155 logarithm of the minimum angle of resolution [logMAR]; interquartile range, 0.29 logMAR). At presentation, the macula appeared normal (n = 3), had a subtly altered foveal reflex (n = 4), or demonstrated manifest fine yellow dots (n = 1). Fundus autofluorescence identified hyperautofluorescent dots in the central macula in 3 patients, 2 of whom showed a normal fundus appearance. Only 1 child had widespread hyperautofluorescent retinal flecks at presentation. OCT imaging identified hyperreflectivity at the base of the outer nuclear layer in all 8 patients. Where loss of outer nuclear volume was evident, this appeared to occur preferentially at a perifoveal locus. Longitudinal split-detector AOSLO imaging in 2 individuals confirmed that the greatest change in cone spacing occurred in the perifoveal, and not foveolar, photoreceptors. Electroretinography showed a reduced B-wave–to–A-wave ratio in 3 of 5 patients tested; in 2 children, recordings clearly showed electronegative results. Conclusions In childhood-onset ABCA4-associated retinopathy, the earliest stages of macular atrophy involve the parafovea and spare the foveola. In some cases, these changes are predated by tiny, foveal, yellow, hyperautofluorescent dots. Hyperreflectivity at the base of the outer nuclear layer, previously described as thickening of the external limiting membrane, is likely to represent a structural change at the level of the foveal cone nuclei. Electroretinography suggests that the initial site of retinal dysfunction may occur after phototransduction.
Databáze: OpenAIRE
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