Foveal Sparing in Stargardt Disease

Huet, Ramon A. C. van; Bax, Nathalie M.; Haaften, Sarah C. Westeneng-van; Muhamad, Muhamad; Zonneveld-Vrieling, Marijke N.; Hoefsloot, Lies H.; Cremers, Frans P.M.; Boon, Camiel J F; Klevering, B. Jeroen; Hoyng, Carel B.

doi:10.1167/iovs.13-13825

Cited by 62 publications

(65 citation statements)

References 53 publications

(75 reference statements)

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“…We assessed presence of foveal sparing, which we defined as RPE atrophy encircling a structurally and functionally (BCVA, ‡20/200) preserved fovea by ‡1808, 15 by evaluation of FAF and/or OCT.…”

Section: Clinical Evaluationmentioning

confidence: 99%

“…[5][6][7][8][9][10] A combination of disease-causing ABCA4 alleles may, therefore, result in a severe, early-onset STGD1 phenotype (i.e., onset 10 years of age), 11,12 which is often observed as rapidly progressive cone-rod dystrophy, 5,13 in classical STGD1, 10 or in late-onset STGD1. [14][15][16] In about half of the patients with late-onset STGD1 (onset >44 years of age), only one disease-causing allele was identified, despite the sequence analysis of all coding variants. 16 In carriers of monoallelic ABCA4 variants, the second variant can reside in introns, outside of splice sites, not detected by standard sequencing methods.…”

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confidence: 99%

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The CommonABCA4Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present intransWith Severe Variants

Runhart

Sangermano

Cornelis

et al. 2018

Invest. Ophthalmol. Vis. Sci.

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126

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Section: Clinical Evaluationmentioning

confidence: 99%

mentioning

confidence: 99%

The CommonABCA4Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present intransWith Severe Variants

Runhart

Sangermano

Cornelis

et al. 2018

Invest. Ophthalmol. Vis. Sci.

Self Cite

126

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“…Cases with extensive widespread atrophy with concomitant foveal sparing have also been described, though less frequently. 18,27,28 Foveal sparing was not evaluated in this cohort.…”

Section: Discussionmentioning

confidence: 99%

Peripheral Visual Fields in ABCA4 Stargardt Disease and Correlation With Disease Extent on Ultra-widefield Fundus Autofluorescence

Abalem

Otte

Andrews

et al. 2017

American Journal of Ophthalmology

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Purpose To evaluate the disease extent on ultra-widefield fundus autofluorescence (UWF-FAF) in patients with ABCA4-Stargardt disease (STGD) and correlate this data with functional outcome measures. Design Retrospective cross sectional study Setting Kellogg Eye Center, University of Michigan Study population Sixty-five patients with clinical diagnosis and proven pathogenic variants in the ABCA4 gene. Observational procedures The UWF-FAF images were obtained using Optos 200-degrees and classified into three types. Functional testing included: kinetic widefield perimetry, full-field electroretinogram (ffERG) and visual acuity (VA). All results were evaluated with respect to UWF-FAF classification. Main outcome measures Classification of UWF-FAF; area comprising the I4e, III4e, and IV4e isopters; ffERG patterns; and VA. Results For UWF-FAF, 27 subjects (41.5%) were classified as type I; 17 (26.2 %) as type II; and 21 (32.4%) as type III. The area of each isopter correlated inversely with the extent of the disease and all isopters were able to detect differences among UWF-FAF types (IV4e, p = 0.0013; III4e, p = 0.0003; I4e, p < 0.0001= 3.93e−8). ffERG patterns and VA were also different among the three UWF-FAF types (p < 0.001= 6.61e-6 and p < 0.001= 7.3e−5, respectively). Conclusion Patients with widespread disease presented with more constriction of peripheral visual fields, had more dysfunction on ffERG and worse VA compared to patients with disease confined to the macula. UWF-FAF images may provide information for estimating peripheral and central visual function in STGD.

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“…[9,20] The precise etiology of foveal sparing in STGD1 is unknown but certain theories point to the anatomical factors within this region that impart protective effects--for instance, given the damaging effects of light in the pathogenesis of STGD1[21,22] it has been suggested that the presence of luteal pigment, which absorbs short-wavelength and ultraviolet light, protects this region. [23] Another hypothesis points to the ability of cones to receive 11- cis -retinal from Muller cells enabling the alternative visual cycle, whereas the chromophore in rods is solely derived from the RPE cells which have been found to be significantly affected in STGD1.…”

Section: Discussionmentioning

confidence: 99%

Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy

Nõupuu

Lee

Zernant

et al. 2015

Graefes Arch Clin Exp Ophthalmol

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Purpose To describe a series of Stargardt disease (STGD1) patients exhibiting a phenotype usually associated with hydroxychloroquine (HCQ) retinopathy on spectral domain-optical coherence tomography (SD-OCT). Methods Observational case series from Columbia University Medical Center involving 8 patients with genetically-confirmed STGD1. Patients selected for the study presented no history of HCQ use. Horizontal macular SD-OCT scans and accompanying 488nm autofluorescence (AF) images, color fundus photographs, and full-field electroretinograms were analyzed. Results All study patients exhibited an abrupt thinning of the parafoveal region or disruption of the outer retinal layers on SD-OCT resembling the transient HCQ retinopathy phenotype. Funduscopy and AF imaging revealed variations of bull’s eye maculopathy (BEM). Five patients exhibited local fleck-like deposits around the lesion. Genetic screening confirmed two disease-causing ABCA4 mutations in 5 patients and one mutation in 3 patients. Conclusions A transient SD- OCT phenotype ascribed to patients with HCQ retinopathy is associated with an early subtype of STGD1. This finding may also present with HCQ retinopathy-like BEM lesions on AF imaging and funduscopy. A phenotypic overlap may not be surprising given certain shared mechanistic disease processes between the two conditions. A thorough work-up, including screening of genes that are causal in retinal dystrophies associated with foveal sparing, may prevent the misdiagnoses of more ambiguous cases.

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Foveal Sparing in Stargardt Disease

Cited by 62 publications

References 53 publications

The CommonABCA4Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present intransWith Severe Variants

The CommonABCA4Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present intransWith Severe Variants

Peripheral Visual Fields in ABCA4 Stargardt Disease and Correlation With Disease Extent on Ultra-widefield Fundus Autofluorescence

Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy

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