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Y. Chen, S. Sundquist, A. Solovyev, C. Nakanishi, Y. Zhang, R. Ayyagari, A. Roorda, J. L. Duncan; High-Resolution in vivo Imaging in Patients With Stargardt Disease. Invest. Ophthalmol. Vis. Sci. 2009;50(13):3501.
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© ARVO (1962-2015); The Authors (2016-present)
To correlate macular cone photoreceptor structure in patients with Stargardt disease (STGD) with visual function and fundus autofluorescence (AF).
High-resolution images of the macula were obtained with Adaptive Optics Scanning Laser Ophthalmoscopy (AOSLO) and spectral domain optical coherence tomography (SDOCT) in 5 patients with STGD and 10 age-similar normal subjects. Measures of retinal structure and fundus autofluorescence (AF) were correlated with visual function including visual acuity (VA), color vision, kinetic and static perimetry, fundus-guided microperimetry and full-field and multifocal electroretinography. Mutation analysis of the ABCA4 gene was carried out by sequencing the complete coding region in 4 of the 5 STGD patients.
STGD patients were 15-25 years old and exhibited 3 distinct AF patterns. Pattern 1 showed reduced central AF with mottled AF throughout the macula; it was found in two siblings with compound heterozygous mutations in ABCA4 (Pro 1486 Leu and 6 base insertion+32 base deletion at base 672) and VA reduced to 20/40 and 20/160 in the older and younger sibling, respectively. Pattern 1 showed multiple foci of reduced AF that decreased with eccentricity, with foci of increased AF peripheral to the reduced AF. Pattern 2 showed extensive, uniformly mottled AF throughout the posterior pole, with foci of increased and reduced AF that concealed the anatomic fovea. Pattern 2 was present in 2 unrelated patients, 1 with VA of 20/63 and a heterozygous Glu1412Stop mutation in ABCA4, and 1 with VA of 20/200 who has not undergone genetic testing. Pattern 3 showed reduced central AF with few adjacent foci of increased AF, and was found in 1 patient with VA of 20/100 and a heterozygous Gly863Ala mutation in ABCA4. AOSLO images of all patients revealed increased cone spacing with irregular packing centrally in regions of relative scotoma, although unambiguous cones were not visualized in regions of dense scotoma and reduced AF. Near the optic nerve, AF, cone spacing and cone packing were preserved in all patients.
AOSLO imaging demonstrated the first high-resolution microscopic images of cones in STGD patients. Central scotomas corresponded to reduced AF. Where unambiguous cones were visualized, AF, cone spacing and cone packing were abnormal in regions of relative scotoma. However, cone spacing and AF were relatively preserved adjacent to the optic nerve.
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