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Brief Report |

Cone and Rod Loss in Stargardt Disease Revealed by Adaptive Optics Scanning Light Ophthalmoscopy

Hongxin Song, PhD1; Ethan A. Rossi, PhD1; Lisa Latchney, MS2; Angela Bessette, MD2; Edwin Stone, MD, PhD3,4,5; Jennifer J. Hunter, PhD1,6; David R. Williams, PhD1,6; Mina Chung, MD1,2
[+] Author Affiliations
1Center for Visual Science, University of Rochester, Rochester, New York
2Flaum Eye Institute, University of Rochester, Rochester, New York
3Department of Ophthalmology and Visual Sciences, Carver College of Medicine, Iowa City, Iowa
4Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City
5Howard Hughes Medical Institute, University of Iowa, Iowa City
6The Institute of Optics, University of Rochester, Rochester, New York
JAMA Ophthalmol. 2015;133(10):1198-1203. doi:10.1001/jamaophthalmol.2015.2443.
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Importance  Stargardt disease (STGD1) is characterized by macular atrophy and flecks in the retinal pigment epithelium. The causative ABCA4 gene encodes a protein localizing to photoreceptor outer segments. The pathologic steps by which ABCA4 mutations lead to clinically detectable retinal pigment epithelium changes remain unclear. We investigated early STGD1 using adaptive optics scanning light ophthalmoscopy.

Observations  Adaptive optics scanning light ophthalmoscopy imaging of 2 brothers with early STGD1 and their unaffected parents was compared with conventional imaging. Cone and rod spacing were increased in both patients (P < .001) with a dark cone appearance. No foveal cones were detected in the older brother. In the younger brother, foveal cones were enlarged with low density (peak cone density, 48.3 × 103 cones/mm2). The ratio of cone to rod spacing was increased in both patients, with greater divergence from normal approaching the foveal center, indicating that cone loss predominates centrally and rod loss increases peripherally. Both parents had normal photoreceptor mosaics. Genetic testing revealed 3 disease-causing mutations.

Conclusions and Relevance  This study provides in vivo images of rods and cones in STGD1. Although the primary clinical features of STGD1 are retinal pigment epithelial lesions, adaptive optics scanning light ophthalmoscopy reveals increased cone and rod spacing in areas that appear normal in conventional images, suggesting that photoreceptor loss precedes clinically detectable retinal pigment epithelial disease in STGD1.

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Figure 1.
Multimodal Imaging of the Father (I-1), Mother (I-2), and Patients (II-1 and II-2)

A, Fundus photographs. B, In the adaptive optics scanning light ophthalmoscopic (AOSLO) montages superimposed on fundus photographs, the dotted lines indicate the locations of the optical coherence tomographic images above. Yellow squares (B and C) indicate the AOSLO locations shown in D through F. The boxes (D and F) indicate the locations of AOSLO images shown at higher magnification in Figure 2. The scale bar in the AOSLO montage for patient II-2 applies to all of the fundus photographs, and the scale bar in the 1.7-mm AOSLO image for the same patient applies to all of the AOSLO images (D-F). FAF indicates fundus autofluorescence.

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Figure 2.
Photoreceptor Labeling

The adaptive optics scanning light ophthalmoscopic image locations (A, C, and D) correspond to the boxes in Figure 1D and F. A, Red dots indicate foveal cones. B, Open circle indicates the foveal avascular zone center; X, peak cone density; and +, preferred retinal locus. C and D, x indicates cones; red dots, rods.

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Figure 3.
Photoreceptor Spacing

AOSLO indicates adaptive optics scanning light ophthalmoscopy; dashed lines, exponential fit curves for patients II-1 and II-2.

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