April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Preserved Island of Macular Retinal Structure in a Patient with Advanced RPE65-related Leber Congenital Amaurosis
Author Affiliations & Notes
  • Daniel C. Chung
    Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania
  • Kathleen Marshall
    Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
  • Jean Bennett
    Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania
  • Footnotes
    Commercial Relationships  Daniel C. Chung, None; Kathleen Marshall, None; Jean Bennett, None
  • Footnotes
    Support  K08 EY017024, Center for Cellular and Molecular Therapeutics (Children’s Hospital of Philadelphia) EY11115, Hope for Vision Foundation, Ira Rosenmertz/Fidelity Charitable Trust, FFB Center grant C
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 1030. doi:
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      Daniel C. Chung, Kathleen Marshall, Jean Bennett; Preserved Island of Macular Retinal Structure in a Patient with Advanced RPE65-related Leber Congenital Amaurosis. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1030.

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Abstract

Purpose: : To report the presence of islands of retained macular retinal structure with limited function as verified by spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) and Goldmann visual field testing in the untreated retina of a subject with advanced RPE65-related Leber Congenital Amaurosis.

Methods: : An adult subject diagnosed with advanced Leber Congenital Amaurosis and harboring mutations in the RPE65 gene was evaluated. The subject received full ophthalmologic examinations and secondary testing including, SD-OCT, FAF, Goldman visual field testing, and pupillary light reflex testing. Retinal imaging and testing results were analyzed for preserved retinal structure and correlated to Goldmann visual field results.

Results: : SDOCT imaging documented isolated regions in the macula with preserved retinal architecture. FAF imaging of the same regions reveals autofluorescence of retinal pigment epithelial cells (RPE). Regions of intact retinal structure found with SDOCT correlate with regions with RPE autofluorescence. Goldmann visual field testing revealed islands of retina that responded to the high intensity light stimulus and these mapped to areas of normal retina structure and autofluorescence.

Conclusions: : In this subject with advanced RPE65 LCA, isolated islands of macular retinal tissue were preserved. SDOCT and FAF imaging studies verify retinal structure and RPE autofluorescence, respectively. By then correlating visual field testing to these imaging studies, we conclude that there is correlation between SDOCT/FAF imaging and visual function, thereby indicating that SDOCT/FAF imaging could possibly be indicative of visual function.

Keywords: retinal degenerations: cell biology • retinal pigment epithelium • clinical (human) or epidemiologic studies: natural history 
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