Journal article
Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis
Investigative ophthalmology & visual science, Vol.51(5), pp.2608-2614
05/2010
DOI: 10.1167/iovs.09-3734
PMCID: PMC2868490
PMID: 19959640
Abstract
To evaluate genotypic and macular morphologic correlations in patients with RPE65-, CEP290-, GUCY2D-, or AIPL1-related Leber congenital amaurosis (LCA) using spectral-domain optical coherence tomography (SD-OCT). SD-OCT macular scans were performed in 21 patients, including 10 with RPE65, 7 with CEP290, 3 with GUCY2D, and 1 with AIPL1 mutations. An image processing software was used to manually draw segmentation lines by three observers. Lamellar structure was evaluated based on the number of retinal layers on segmented images. Total retinal thickness was measured at the central macular and perifoveal areas by using an automated algorithm. All three patients with GUCY2D mutations (age range, 20-53 years) retained six retinal layers with visible photoreceptor inner/outer segment juncture (PSJ). However, the preservation of lamellar structures did not parallel better visual acuity. Patients with other mutations had poorly defined PSJ and disorganized retinal lamellar structures, where only one to three retinal layers could be observed. Patients with CEP290 mutations trended to have retention of the outer nuclear layer at the fovea and macular thickening, especially at younger ages. In patients with RPE65 (age range, 20-71 years) and AIPL1 mutations (age, 22 years), macular thickness was markedly decreased. Disorganization of retinal lamellar structures in the RPE65 group trended toward a worsening with increasing age. Variations of macular microstructures were observed among LCA patients with different genotypes. Disorganization of retinal lamellar structure was generally age related. Preservation of retinal microanatomic structures may not be associated with better visual acuity.
Details
- Title: Subtitle
- Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis
- Creators
- Sirichai Pasadhika - Department of Ophthalmology and Visual Sciences, University of Illinois Medical Center, Chicago, Illinois, USAGerald A FishmanEdwin M StoneMartin LindemanRuth ZelkhaIrma LopezRobert K KoenekoopMahnaz Shahidi
- Resource Type
- Journal article
- Publication Details
- Investigative ophthalmology & visual science, Vol.51(5), pp.2608-2614
- DOI
- 10.1167/iovs.09-3734
- PMID
- 19959640
- PMCID
- PMC2868490
- NLM abbreviation
- Invest Ophthalmol Vis Sci
- ISSN
- 0146-0404
- eISSN
- 1552-5783
- Publisher
- United States
- Grant note
- EY01792 / NEI NIH HHS R01 EY016822 / NEI NIH HHS Howard Hughes Medical Institute P30 EY001792 / NEI NIH HHS EY014275 / NEI NIH HHS EY016822 / NEI NIH HHS R01 EY014275 / NEI NIH HHS
- Language
- English
- Date published
- 05/2010
- Academic Unit
- Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979920702771
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