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Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
Invest Ophthalmol Vis Sci 2010; 51(5):2608-14IO

Abstract

PURPOSE

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).

METHODS

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.

RESULTS

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.

CONCLUSIONS

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.

Authors+Show Affiliations

Department of Ophthalmology and Visual Sciences, University of Illinois Medical Center, Chicago, Illinois, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.

Language

eng

PubMed ID

19959640

Citation

Pasadhika, Sirichai, et al. "Differential Macular Morphology in Patients With RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber Congenital Amaurosis." Investigative Ophthalmology & Visual Science, vol. 51, no. 5, 2010, pp. 2608-14.
Pasadhika S, Fishman GA, Stone EM, et al. Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2010;51(5):2608-14.
Pasadhika, S., Fishman, G. A., Stone, E. M., Lindeman, M., Zelkha, R., Lopez, I., ... Shahidi, M. (2010). Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. Investigative Ophthalmology & Visual Science, 51(5), pp. 2608-14. doi:10.1167/iovs.09-3734.
Pasadhika S, et al. Differential Macular Morphology in Patients With RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber Congenital Amaurosis. Invest Ophthalmol Vis Sci. 2010;51(5):2608-14. PubMed PMID: 19959640.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. AU - Pasadhika,Sirichai, AU - Fishman,Gerald A, AU - Stone,Edwin M, AU - Lindeman,Martin, AU - Zelkha,Ruth, AU - Lopez,Irma, AU - Koenekoop,Robert K, AU - Shahidi,Mahnaz, Y1 - 2009/12/03/ PY - 2009/12/5/entrez PY - 2009/12/5/pubmed PY - 2010/5/21/medline SP - 2608 EP - 14 JF - Investigative ophthalmology & visual science JO - Invest. Ophthalmol. Vis. Sci. VL - 51 IS - 5 N2 - PURPOSE: 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). METHODS: 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. RESULTS: 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. CONCLUSIONS: 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. SN - 1552-5783 UR - https://www.unboundmedicine.com/medline/citation/19959640/Differential_macular_morphology_in_patients_with_RPE65__CEP290__GUCY2D__and_AIPL1_related_Leber_congenital_amaurosis_ L2 - http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.09-3734 DB - PRIME DP - Unbound Medicine ER -