Ophthalmic Surgery, Lasers and Imaging Retina

Imaging Case Report 

Autofluorescence and High-Resolution OCT Findings Revealed Ciliopathy in Senior-Loken Syndrome

Stephen H. Tsang, MD, PhD; Nan-Kai Wang, MD; Wener Cella, MD; Lawrence A. Yannuzzi, MD; Joaquin Tosi, MD; Wener Cella, MD

Abstract

Full text of this article can be found in the PDF.

To describe novel findings on fundus autofluorescence (FAF) and high-resolution optical coherence tomography (OCT) in a 27-year-old woman with the Senior-Loken syndrome (SLSN) emphasizing the photoreceptors’ cilia appearance in the macula. The patient had renal transplantation early in life and poor visual acuity due to advanced autosomal recessive retinitis pigmentosa. FAF showed diffuse spots of decreased autofluorescence in the mid-periphery and a perifoveal ring of increased autofluorescence suggesting a bull’s eye maculopathy. High-resolution OCT revealed a barely detectable inner–outer photoreceptor segment junction in the central macula corresponding to the area inside of the ring of increased autofluorescence, suggesting initial ciliary junction disorganization before photoreceptors death. Non-invasive technologies can monitor central photoreceptors cilliary anatomy enabling early detection of cell disorganization in diseases involving ciliopathy such as the Senior-Loken syndrome are concluded.

Abstract

Full text of this article can be found in the PDF.

To describe novel findings on fundus autofluorescence (FAF) and high-resolution optical coherence tomography (OCT) in a 27-year-old woman with the Senior-Loken syndrome (SLSN) emphasizing the photoreceptors’ cilia appearance in the macula. The patient had renal transplantation early in life and poor visual acuity due to advanced autosomal recessive retinitis pigmentosa. FAF showed diffuse spots of decreased autofluorescence in the mid-periphery and a perifoveal ring of increased autofluorescence suggesting a bull’s eye maculopathy. High-resolution OCT revealed a barely detectable inner–outer photoreceptor segment junction in the central macula corresponding to the area inside of the ring of increased autofluorescence, suggesting initial ciliary junction disorganization before photoreceptors death. Non-invasive technologies can monitor central photoreceptors cilliary anatomy enabling early detection of cell disorganization in diseases involving ciliopathy such as the Senior-Loken syndrome are concluded.

Authors

From the Bernard & Shirlee Brown Glaucoma Laboratory (WC, N-KW, JT, SHT), Edward S. Harkness Eye Institute and Department of Pathology & Cell Biology, Columbia University; Vitreous, Retina, Macula Consultants of New York (LHL, LAY); The LuEsther T. Mertz Retinal Research Center (LAY), Manhattan Eye, Ear, and Throat Hospital, New York, New York; Department of Ophthalmology (N-KW), Chang Gung Memorial Hospital at Linkou; Chang Gung University of Medicine (N-KW), Taoyuan; and the Department of Anatomy and Cell Biology (N-KW), National Taiwan University, Taipei, Taiwan.

Accepted for publication July 16, 2009. Posted online February 15, 2010.

The authors have no financial or proprietary interest in the materials presented herein.

Address correspondence to Stephen H. Tsang, MD, PhD, Edward S. Harkness Eye Institute, Columbia University, 160 Fort Washington Avenue, Room 513, New York, NY 10032.

10.3928/15428877-20100215-55

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