Visual Psychophysics / Physiological Optics - ARVO

ARVO 2013 Annual Meeting Abstracts by Scientific Section/Group – Visual Psychophysics / Physiological OpticsCommercial Relationships: Sung Pyo Park, None; In HwanHong, None; Winston Lee, None; Marcela Marsiglia, None;Takeshi Kitamura, Canon U.S.A., Inc. (E); Stephen H. Tsang,None; Stanley Chang, Alcon Laboratories (C), Alimera Sciences (C)Program Number: 3449 Poster Board Number: C0170Presentation Time: 11:00 AM - 12:45 PMDisruption of the Human Cone Photoreceptor Mosaic from aDefect in NR2E3 Transcription Factor FunctionFrank S. Siringo 1 , Sung Pyo Park 1, 2 , In Hwan Hong 2 , Stephen H.Tsang 1, 3 , Winston Lee 1 , Jason Horowitz 1 , Rando Allikmets 1 , StanleyChang 1 , Suzanne Yzer 4, 1 . 1 Ophthalmology, Columbia UniversityMedical Center, Fort Lee, NJ; 2 Ophthalmology, Kangdong SacredHeart Hospital, Hallym University Medical Center, Seoul, Republicof Korea; 3 Pathology & Cell Biology, Columbia University MedicalCenter, New York, NY; 4 Ophthalmology, Rotterdam Eye Hospital,Rotterdam, Netherlands.Purpose: Enhanced S-cone syndrome is an orphan disease caused bymutations in the NR2E3 gene, which results in an increased numberof S-cones overpopulating the retina. Although the characteristiconset of enhanced S-cone syndrome can be well documented bycurrent ophthalmic imaging modalities, techniques such as spectraldomain optical coherence tomography (SD-OCT) and scanning laserophthalmoscopy (SLO) fail to provide sufficient details regarding themicrostructure of photoreceptors in retinal diseases. Adaptive optics(AO) provides a unique opportunity to analyze the effects of geneticmutations on photoreceptors by compensating for aberrations in thehuman eye.Methods: 3 eyes of 3 patients with enhanced S-cone syndrome werestudied by clinical examination, genetic screening, fundusautofluorescence (FAF) imaging, SD-OCT, and electroretinography(ERG). Cone mosaic imaging was accomplished by an AO-SLOequipped with a dual crystal on silicon spatial light modulator.Qualitative image analyses and genetic findings were investigated ineach patient.Results: The diagnosis was confirmed by ERG and genetic analysis.Two disease-causing mutations in the NR2E3 gene were identified on2 study patients, as well as a novel mutation (202 A>G, S68G) in thethird. Fundus photograph, FAF and SD-OCT found a rosette-likelesion within the mid-periphery along the vascular arcades of theretina. In all AO-SLO images, sparse distribution and asymmetricsize of cone mosaic pattern were found within central retina. Therewere regions of dark space between groups of photoreceptors,distinguishable from shadowing and artifacts.Conclusions: AO-SLO provided an in-depth window into the retinaof enhanced S-cone syndrome patients beyond the ability of othercurrent imaging modalities. Dark lesions within the central retinacontain structurally dysfunctional cones, which account for retinalmosaic disorganization and may predispose affected areas to otherabnormalities such as rosettes. AO-SLO can be an efficientdiagnostic tool in clinics for examining cellular-level pathologies invarious retinal dystrophies.Commercial Relationships: Frank S. Siringo, None; Sung PyoPark, None; In Hwan Hong, None; Stephen H. Tsang, None;Winston Lee, None; Jason Horowitz, None; Rando Allikmets,None; Stanley Chang, Alcon Laboratories (C), Alimera Sciences(C); Suzanne Yzer, NoneProgram Number: 3450 Poster Board Number: C0171Presentation Time: 11:00 AM - 12:45 PMCellular Imaging after Remission from Diabetic Macular EdemaChing-Lung Chen 1, 2 , Sung Pyo Park 1, 3 , Takeshi Kitamura 4 , StanleyChang 1 . 1 OPhthalmology, Columbia university medical center, Newyork, NY; 2 Department of Ophthalmology, Chang Gung MemorialHospital, Chiayi, Taiwan; 3 Department of Ophthalmology, HallymUniversity Medical Center, Seoul, Republic of Korea; 4 HealthcareSolutions Division, Canon, New york, NY.Purpose: To evaluate structural differences in the patient recoveredfrom diabetic macular edema by using multimodal non-invasiveimaging methods, including adaptive optics scanning laserophthalmoscopy (AO-SLO).Methods: An eighty-one year old Indian male suffered from diabeticretinopathy with macular edema. Following resolution of the macularedema in one eye, the visual acuity did not recover fully. The patientunderwent a complete ophthalmic examination that included funduscolor photography, IR imaging, OCT. High-resolution image of conestructure and measurement of the number and shape of cones wasinvestigated by AO-SLO. After 14 months, the patient received thesame examination. For the accurate analysis of condition of conecells, we focused on the same portions of macula by manualestimation.Results: OCT revealed no macular edema with a central thickness of231um in his right eye and central thickness of 289 um with inferior0.5mm local edema of 352um in his left eye. 14 months later, OCTshowed no specific difference on the right eye with central thicknessof 229 um, but the central and inferior 0.5mm thickness had declinedto 275 um and 339 um. Central vision metamorphopsia had almost©2013, Copyright by the Association for Research in Vision and Ophthalmology, Inc., all rights reserved. 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