Case #24 – Hereditary Maculopathies

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References (cont'd) Johnson S, Michaelides M, Aligianis IA et al. Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. J Med Genet 2004; 41: e20 Barthelmes D, Sutter FK, Kurz-Levin MM et al. Quantitative Analysis of OCT Characteristics in Patients with Achromatopsia and Blue-Cone Monochromatism. Invest Ophthalmol Vis Sci 2006; 47: 1161-1166 Ozdek

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References Fleckenstein M, Issa PC, Helb H-M, Schmitz-Valckenberg S, Finger RP, Scholl HPN, Loeffler KU, Holz FG. High-Resolution Spectral Domain-OCT Imaging in Geographic Atrophy Associated with Age-Related Macular Degeneration. Inves Ophthalmol Vis Sci 2008; 49(9) Suhail A, Zawadzki RJ, Choi S et al. Clinical Application of Rapid Serial Fourier-Domain Optical Coherence Tomography for Macular

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Acknowledgments Sanjeev Nath Jeremy Whitney Kyle Bensinger Sheikh M. Hossain Stephen Tsang Jonathan Greenberg Daniella Rutner

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Lawrence A. Yannuzzi Lawrence A. Yannuzzi, MD is a graduate of Harvard College and Boston University Medical School, where he was honored as a distinguished alumnus. He is the professor of clinical ophthalmology at Columbia University Medical School; vice-chairman and director of the Retinal Research Center of the Manhattan Eye, Ear & Throat

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Jerome Sherman, OD, FAAO Jerome Sherman, O.D., is perhaps optometry's most prolific writer, publishing over 650 clinical articles, research manuscripts, book chapters and two CDs. He is senior author of three books that were published in 2007, and has delivered over three thousand lectures both nationally and internationally. He has served as a contributing

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Comments and Conclusion (cont'd) Although achromatopsia is thought to be a stationary disorder, on SD-OCT examination in a recent study of 40 achromats, initial features of cone cell decay were disruption of the PIL (IS/OS junction or ciliary layer) and the presence of a 'bubble' in the cone outer segments, followed by complete degeneration of

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Comments and Conclusions Achromatopsia, also known as rod monochromatism, is a congenital ocular disorder characterized by total color blindness, low visual acuity, photophobia, and nystagmus. It is inherited as an autosomal recessive trait, with an estimated prevalence of 1/30,000.6 Complete achromatopsia is associated with total lack of color vision due to the loss of functioning

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Case 9: Fundus Albi with Cone Dystrophy Cirrus™ HD-OCT Images OU Case 9: A 64-year-old male who first noticed difficulty with night vision at about age 9 and difficulty reading and seeing faces at age 18 or so. BCVA measured 20/400 OU. OCT sections of the atrophic central lesion reveal a very thin

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Case 9: RNFL measurements with Cirrus™ HD-OCT For a complete case report on this patient please see: Retina Revealed Case #14 - Stargardt Plus Glaucoma

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