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An Overview of Rare and Unusual Clinical Features of Bietti's Crystalline Dystrophy.

Abstract
Bietti's crystalline dystrophy (BCD) is a rare disease presenting with the appearance of intraretinal crystalline deposits and varying degrees of chorioretinal atrophy commencing at the posterior pole. Within time, intraretinal crystals gradually disappear and chorioretinal atrophy extends beyond the macula even resulting in complete chorioretinal atrophy. Concomitant corneal crystals can be noted in 1/2 - 1/3 of the patients, and the presence of corneal crystals is not a must for establishing the diagnosis. For the past decade, genetic evaluations and newer imaging modalities expand our knowledge about the disease. CYP4V2 gene is found to be the gene responsible for the disease process and new mutations are still being described. Modern imaging modalities, such as a spectral domain optical coherence tomography (SD-OCT) shed light on the anatomic features of the disease. By this, we reiterate the rare and unusual clinical features of BCD.
AuthorsAli Osman Saatci, Hasan Can Doruk
JournalMedical hypothesis, discovery & innovation ophthalmology journal (Med Hypothesis Discov Innov Ophthalmol) Vol. 3 Issue 2 Pg. 51-6 ( 2014) ISSN: 2322-4436 [Print] United States
PMID25738160 (Publication Type: Journal Article, Review)

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