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Title: Utilizing advanced technology to facilitate diagnosis of rare retinal disorders : a case of Bietti crystalline dystrophy
Authors: Choi, KY 
Wong, HHY 
Issue Date: Sep-2021
Source: Optometry and vision science, Sept 2021, v. 98, no. 9, p. 1031-1038
Abstract: SIGNIFICANCE: Optometrists, as primary eye care providers, encounter patients with rare ocular disease such as Bietti crystalline dystrophy from time to time. Using advanced technologies, which are also useful in managing common ocular conditions, to facilitate a prompt diagnosis is highly recommended.
PURPOSE: This report describes a patient with clinically diagnosed Bietti crystalline dystrophy with findings on funduscopy, multimodal imaging, and visual electrophysiology.
CASE REPORT: A 41-year-old Chinese woman who had subjectively progressing dimmed vision (especially in the left eye) for 9 months was referred to our clinic to test for retinitis pigmentosa. Best-corrected visual acuities were 6/6 and 6/7.6 in the right and left eyes, respectively. Funduscopy revealed multiple crystalline deposits on the posterior pole in both eyes. The 30-2 perimetry displayed bi-inferotemporal scotoma (left > right eye). Scotopic flash electroretinogram (ERG) yielded a normal result, whereas photopic ERG was slightly attenuated. Electro-oculogram showed an abnormal adaptation time course of the retinal pigmented epithelium (RPE). Multifocal ERG revealed a decreased central retinal response, but paracentral responses were relatively better preserved. Optical coherence tomography showed multiple patches of RPE atrophy, with disruption of the left ellipsoid zone. Outer retinal tubulations, hyperreflective dots on RPE–Bruch's membrane interface, and intraretinal bright spots were also identified.
CONCLUSIONS: Rare ocular diseases like Bietti crystalline dystrophy can be encountered by optometrists. This case report shows the ophthalmic findings of a rare chorioretinal dystrophy and provides insight on how to better use advanced equipment in an optometric practice to facilitate prompt diagnoses.
Publisher: Lippincott Williams & Wilkins
Journal: Optometry and vision science 
ISSN: 1040-5488
EISSN: 1538-9235
DOI: 10.1097/OPX.0000000000001763
Rights: © 2021 American Academy of Optometry
This is a non-final version of an article published in final form in Choi, Kai Yip, Wong, Horace Ho Yin, Chan, Henry Ho Lung. Utilizing Advanced Technology to Facilitate Diagnosis of Rare Retinal Disorders: A Case of Bietti Crystalline Dystrophy. Optometry and Vision Science 98(9):p 1031-1038, September 2021. DOI: 10.1097/OPX.0000000000001763. Optometry and Vision Science is available at
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