Optical coherence tomography and optical coherence tomography angiography imaging in Bietti crystalline dystrophy

Demir, Semra Tiryaki; Yeşiltaş, Sümeyra Keleş; Kacar, Hakan; Akbas, Emine Betül; Güven, Dilek

doi:10.1080/13816810.2020.1750036

Cited by 8 publications

(7 citation statements)

References 14 publications

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“…The clinical findings are mostly consistent with previous reports of fundus appearance with multiple glistering crystals located on the retinal pigment epithelium–Bruch's membrane interface, observed using optical coherence tomography and other optical coherence tomography findings, including retinal pigment epithelium atrophy, outer retinal tubulations, and intraretinal bright spots 9,10 . The absence of corneal crystals in this case was also in line with the previously reported high prevalence of purely retinal involvement in Asians 3 .…”

Section: Discussionsupporting

confidence: 92%

“…4 Because fundoscopy findings can sometimes be misidentified as other less significant signs, such as scattered drusen, the use of proper clinical equipment can facilitate a more accurate diagnosis. 9,10 In this case, the patient was referred to the clinic to check for retinitis pigmentosa, for which a full-field electroretinogram and electro-oculogram were ordered at the first visit, as in regular cases. However, the result of her full-field electroretinogram seemed normal, especially in scotopic condition, whereas the electro-oculogram was compromised, which has previously been reported as an atypical form of electroretinal responses found in Bietti crystalline dystrophy.…”

Section: Discussionmentioning

confidence: 99%

“…An early diagnosis of Bietti crystalline dystrophy may sometimes be difficult because of the asymptomatic nature of the early stages 4 . Because fundoscopy findings can sometimes be misidentified as other less significant signs, such as scattered drusen, the use of proper clinical equipment can facilitate a more accurate diagnosis 9,10 . In this case, the patient was referred to the clinic to check for retinitis pigmentosa, for which a full-field electroretinogram and electro-oculogram were ordered at the first visit, as in regular cases.…”

Section: Discussionmentioning

confidence: 99%

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Utilizing Advanced Technology to Facilitate Diagnosis of Rare Retinal Disorders: A Case of Bietti Crystalline Dystrophy

2021

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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.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Utilizing Advanced Technology to Facilitate Diagnosis of Rare Retinal Disorders: A Case of Bietti Crystalline Dystrophy

2021

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“…Few studies investigated the OCTA findings in patients with BCD. 6,[16][17][18] Miyata et al identified a CC flow deficit in 92% of eyes using OCTA, demonstrating that the presence of residual subfoveal CC was significantly associated with visual function. 6 Demir and colleagues confirmed the flow deficit in CC, highlighting also a significant deficit in VD of DCP and SCP in atrophic retina in BCD.…”

Section: Discussionmentioning

confidence: 99%

Optical coherence tomography angiography in Bietti crystalline dystrophy

Montemagni

Arrigo

Parodi

et al. 2022

European Journal of Ophthalmology

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Purpose Bietti crystalline dystrophy (BCD) is a rare autosomal recessive retinal dystrophy caused by pathogenic variants of CYP4V2 gene and characterized by shiny yellow deposits in the retina and progressive atrophy of the retinal pigment epithelium (RPE) and choriocapillaris. The main aim of the present study is to describe the optical coherence tomography angiography (OCTA) characteristics of a patient affected by BCD. Methods A 59-years-old female with genetically confirmed BCD underwent an ophthalmological examination complete of OCTA performed in the atrophic retina, the junctional zone and the apparently normal retina. The area of choriocapillaris (CC) atrophy was compared to the area of RPE atrophy on fundus autofluorescence (FAF) imaging. Results A severe vessel density (VD) deficit at the level of superficial and deep capillary plexa as well as CC was registered in atrophic areas, which resulted deeper with respect to the junctional area, whereas the apparently preserved retina revealed VD values similar to that of control eyes. The area of RPE atrophy on FAF was larger (55.90 mm2 in right eye and 48.76 mm2 in left eye) than the area of CC atrophy on OCTA imaging (51.86 mm2 and 42.44 mm2 respectively in right and left eye). Conclusions Our findings suggest that VD impairment of retinal plexa and CC follows the degeneration of RPE as demonstrated by the greater size of the area of RPE atrophy compared to CC atrophy. Further investigations based on OCTA imaging are necessary to enhance our knowledge of this rare disease.

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“…It is characterized by numerous tiny sparkling yellow-white crystalline deposits in the posterior pole retina, retinal pigment epithelium (RPE) atrophy, and choroid sclerosis [ 2 ]. Current literature studies mainly focus on genetic diagnosis [ 3 ], cross-sectional imaging studies [ 4 , 5 ], and case reports [ 6 , 7 ]. Follow-up observation studies are rare, and most of them are case reports [ 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

Multimodal Imaging Observation in Different Progressive Types of Bietti Crystalline Dystrophy

Zhang

Wang

et al. 2022

Journal of Ophthalmology

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Objective. The aim of the study is to observe the difference in progression between type 1 and type 2 Bietti crystalline dystrophy (BCD) using multimodal imaging. Methods. A retrospective clinical study was performed with six BCD patients who underwent multimodal imaging twice in Hebei Provincial Eye Hospital from October 2015 to December 2020. Multimodal imaging includes color fundus photography, fundus autofluorescence (AF), infrared autofluorescence (IRAF), fundus fluorescein angiography (FFA), and spectral domain optical coherence tomography (SD-OCT). The fundus lesion progression difference was observed in 3 patients with type 1 BCD and 3 patients with type 2 BCD. Results. In type 1 BCD, the range of hypoautofluorescence (hypo-AF), hypoinfrared autofluorescence (hypo-IRAF), and hypofluorescence in the posterior pole was enlarged, and FFA showed that the lesions in the posterior pole and periphery extended to the middle periphery. SD-OCT revealed retinal and choroidal thinning, progressive loss of the outer nuclear layer and ellipsoid zone, and reduction of the choroid macrovascular diameter. In type 2 BCD, the range of hypo-AF was enlarged, but there was no significant change in the macula area. The uniform hypo-IRAF in the posterior pole showed no significant change. FFA showed no significant change with the progression of the disease in the macula area and the hypofluorescence around it expanded. SD-OCT revealed no obvious change in the macula area. Conclusions. The retinal choroid atrophy in the macula area of type 1 BCD continued to worsen, and the choroid great vessels became narrower. The macular lesions of type 2 BCD can remain unchanged for a long time.

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Optical coherence tomography and optical coherence tomography angiography imaging in Bietti crystalline dystrophy

Cited by 8 publications

References 14 publications

Utilizing Advanced Technology to Facilitate Diagnosis of Rare Retinal Disorders: A Case of Bietti Crystalline Dystrophy

Utilizing Advanced Technology to Facilitate Diagnosis of Rare Retinal Disorders: A Case of Bietti Crystalline Dystrophy

Optical coherence tomography angiography in Bietti crystalline dystrophy

Multimodal Imaging Observation in Different Progressive Types of Bietti Crystalline Dystrophy

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