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Journal of Medical Case Reports

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Open Access 01-12-2022 | Case report

Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report

Authors: Fatemeh Bazvand, Esmaeil Asadi Khameneh

Published in: Journal of Medical Case Reports | Issue 1/2022

Abstract

Background

Bietti crystalline dystrophy is primarily a retinal dystrophy caused by a CYP4V2 mutation and typically presents with crystalline retinal deposits in the posterior fundus.

Case presentation

We present the case of an otherwise healthy 39-year-old Iranian woman with no family history of ocular disease who suffered with progressive vision loss that had started 2 years prior to presentation. Ocular examination revealed blurry optic nerve head margin and diffuse retinal crystalline deposit in both eyes. Spectral domain optical coherence tomography images showed retinal crystals, located mostly in outer retinal layers, with some areas of outer retinal tubulation and attenuation of outer retinal layers. Crystalline deposits were better visualized on near-infrared images as hyperreflective spots. Fundus autofluorescence images showed hyperautofluorescence areas on optic nerve head consistent with optic nerve head drusen and large hypoautofluorescence areas in posterior retina consistent with retinal pigment epithelium atrophy. Cystinosis was ruled out by blood testing.

Conclusion

Bietti crystalline dystrophy may be associated with optic nerve head drusen.

da Palma MM, Motta FL, Salles MV, Texeira CHM, Gomes AV, Casaroli-Marano R, et al. Expanding the phenotypic and genotypic spectrum of Bietti crystalline dystrophy. Genes (Basel). 2021;12(5):713.CrossRef

Kovach JL, Isildak H, Sarraf D. Crystalline retinopathy: unifying pathogenic pathways of disease. Surv Ophthalmol. 2019;64(1):1–29.CrossRefPubMed

Oishi A, Oishi M, Miyata M, Hirashima T, Hasegawa T, Numa S, et al. Multimodal imaging for differential diagnosis of Bietti crystalline dystrophy. Ophthalmol Retina. 2018;2(10):1071–7.CrossRefPubMed

Wang W, Chen W, Bai X, Chen L. Multimodal imaging features and genetic findings in Bietti crystalline dystrophy. BMC Ophthalmol. 2020;20(1):331.CrossRefPubMedPubMedCentral

Nakamura M, Lin J, Nishiguchi K, Kondo M, Sugita J, Miyake Y. Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations. Adv Exp Med Biol. 2006;572:49–53.CrossRefPubMed

Rossi S, Testa F, Li A, Yaylacioglu F, Gesualdo C, Hejtmancik JF, et al. Clinical and genetic features in Italian Bietti crystalline dystrophy patients. Br J Ophthalmol. 2013;97(2):174–9.CrossRefPubMed

Ilhan A, Yolcu U. Re: Halford et al.: Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy (Ophthalmology 2014;121:1174–84). Ophthalmology. 2015;122(4):e22.CrossRefPubMed

Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, Gahl WA, Markello TC, et al. The metabolism of fatty acids in human Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci. 2001;42(8):1707–14.PubMed

Mansour AM, Uwaydat SH, Chan CC. Long-term follow-up in Bietti crystalline dystrophy. Eur J Ophthalmol. 2007;17(4):680–2.CrossRefPubMedPubMedCentral

10.

Garcia-Garcia GP, Martinez-Rubio M, Moya-Moya MA, Perez-Santonja JJ, Escribano J. Current perspectives in Bietti crystalline dystrophy. Clin Ophthalmol. 2019;13:1379–99.CrossRefPubMedPubMedCentral

11.

Huang CY, Kang EY, Yeh LK, Wu AL, Liu PK, Huang IW, et al. Predicting visual acuity in Bietti crystalline dystrophy: evaluation of image parameters. BMC Ophthalmol. 2021;21(1):68.CrossRefPubMedPubMedCentral

12.

Zhang S, Wang L, Liu Z, Sun H, Li Q, Xing C, et al. Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography. BMC Ophthalmol. 2021;21(1):239.CrossRefPubMedPubMedCentral

13.

Palmer E, Gale J, Crowston JG, Wells AP. Optic nerve head drusen: an update. Neuroophthalmology. 2018;42(6):367–84.CrossRefPubMedPubMedCentral

Title: Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report
Authors: Fatemeh Bazvand
Esmaeil Asadi Khameneh
Publication date: 01-12-2022
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2022
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-022-03581-7

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report

Abstract

Background

Case presentation

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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