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Title: Expanding the phenotypic and genotypic spectrum of Bietti crystalline dystrophy
Author: Matioli da Palma, Mariana
Motta, Fabiana Bouise
Salles, Mariana Vallim
Texeira, Caio Henrique Marques
Gomes, André V.
Casaroli Marano, Ricardo Pedro
Sallum, Juliana Maria Ferraz
Keywords: Cristal·lí
Malalties hereditàries
Crystalline lens
Genetic diseases
Issue Date: 10-May-2021
Publisher: MDPI
Abstract: Abstract: The rare form of retinal dystrophy, Bietti crystalline dystrophy, is associated with variations in CYP4V2, a member of the cytochrome P450 family. This study reports patients affected by typical and atypical Bietti crystalline dystrophy, expanding the spectrum of this disease. This is an observational case series of patients with a clinical and molecular diagnosis of Bietti crystalline dystrophy that underwent multimodal imaging. Four unrelated patients are described with two known variants, c.802‐8_810del17insGC and c.518T > G (p.Leu173Trp), and one novel missense variant, c.1169G > T (p.Arg390Leu). The patient with the novel homozygous variant had the most severe phenotype resulting in macular hole formation and retinal detachment in both eyes. To the best of our knowledge, there is no association of these features with Bietti crystalline dystrophy. Patient 1 was the youngest patient and had the mildest phenotype with crystals in the retina without chorioretinal atrophy and visual complaints. Patients 2 and 3 presented with fewer crystals and chorioretinal atrophy. These three patients presented a classic phenotype. The fourth patient presented with an atypical and severe phenotype. This study reveals a new genotype and new phenotype associated with this disorder. Keywords: bietti crystalline dystrophy; CYP4V2 protein; genetic testing; missense mutation; insertion‐deletion mutation
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It is part of: Genes, 2021, vol. 12, num. 5, p. 713
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ISSN: 2073-4425
Appears in Collections:Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques)

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