Genes, Vol. 12, Pages 713: Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy

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.

Source: Genes - May 10, 2021 Category: Genetics & Stem Cells Authors: Mariana Matioli da Palma Fabiana Louise Motta Mariana Vallim Salles Caio Henrique Marques Texeira Andr é V. Gomes Ricardo Casaroli-Marano Juliana Maria Ferraz Sallum Tags: Case Report Source Type: research