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Introduction to Human Cytochrome P450 Superfamily
Published in Shufeng Zhou, Cytochrome P450 2D6, 2018
Given the important role of CYPs in the metabolism of a series of endogenous compounds, CYP-mediated diseases comprise those caused by aberrant steroidogenesis, defects in fatty acid, cholesterol and bile acid pathways, vitamin D dysregulation, and retinoid (as well as putative eicosanoid) dysregulation during fertilization, implantation, embryogenesis, fetogenesis, and neonatal development (Nebert et al. 2013; Rowland and Mangoni 2014). These diseases include the following: 21-Hydroxylase deficiencyAlzheimer’s diseaseAromatase deficiencyAromatase excess syndromeAutoimmune Addison diseaseBietti’s crystalline dystrophyCerebrotendinous xanthomatosisCongenital adrenal hyperplasia attributed to 11β-hydroxylase deficiencyCorticosterone methyloxidase deficiencyEarly-onset glaucomaEssential hypertensionFamilial hyperaldosteronismGhosal hematodiaphyseal dysplasiaHereditary spastic paraplegia type 5Multiple sclerosisPeters anomalyVitamin D–dependent rickets
Bietti’s crystalline dystrophy in Nepalese patients: when genetic analysis supports clinical diagnosis
Published in Ophthalmic Genetics, 2019
Barsha Suwal, Sanyam Bajimaya, Paul S. Bernstein
Bietti’s crystalline dystrophy (BCD), a rare retinal dystrophy first described by Bietti, has a reported worldwide prevalence of 1:67,000 (1). We, herein, describe two patients of the same family from Nepal, with features of BCD without corneal involvement. To the best of our knowledge, there has been no previous confirmed report of BCD in Nepal and its genotype has not been reported in the Nepalese population until now.
Optical coherence tomography and optical coherence tomography angiography imaging in Bietti crystalline dystrophy
Published in Ophthalmic Genetics, 2020
Semra Tiryaki Demir, Sümeyra Keles Yesiltas, Hakan Kacar, Emine Betül Akbas, Dilek Guven
Bietti crystalline dystrophy (BCD) is a rare autosomal recessive disease characterized by shiny yellow crystalline deposits in the retina with progressive atrophy of the retinal pigment epithelium (RPE) and choriocapillaris. Patients present with complaints of decreased visual acuity, night blindness, and narrowing of the visual field (1).
Presence of corneal crystals confirms an unusual presentation of Bietti’s retinal dystrophy
Published in Ophthalmic Genetics, 2019
Won Kyung Song, Penny Clouston, Robert E. MacLaren
Here we report an unusual presentation of a family with Bietti’s crystalline dystrophy due to apparent dominant inheritance and unusual retinal phenotype. The presence of crystalline deposits in the cornea, however, suggested the diagnosis which was confirmed by genetic testing.