An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of <i>CYP4V2</i> as the Cause of Bietti Crystalline Dystrophy

Hanany, Mor; Yang, Richard Rui; Lam, Chun Man; Beryozkin, Avigail; Sundaresan, Yogapriya; Sharon, Dror

doi:10.1167/tvst.12.2.27

Cited by 3 publications

(1 citation statement)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“… 13 However, prevalence of BCD is estimated to be around 1:116,000 according to a recent study. 15 In a group of 207 consecutive retinitis pigmentosa (RP) patients, 4 BCD cases were identified, and BCD prevalence was estimated to be 2.5% of all RP patients. 16 Matafsi et al 16 revealed that BCD was diagnosed in 3% of non-syndromic RP cases and the equivalent frequency increased to 10% when autosomal recessive RP was considered.…”

Section: Epidemiologymentioning

confidence: 99%

Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives

Saatçi¹,

Atas²,

Çetin³

et al. 2023

OPTH

View full text Add to dashboard Cite

Bietti crystalline dystrophy (BCD) is a rare, genetically determined chorioretinal dystrophy presenting with intraretinal crystalline deposits and varying degrees of progressive chorioretinal atrophy commencing at the posterior pole. In some cases, there can be concomitant corneal crystals noted first in the superior or inferior limbus. CYP4V2 gene, a member of the cytochrome P450 family is responsible for the disease and more than 100 mutations have been defined thus far. However, a genotype–phenotype correlation has not been established yet. Visual impairment commonly occurs between the second and third decades of life. By the fifth or sixth decade of life, vision loss can become so severe that the patient may potentially become legally blind. Multitudes of multimodal imaging modalities can be utilized to demonstrate the clinical features, course, and complications of the disease. This present review aims to reiterate the clinical features of BCD, update the clinical perspectives with the help of multimodal imaging techniques, and overview its genetic background with future therapeutic approaches.

show abstract

Section: Epidemiologymentioning

confidence: 99%

Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives

Saatçi¹,

Atas²,

Çetin³

et al. 2023

OPTH

View full text Add to dashboard Cite

show abstract

Evaluating precision medicine approaches for gene therapy in patient-specific cellular models of Bietti crystalline dystrophy

Li,

Yang,

et al. 2024

JCI Insight

View full text Add to dashboard Cite

Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations

Yang,

Ma,

Wang

et al. 2024

Asian Journal of Andrology

View full text Add to dashboard Cite

Fibroblast growth factor receptor 1 (FGFR1) mutations are associated with congenital hypogonadotropic hypogonadism (CHH) through inheritance or spontaneous occurrence. We detected FGFR1 mutations in a Chinese cohort of 210 CHH patients at Peking Union Medical College Hospital (Beijing, China) using next-generation and Sanger sequencing. We assessed missense variant pathogenicity using six bioinformatics tools and compared clinical features and treatment outcomes between inherited and de novo mutation groups. Among 19 patients with FGFR1 mutations, three were recurrent, and 16 were novel variants. Sixteen of the novel mutations were likely pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines, with the prevalent P366L variant. The majority of FGFR1 mutations was inherited (57.9%), with frameshift mutations exclusive to the de novo mutation group. The inherited mutation group had a lower incidence of cryptorchidism, short stature, and skeletal deformities. In the inherited mutation group, luteinizing hormone (LH) levels were 0.5 IU l−1, follicle-stimulating hormone (FSH) levels were 1.0 IU l−1, and testosterone levels were 1.3 nmol l−1. In contrast, the de novo group had LH levels of 0.2 IU l−1, FSH levels of 0.5 IU l−1, and testosterone levels of 0.9 nmol l−1, indicating milder hypothalamus–pituitary–gonadal axis (HPGA) functional deficiency in the inherited group. The inherited mutation group showed a tendency toward higher spermatogenesis rates. In conclusion, this study underscores the predominance of inherited FGFR1 mutations and their association with milder HPGA dysfunction compared to de novo mutations, contributing to our understanding of the genetic and clinical aspects of FGFR1 mutations.

show abstract

An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy

Cited by 3 publications

References 35 publications

Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives

Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives

Evaluating precision medicine approaches for gene therapy in patient-specific cellular models of Bietti crystalline dystrophy

Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations

Contact Info

Product

Resources

About