Outer Retinal Tubulation in Bietti Crystalline Dystrophy Associated With the Retinal Pigment Epithelium Atrophy

Wang, Yusong; Chen, Jieqiong; Sun, Junran; Li, Tong; Yu, Shuxun; Yang, Gong; Yu, Yang; Wan, Xiaoling; Jia, Huixun; Wu, Jihong; Yuan, Fei; Shen, Xipeng; Wang, Zhiliang; Qiao, Tong; Wu, Qiang; Xu, Yu; Wang, Zhaoyang; Yang, Chenhao; Qu, Junle; Chen, Jianjun; Sun, Xiaodong

doi:10.1097/iae.0000000000003697

Cited by 3 publications

(3 citation statements)

References 36 publications

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“…Interestingly, a previously reported PCARE-related IRD case series described three patients with ORTs who appeared to have better visual acuity than the rest of the cohort [ 11 ]. Although the clinical significance of ORTs is controversial, some authors have recognized their potential use as clinical biomarkers of prognosis [ 24 , 25 ].…”

Section: Discussionmentioning

confidence: 99%

Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort

López-Rodríguez,

Arce-González,

Martínez-Aguilar

et al. 2024

Journal of Ophthalmology

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Purpose. The aim of the study is to describe the genotype and phenotype of a Mexican cohort with PCARE-related retinal disease. Methods. The study included 14 patients from 11 unrelated pedigrees with retinal dystrophies who were demonstrated to carry biallelic pathogenic variants in PCARE. Visual assessment methods included best corrected visual acuity, color fundus photography, Goldmann visual field test, kinetic perimetry, dark/light adapted chromatic perimetry, full-field electroretinography, autofluorescence imaging, and spectral domain-optical coherence tomography imaging. Genetic screening was performed either by gene panel sequencing or by exome sequencing. Results. According to the results of multimodal imaging and functional tests, all 14 patients were diagnosed with cone-rod dystrophy. Six different PCARE pathogenic alleles were identified in our cohort, including three novel mutations: c.3048_3049del (p.Tyr1016∗), c.3314_3315del (p.Ser1105∗), and c.551A > G (p.His184Arg). Notably, alleles p.His184Arg, p.Arg613∗, and p.Arg984∗ were present in 18 of the 22 (82%) PCARE alleles from probands in our cohort. Conclusion. Our work expands the PCARE mutational profile by identifying three novel pathogenic variants causing retinal dystrophy. While phenotypic variations occurred among patients, a cone-rod dystrophy pattern was observed in all affected individuals.

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Section: Discussionmentioning

confidence: 99%

Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort

López-Rodríguez,

Arce-González,

Martínez-Aguilar

et al. 2024

Journal of Ophthalmology

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“… 55 Very recently, 42 clinically and genetically diagnosed BCD patients were evaluated in a multicenter, retrospective cohort study for the presence of ORTs and its possible prognostic implications. 59 Eighty eyes with good quality of SD OCT sections were included. In 52 eyes, there were evidence of ORT, and the incidence of ORT was significantly higher in stage 2 disease than the other disease stages.…”

Section: Clinical Characteristics On Various Ancillary Testsmentioning

confidence: 99%

“…The authors considered that ORT might be the sign of the onset of RPE atrophy in early stage BCD and might suggest less risk of rapid progression in late-stage BCD. 59 …”

Section: Clinical Characteristics On Various Ancillary Testsmentioning

confidence: 99%

Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives

Saatçi¹,

Atas²,

Çetin³

et al. 2023

OPTH

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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.

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Cross-Sectional Analysis of Outer Retinal Tubulation in Inherited Retinal Diseases: A Multicenter Study

Liu,

Lee,

et al. 2025

American Journal of Ophthalmology

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Outer Retinal Tubulation in Bietti Crystalline Dystrophy Associated With the Retinal Pigment Epithelium Atrophy

Cited by 3 publications

References 36 publications

Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort

Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort

Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives

Cross-Sectional Analysis of Outer Retinal Tubulation in Inherited Retinal Diseases: A Multicenter Study

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