Chorioretinal Atrophy, Progressive Bifocal

Last update 01 Nov 2024

Basic Info

Synonyms

CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL, CRAPB, CRAPB Chorioretinal atrophy progressive bifocal

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Introduction

An early-onset chorioretinal dystrophy with characteristics of large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision and slow disease progression. It has been described in two large families. Transmission is autosomal dominant and the causative gene has been mapped to a region on chromosome 6q, close to the macular dystrophy retinal 1 (MCDR1) locus.

100 Clinical Results associated with Chorioretinal Atrophy, Progressive Bifocal

100 Translational Medicine associated with Chorioretinal Atrophy, Progressive Bifocal

0 Patents (Medical) associated with Chorioretinal Atrophy, Progressive Bifocal

Literatures (Medical) associated with Chorioretinal Atrophy, Progressive Bifocal

30 Apr 2024·Journal of Alzheimer's Disease

Association of Basal Forebrain Volume with Amyloid, Tau, and Cognition in Alzheimer’s Disease

Article

Author: Yoo, Han Soo ; Grothe, Michel J ; Teipel, Stefan ; Cavedo, Enrica ; Lee, Jae-Hoon ; Chun, Joong-Hyun ; Lee, Hye Sun ; Hampel, Harald ; Lyoo, Chul Hyoung ; Ryu, Young Hoon ; Kim, Han-Kyeol ; Vergallo, Andrea ; Cho, Hanna

Background: Degeneration of cholinergic basal forebrain (BF) neurons characterizes Alzheimer’s disease (AD). However, what role the BF plays in the dynamics of AD pathophysiology has not been investigated precisely. Objective: To investigate the baseline and longitudinal roles of BF along with core neuropathologies in AD. Methods: In this retrospective cohort study, we enrolled 113 subjects (38 amyloid [Aβ]-negative cognitively unimpaired, 6 Aβ-positive cognitively unimpaired, 39 with prodromal AD, and 30 with AD dementia) who performed brain MRI for BF volume and cortical thickness, 18F-florbetaben PET for Aβ, 18F-flortaucipir PET for tau, and detailed cognitive testing longitudinally. We investigated the baseline and longitudinal association of BF volume with Aβ and tau standardized uptake value ratio and cognition. Results: Cross-sectionally, lower BF volume was not independently associated with higher cortical Aβ, but it was associated with tau burden. Tau burden in the orbitofrontal, insular, lateral temporal, inferior temporo-occipital, and anterior cingulate cortices were associated with progressive BF atrophy. Lower BF volume was associated with faster Aβ accumulation, mainly in the prefrontal, anterior temporal, cingulate, and medial occipital cortices. BF volume was associated with progressive decline in language and memory functions regardless of baseline Aβ and tau burden. Conclusions: Tau deposition affected progressive BF atrophy, which in turn accelerated amyloid deposition, leading to a vicious cycle. Also, lower baseline BF volume independently predicted deterioration in cognitive function.

01 Jan 2024·Molecular vision

Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea.

Article

Author: Cherry, Timothy J ; Seo, Yuri ; Small, Kent W ; Lee, Junwon ; Bujakowska, Kinga M ; Jang, Sohyun ; Joo, Kwangsic ; Han, Jinu ; Woo, Se Joon ; Diaz, Amber

PurposePathogenic variants in North Carolina macular dystrophy (NCMD) have rarely been reported in the East Asian population. Herein, we reported novel variants of NCMD in 2 Korean families.MethodsThe regions associated with NCMD were analyzed with genome sequencing, and variants were filtered based on the minor allele frequency (0.5%) and heterozygosity. Non-coding variants were functionally annotated using multiple computational tools.ResultsWe identified two rare novel variants, chr6:g.99,598,914T>C (hg38; V17) and chr6:g.99,598,926G>A (hg38; V18) upstream of PRDM13 in families A and B, respectively. In Family 1, Grade 2 NCMD and a best-corrected visual acuity of 20/25 and 20/200 in the right and left eyes, respectively, were observed. In Family B, all affected individuals had Grade 1 NCMD with characteristic confluent drusen at the fovea and a best-corrected visual acuity of 20/20 in both eyes. These two variants are 10-22 bp downstream of the reported V10 variant within the DNase1 hypersensitivity site. This site is associated with progressive bifocal chorioretinal atrophy and congenital posterior polar chorioretinal hypertrophy and lies in the putative enhancer site of PRDM13.ConclusionWe identified two novel NCMD variants in the Korean population and further validated the regulatory role of the DNase1 hypersensitivity site upstream of PRDM13.

01 Dec 2022·Retina

Expansion of the Clinical Spectrum, Mutation, and Its Association With PRDM13

Article

Author: Tawfik, Caroline A ; Shaya, Fadi S ; Avetisjan, Jessica ; Udar, Uma ; Small, Kent W ; El-Aidy, Lamia A ; Udar, Nitin

Purpose:To describe a new ocular phenotype in a single Egyptian family associated with a heterozygous noncoding mutation in the North Carolina macular dystrophy (NCMD/MCDR1) locus, likely affecting the PRDM13 gene.Methods:A retrospective, clinical chart review of 11 members of a four-generation family. Comprehensive ophthalmic examinations included visual acuity, refraction, fundus imaging, spectral-domain optical coherence tomography, and full-field electroretinography. Molecular genetic analysis of the MCDR1 region was performed using whole genome and targeted sequencing. The main outcome measures were DNA sequence variants, clinical, retinal imaging, and electroretinography findings.Results:The five affected adult family members tested carried a single heterozygous mutation in a noncoding region (Chr6:100,046,783A>C) located 7.8 kb upstream of PRDM13. Visual acuity ranged from 20/200 to 20/400. All members had extensive chorioretinal absence/thinning extending outside of the maculae with extensive posterior bowing of the choroid and sclera centered in the macula giving a large macular coloboma-like appearance. Two additional members had cystoid fluid, and one had macular detachment. Full-field electroretinography revealed reduced cone and rod responses in all affected members.Conclusion:The phenotype of this disease falls between the spectrum of progressive bifocal chorioretinal atrophy and NCMD. The findings are most consistent with progressive bifocal chorioretinal atrophy with the exception that there is no bifocal nature to the appearance nor is it progressive. Another view is that the phenotype seems to be an extremely severe form of NCMD. Given that this disease falls in between progressive bifocal chorioretinal atrophy and NCMD, we propose calling it congenital posterior polar chorioretinal hypoplasia.

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Chorioretinal Atrophy, Progressive Bifocal

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