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Last update 08 May 2025

Fundus Albipunctatus

Last update 08 May 2025

Basic Info

Synonyms

FUNDUS ALBIPUNCTATUS, Fundus Albipunctatus, Fundus albipunctatus

+ [3]

Introduction

A rare genetic retinal dystrophy with characteristics of the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.

Clinical Trials associated with Fundus Albipunctatus

JPRN-UMIN000018565

/ RecruitingNot ApplicableIIT

Genetic testing for Japanese retinitis pigmentosa and related diseases - Genetic testing for Japanese retinitis pigmentosa and related diseases

Start Date01 Sep 2015

Sponsor / Collaborator-

JPRN-UMIN000017676

/ CompletedPhase 1/2IIT

Effect of 9-cis beta-carotene on retinal function of fundus albipunctatus - Effect of 9-cis beta-carotene on fundus albipunctatus

Start Date07 May 2015

Sponsor / Collaborator

Mie University Hospital

[+1]

NCT02435940

/ RecruitingNot ApplicableIIT

Foundation Fighting Blindness My Retina Tracker Registry

The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on their retinal disease and its progress; family history; genetic testing results; preventive measures; general health and interest in participation in research studies. The participants may also choose to ask their clinician to add clinical measurements and results at each clinical visit. Participants are urged to update the information regularly to create longitudinal records of their disease, from their own perspective, and their clinical progress. The overall goals of the Registry are: to better understand the diversity within the inherited retinal degenerative diseases; to understand the prevalence of the different diseases and gene variants; to assist in the establishment of genotype-phenotype relationships; to help understand the natural history of the diseases; to help accelerate research and development of clinical trials for treatments; and to provide a tool to investigators that can assist with recruitment for research studies and clinical trials.

Start Date01 Jun 2014

Sponsor / Collaborator

The Foundation Fighting Blindness, Inc.

100 Clinical Results associated with Fundus Albipunctatus

100 Translational Medicine associated with Fundus Albipunctatus

0 Patents (Medical) associated with Fundus Albipunctatus

Literatures (Medical) associated with Fundus Albipunctatus

01 Feb 2025·Journal of Biological Chemistry

HSP90 stabilizes visual cycle retinol dehydrogenase 5 in the endoplasmic reticulum by inhibiting its degradation during autophagy

Article

Author: Xue, Mengjiao ; Peng, Xuyan ; Hu, Yanzhong ; Jiang, Mingjun ; Chen, Dan-Dan ; Zhang, Fengyan ; Lang, Youfei ; Wang, Yuxuan ; Jia, Xiaolin ; Dong, Yichen ; Zhou, Guiling ; Shang, Guohui ; Liu, Baixue

Genetic mutations in retinol dehydrogenase 5 (RDH5), a rate-limiting enzyme of the visual cycle, is associated with nyctalopia, age-related macular disease, and stationary congenital fundus albipunctatus (FA). A majority of these mutations impair RDH5 protein expression and intracellular localization. However, the regulatory mechanisms underlying RDH5 metabolism remain unclear. Here, we find that RDH5 undergoes degradation via the autophagy-lysosomal pathway, and its stability is regulated by interacting with HSP90. Deletion of HSP90α or HSP90β by CRISPR-Cas9 or inhibition of HSP90 activity by IPI-504 downregulates RDH5 protein level, but not its mRNA expression, and this downregulation is restored by autophagic inhibitors (3-MA, CQ, and Baf-A1) and siRNA of ATG5 or ATG7, but not by the proteasome inhibitor MG132. RDH5 can physically interact with SQSTM1/P62, and this interaction is enhanced in HSP90-deficient cells as well as in CQ-treated cells. Knocking down SQSTM1/P62 by siRNA induces RDH5 protein accumulation. Moreover, HSP90, RDH5, and Calnexin form a complex through intermolecular interactions. Deficiency of HSP90α or HSP90β dissociates RDH5 from Calnexin and increases RDH5 translocation from the endoplasmic reticulum to the cytosol. Taken together, we propose that dysfunction of HSP90 leads to RDH5 release from Calnexin in the endoplasmic reticulum into the cytosol, where it binds to the adaptor SQSTM1/P62 for degradation in the autolysosome. RDH5 is a novel client candidate of HSP90. The downregulation of RDH5 may be responsible for the nyctalopia side effect noted in cancer patients receiving HSP90 inhibitor treatment currently in the clinical trial.

01 Nov 2023·Heliyon

Roles and mechanisms of long non-coding RNAs in age-related macular degeneration

Review

Author: Gui, Chenwei ; Zhang, Rong ; Wang, Lin ; Pei, Yajing ; Zhou, Guohong ; Li, Yang

Worldwide, age-related macular degeneration (AMD) is a multifactorial progressive fundus disorder that can cause vision impairment and severe central blindness in older adults. Currently, there are no approved prevention or treatment strategies for non-exudative AMD. While targeting VEGF is the main therapeutic approach to delay the degeneration process in exudative AMD, a significant number of patients show insensitivity or ineffectiveness to anti-VEGF therapy. Despite years of research, the exact mechanism underlying drusen formation and macular atrophy in AMD remains unknown. In the pathogenesis of AMD, lncRNAs play crucial roles, as discussed in this paper. This review focuses on the function of dysregulated lncRNAs and the mechanisms by which specific molecules target these lncRNAs in AMD. The analysis reveals that lncRNAs primarily regulate the progression of AMD by mediating apoptosis, epithelial-mesenchymal transition (EMT), dedifferentiation, and oxidative stress in choroidal vascular endothelial cells, retinal pigment epithelium (RPE) cells, and photoreceptors. Consequently, the regulation of apoptosis, dedifferentiation, EMT, and other processes by lncRNAs has emerged as a crucial focus in AMD research.These findings contribute to our understanding of the role of lncRNAs in AMD and their potential as valuable biomarkers. Furthermore, they highlight the need for further basic and clinical studies to explore the value of lncRNAs as biomarkers and potential therapeutic targets for AMD.

01 Oct 2023·American Journal of Ophthalmology

One-Year Outcomes of Oral Treatment With Alga Capsules Containing Low Levels of 9-cis-β-Carotene in RDH5-Related Fundus Albipunctatus

Article

Author: Nakano, Tadashi ; Aoki, Takuya ; Mizobuchi, Kei ; Hayashi, Takaaki ; Kondo, Mineo ; Ueno, Shinji ; Terasaki, Hiroko

PURPOSEThis study aimed to clarify the effect of 1-year oral treatment with 9-cis-β-carotene-rich alga Dunaliella bardawil (Dunaliella supplementation) using full-field electroretinography (ERG) in patients with RDH5-related fundus albipunctatus (FAP).DESIGNProspective, interventional case series.PARTICIPANTSThe study included 12 patients (23 eyes) with RDH5-related FAP.METHODSTwelve patients (23 eyes) with RDH5-related FAP received Dunaliella supplementation (total daily dose of β-carotene was 74.0 mg, comprising 28.4 mg 9-cis-β-carotene and 45.6 mg all-trans-β-carotene at a ratio of 1:1.6) for 1 year and underwent ophthalmic examinations, including full-field ERG at baseline, 3 months, and 1 year after the initial treatment.MAIN OUTCOME MEASURESThe main outcome was changes in the amplitudes of responses of full-field ERG before and after treatment. A linear mixed-effects model was used to evaluate the adjusted mean difference between the amplitude of each response pretreatment and posttreatment.RESULTSProlonged dark adaptation (DA) responses at 3 months revealed a significant impairment in the b-wave of DA 0.01 (adjusted mean difference, -34.7, 95% CI, -66.8 to -2.73, P = .041) and a-wave of DA 3.0 (-29.0, 95% CI, -50.6 to -7.41, P = .013) and DA 10.0 (-40.4, 95% CI, -67.8 to -13.0, P = .007), which were also observed at 1 year. Additionally, prolonged DA and light adaptation (LA) responses revealed statistically significant impairment at 1 year in the b-wave of DA 3.0 (-43.8, 95% CI, -82.9 to -4.78, P = .035), DA 10.0 (-59.7, 95% CI, -101.8 to -17.61, P = .009), LA 3.0 (-7.31, 95% CI, -13.6 to -1.04, P = .029), and LA 3.0 flicker (-7.53, 95% CI, -12.7 to -2.34, P = .007).CONCLUSIONSOur study results suggest that Dunaliella supplementation comprising low levels of 9-cis-β-carotene compared with those reported in a previous study (1:1 ratio) adversely affects ERG amplitudes in patients with RDH5-related FAP.

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