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Last update 08 May 2025

Doyne Honeycomb Retinal Dystrophy

Last update 08 May 2025

Basic Info

Synonyms

DHD, DHRD, DOYNE HONEYCOMB DEGENERATION OF RETINA

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Introduction

A rare, genetic macular dystrophy disorder characterized by the presence of small yellow-white accumulations of extracellular material under the retinal pigment epithelium in the ocular posterior pole, and affecting multiple members of a family. The disease has a variable clinical presentation ranging from asymptomatic patients to progressive loss of vision and scotomas, possibly associated with subfoveal choroidal neovascularization, extensive pigmentary changes, geographic atrophy and/or subretinal hemorrhage.

Clinical Trials associated with Doyne Honeycomb Retinal Dystrophy

NCT06318585

/ RecruitingNot ApplicableIIT

Creazione di un Database Clinico Per lo Studio Della variabilità Fenotipica Nella Malattia Del Motoneurone

Study Description: Characterization of Motor Neuron Disease Phenotypes
The goal of this observational study is to understand the clinical presentation of motor neuron disease (MND) in patients attending the Neurology Department of the Istituto Auxologico Italiano. The main questions it aims to answer are:
What are the specific clinical phenotypes associated with MND?
How can these phenotypes contribute to a better understanding of the disease's underlying mechanisms and improve prognostic accuracy?
Participants will undergo:
Clinical evaluation using validated scales
Neurophysiological and neuroradiological instrumental assessment
Neuropsychological evaluation
Collection of biological materials for genetic screening and biomarker assessment, if necessary.

Start Date03 Apr 2023

Sponsor / Collaborator

Istituto Auxologico Italiano

NCT06764550

/ Active, not recruitingNot ApplicableIIT

Molecular and Microbiota Signatures Underlying Colonic Diverticular Disease - Caratterizzazione Dei Meccanismi Molecolari e Del Microbiota Nella Malattia Diverticolare Del Colon

The pathogenesis of diverticular disease is likely multifactorial in origin. This project aims to study the involvement of environmental factors in the pathophysiology of diverticular disease, the underlying molecular mechanisms, and alterations in the microbiota.

Start Date05 Mar 2020

Sponsor / Collaborator

IRCCS Azienda Ospedaliero-Universitaria di Bologna

NCT04440644

/ CompletedNot Applicable

Validazione Italiana Dello Strumento BBI (Beaumont Behavioural Inventory) Per la Valutazione Delle Alterazioni Comportamentali Nel Paziente Affetto da Malattia Del Motoneurone

Up to 50% of patients affected with amyotrophic lateral sclerosis (ALS) can show behavioral dysfunctions within the spectrum of frontotemporal degenerations (FTD) - namely, apathy, disinhibition, loss of sympathy/empathy, perseverative and stereotyped behaviours, dietary changes [Strong et al., 2017].
The Beaumont Behavioural Inventory (BBI) [Elamin et al., 2017] is a questionnaire designed for detecting FTD-spectrum behavioural changes in ALS patients. The present study aims at both validating the BBI in an Italian ALS population and determining normative cut-off values of the instrument.

Start Date17 Sep 2019

Sponsor / Collaborator

Istituti Clinici Scientifici Maugeri SpA

100 Clinical Results associated with Doyne Honeycomb Retinal Dystrophy

100 Translational Medicine associated with Doyne Honeycomb Retinal Dystrophy

0 Patents (Medical) associated with Doyne Honeycomb Retinal Dystrophy

334

Literatures (Medical) associated with Doyne Honeycomb Retinal Dystrophy

01 Jun 2025·American Journal of Ophthalmology

Genetic Distinctions Between Reticular Pseudodrusen and Drusen: A Genome-Wide Association Study

Article

Author: Khalid, Hagar ; Egan, Catherine ; Phatak, Sumita ; Valmaggia, Philippe ; Khawaja, Anthony P ; de Vente, Coen ; Liakopoulos, Sandra ; Sánchez, Clara I ; Schwartz, Roy ; Olvera-Barrios, Abraham ; Tufail, Adnan ; Luben, Robert ; Bonelli, Roberto ; Warwick, Alasdair N ; Jhingan, Mahima

OBJECTIVETo identify genetic determinants specific to reticular pseudodrusen (RPD) compared with drusen.DESIGNGenome-wide association study (GWAS) SUBJECTS: Participants with RPD, drusen, and controls from the UK Biobank (UKBB), a large, multisite, community-based cohort.METHODSParticipants with RPD, drusen, and controls from the UK Biobank (UKBB), a large, multisite, community-based cohort, were included. A deep learning framework analyzed 169,370 optical coherence tomography (OCT) volumes to identify cases and controls within the UKBB. Five retina specialists validated the cohorts using OCT and color fundus photographs. Several GWAS were undertaken utilizing the quantity and presence of RPD and drusen. Genome-wide significance was defined as P < 5e-8.MAIN OUTCOMES MEASURESGenetic associations were examined with the number of RPD and drusen within 'pure' cases, where only RPD or drusen were present in either eye. A candidate approach assessed 46 previously known AMD loci. Secondary GWAS were conducted for number of RPD and drusen in mixed cases, and binary case-control analyses for pure RPD and pure drusen.RESULTSThe study included 1787 participants: 1037 controls, 361 pure drusen, 66 pure RPD, and 323 mixed cases. The primary pure RPD GWAS identified four genome-wide significant loci: rs11200630 near ARMS2-HTRA1 (P = 1.9e-09), rs79641866 at PARD3B (P = 1.3e-08), rs143184903 near ITPR1 (P = 8.1e-09), and rs76377757 near SLN (P = 4.3e-08). The latter three are uncommon variants (minor allele frequency <5%). A significant association at the CFH locus was also observed using a candidate approach (P = 1.8e-04). For pure drusen, two loci reached genome-wide significance: rs10801555 at CFH (P = 6.0e-33) and rs61871744 at ARMS2-HTRA1 (P = 4.2e-20).CONCLUSIONSThe study highlights a clear association between the ARMS2-HTRA1 locus and higher RPD load. Although the CFH locus association did not achieve genome-wide significance, a suggestive link was observed. Three novel associations unique to RPD were identified, albeit for uncommon genetic variants. Further studies with larger sample sizes are needed to explore these findings.

01 Apr 2025·Chemistry & Biodiversity

Chemical Warfare in the Environment—Secondary Metabolites From Starfish (Asterias amurensis) Induce Teratogenicity in Medaka Embryos (Oryzias melastigma)

Article

Author: Lu, Zhen ; Xu, Youhou ; Yin, Xiuli ; Wang, Song ; Li, Ke ; Wang, Derui ; Yan, Zhi ; Li, Xiaodong

ABSTRACTStarfish saponins, known for their role as feeding deterrents against predators like crabs and fish, have been extensively studied for their antifeedant and cytolytic effects. Recent research suggests that starfish secondary metabolites possess antifouling and antifeedant properties and play a role in biological interactions and various ecological functions. Previous research demonstrated that saponins from starfish exert their toxic effects on fish by interacting with cholesterol in the blood cell membrane. This study investigated the hypothesis that secondary metabolites, other than saponins, from the starfish Asterias amurensis may be harmful to fish eggs, particularly marine medaka (Oryzias melastigma) eggs, which share starfish habitat. We systematically separated the secondary metabolites of A. amurensis by a variety of chromatographic methods. Two oligoglycosides related to embryonic teratogenicity were identified, including one previously undescribed tetrasaccharide (1) and one known pyrrole oligoglycoside (2). Their structures were established mainly on the basis of detailed analysis of the nuclear magnetic resonance spectroscopy (NMR) and mass spectroscopic data. Compounds 1 and 2 exhibited strong lethality and significantly reduced voluntary movements in medaka embryos, with compound 2 showing more pronounced effects on teratogenicity and heart rates. The main morphological abnormalities observed included delayed head development (DHD), tiny spines (TS), incomplete absorption of oil balls (OB), cardiac abnormalities (CA), and shrunken yolk sacs (SYS). Our findings imply that starfish secondary metabolites may have broader ecological effects, influencing habitat‐sharing species in subtle but crucial ways.

01 Feb 2025·eBioMedicine

Artificial intelligence-enhanced comprehensive assessment of the aortic valve stenosis continuum in echocardiography

Article

Author: Hwang, In-Chang ; Cho, Goo-Yeong ; Park, Jiesuck ; Jang, Yeonggul ; Jeong, Hyunseok ; Chang, Hyuk-Jae ; Lee, Seung-Ah ; Hong, Youngtaek ; Jeon, Jaeik ; Choi, Hong-Mi ; Yoon, Yeonyee E ; Kim, Jiyeon

BACKGROUNDTransthoracic echocardiography (TTE) is the primary modality for diagnosing aortic stenosis (AS), yet it requires skilled operators and can be resource-intensive. We developed and validated an artificial intelligence (AI)-based system for evaluating AS that is effective in both resource-limited and advanced settings.METHODSWe created a dual-pathway AI system for AS evaluation using a nationwide echocardiographic dataset (developmental dataset, n = 8427): 1) a deep learning (DL)-based AS continuum assessment algorithm using limited 2D TTE videos, and 2) automating conventional AS evaluation. We performed internal (internal test dataset [ITDS], n = 841) and external validation (distinct hospital dataset [DHDS], n = 1696; temporally distinct dataset [TDDS], n = 772) for diagnostic value across various stages of AS and prognostic value for composite endpoints (cardiovascular death, heart failure, and aortic valve replacement).FINDINGSThe DL index for the AS continuum (DLi-ASc, range 0-100) increased with worsening AS severity and demonstrated excellent discrimination for any AS (AUC 0.91-0.99), significant AS (0.95-0.98), and severe AS (0.97-0.99). DLi-ASc was independent predictor for composite endpoint (adjusted hazard ratios 2.19, 1.64, and 1.61 per 10-point increase in ITDS, DHDS, and TDDS, respectively). Automatic measurement of conventional AS parameters demonstrated excellent correlation with manual measurement, resulting in high accuracy for AS staging (98.2% for ITDS, 82.1% for DHDS, and 96.8% for TDDS) and comparable prognostic value to manually-derived parameters.INTERPRETATIONThe AI-based system provides accurate and prognostically valuable AS assessment, suitable for various clinical settings. Further validation studies are planned to confirm its effectiveness across diverse environments.FUNDINGThis work was supported by a grant from the Institute of Information & Communications Technology Planning & Evaluation (IITP) funded by the Korea government (Ministry of Science and ICT; MSIT, Republic of Korea) (No. 2022000972, Development of a Flexible Mobile Healthcare Software Platform Using 5G MEC); and the Medical AI Clinic Program through the National IT Industry Promotion Agency (NIPA) funded by the MSIT, Republic of Korea (Grant No.: H0904-24-1002).

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Doyne Honeycomb Retinal Dystrophy

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