Mini Review
Published on 05 Jun 2023
Gene therapies in pediatric ophthalmology
in Pediatric Ophthalmology and Strabismus
Frontiers in Ophthalmology
doi 10.3389/fopht.2023.1188522
- 4,040 views
- 2 citations
28 articles related to "Retinal Dystrophy"
Articles
Original Research
Published on 21 Feb 2024
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1352063
- 3,628 views
- 3 citations
Original Research
Published on 06 Feb 2026
CDHR1 variants in a Japanese family with inherited retinal dystrophy and intrafamilial phenotypic variability
in Retina
Frontiers in Ophthalmology
doi 10.3389/fopht.2026.1736277
- 386 views
Brief Research Report
Published on 14 Jun 2023
Syntaxin 3 is haplosufficient for long-term photoreceptor survival in the mouse retina
in Retina
Frontiers in Ophthalmology
doi 10.3389/fopht.2023.1208805
- 1,875 views
- 2 citations
Review
Published on 28 Feb 2022
Genetics of Inherited Retinal Diseases in Understudied Populations
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2022.858556
- 7,999 views
- 13 citations
Case Report
Published on 15 Jun 2021
Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient
in Pediatric Endocrinology
Frontiers in Endocrinology
doi 10.3389/fendo.2021.581134
- 4,757 views
- 9 citations
Original Research
Published on 11 Jun 2021
Genotype Profile of Global EYS-Associated Inherited Retinal Dystrophy and Clinical Findings in a Large Chinese Cohort
in Molecular and Cellular Pathology
Frontiers in Cell and Developmental Biology
doi 10.3389/fcell.2021.634220
- 6,201 views
- 6 citations
Original Research
Published on 06 Oct 2022
Analysis of RPGR gene mutations in 41 Chinese families affected by X-linked inherited retinal dystrophy
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2022.999695
- 3,713 views
- 7 citations
Original Research
Published on 21 Mar 2022
Chronic Proinflammatory Signaling Accelerates the Rate of Degeneration in a Spontaneous Polygenic Model of Inherited Retinal Dystrophy
in Inflammation Pharmacology
Frontiers in Pharmacology
doi 10.3389/fphar.2022.839424
- 4,460 views
- 9 citations
Original Research
Published on 17 May 2019
A Nutraceutical Strategy to Slowing Down the Progression of Cone Death in an Animal Model of Retinitis Pigmentosa
in Neurodegeneration
Frontiers in Neuroscience
doi 10.3389/fnins.2019.00461
- 6,703 views
- 38 citations
Case Report
Published on 18 Sep 2024
A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan
in Ophthalmology
Frontiers in Medicine
doi 10.3389/fmed.2024.1442107
- 2,920 views
- 4 citations
Case Report
Published on 08 Aug 2025
Micropulse transscleral cyclophotocoagulation in the treatment of autosomal recessive bestrophinopathy combined with angle closure glaucoma: a case report
in Ophthalmology
Frontiers in Medicine
doi 10.3389/fmed.2025.1567964
- 1,449 views
Original Research
Published on 02 May 2022
Inverse Problem Reveals Conditions for Characteristic Retinal Degeneration Patterns in Retinitis Pigmentosa Under the Trophic Factor Hypothesis
in Neurocognitive Aging and Behavior
Frontiers in Aging Neuroscience
doi 10.3389/fnagi.2022.765966
- 2,471 views
- 2 citations
Original Research
Published on 04 Mar 2020
Retinal Degeneration in MPS-IIIA Mouse Model
in Molecular and Cellular Pathology
Frontiers in Cell and Developmental Biology
doi 10.3389/fcell.2020.00132
- 6,432 views
- 19 citations
Original Research
Published on 24 Aug 2023
Integration of human stem cell-derived in vitro systems and mouse preclinical models identifies complex pathophysiologic mechanisms in retinal dystrophy
in Molecular and Cellular Pathology
Frontiers in Cell and Developmental Biology
doi 10.3389/fcell.2023.1252547
- 5,321 views
- 5 citations
Original Research
Published on 23 Dec 2020
Mutation Screening in the miR-183/96/182 Cluster in Patients With Inherited Retinal Dystrophy
in Signaling
Frontiers in Cell and Developmental Biology
doi 10.3389/fcell.2020.619641
- 3,655 views
- 8 citations