AI Article Synopsis
- Pigmentary retinal dystrophy (PRD) is a genetic disorder that leads to the breakdown of important cells in the retina, potentially causing vision problems.
- A pediatric patient with PRD has been identified with harmful mutations in the PRPH2 and PEX1 genes, resulting in macular swelling and vision loss.
- The case highlights various gene mutations linked to PRD and suggests treatment options including steroid injections and eye drops, while also discussing the management of the condition.
Article Abstract
Pigmentary retinal dystrophy (PRD) is a group of inherited disorders involving the progressive degeneration of rod and cone photoreceptors and the retinal pigment epithelium (RPE), which can progress to pigmentary retinopathy (PR). We present a case of PRD in a female pediatric patient who has pathogenic variants in the PRPH2 and PEX1 genes. The patient has associated macular edema and secondary visual impairment. Treatment has included serial dexamethasone intravitreal implant injections and topical dorzolamide. The PEX1 gene mutation is associated with peroxisome biogenesis disorder-Zellweger syndrome spectrum (PBD-ZSS) and resulting retinal dystrophies. The PRPH2 mutation may play a role in macular edema and PRD, as it is implicated in macular degeneration, choroid defects, and photoreceptor dysfunction. In this case, we review multiple gene mutations playing potential etiologic roles for PRD and discuss care management.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11162583 | PMC |
| http://dx.doi.org/10.1093/omcr/omae067 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Presumed bilateral acute idiopathic maculopathy in a pediatric patient.
Am J Ophthalmol Case Rep
March 2025
Department of Ophthalmology, Stanley M. Truhlsen Eye Institute, University of Nebraska Medical Center, Omaha, NE, USA.
Purpose: To describe a rare case of presumed bilateral acute idiopathic maculopathy (AIM) in a pediatric patient.
Observation: An 11-year-old male was evaluated for a "fuzzy Dorito-shaped" spot in the central vision of his right eye (OD) that started 3 days before presenting to our clinic. On examination, best-corrected visual acuity (BCVA) was counting fingers at 5 feet OD, and 20/25 in the left eye (OS).
Retrospective study of incidence/prevalence of pigmentary maculopathy and retinopathy in patients receiving pentosan polysulfate sodium.
PLoS One
January 2025
Verana Health, San Francisco, CA, United States of America.
Purpose: To evaluate prevalence and incidence rates of pigmentary maculopathy and retinopathy (PM/PR), and visual acuity (VA) changes in patients exposed to pentosan polysulfate sodium (PPS) and in patients with interstitial cystitis (IC) not exposed to PPS.
Methods: This is a retrospective cohort study (January 2015-March 2021) which included adult de-identified patients from the American Academy of Ophthalmology IRIS® Registry (Intelligent Research in Sight) and Komodo Health database. Three patient cohorts were identified: two PPS-exposed patient cohorts, and Non-PPS-exposed IC patient cohort.
Retinal Dystrophy Associated with Homozygous Variants in .
Genes (Basel)
December 2024
Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.
: Neural retina leucine zipper (NRL) is a transcription factor involved in the differentiation of rod photoreceptors. Pathogenic variants in the gene encoding NRL have been associated with autosomal dominant retinitis pigmentosa and autosomal recessive clumped pigmentary retinal degeneration. Only a dozen unrelated families affected by recessive -related retinal dystrophy have been described.
View Article and Find Full Text PDF[Cataracts extraction combined with multifocal intraocular lens optic implantation in Berger space in school-age children with cataracts].
Zhonghua Yan Ke Za Zhi
January 2025
Eye Institute of Shandong First Medical University, Qingdao Eye Hospital of Shandong First Medical University, State Key Laboratory Cultivation Base, Shandong Key Laboratory of Eye Diseases, School of Ophthalmology, Shandong First Medical University, Qingdao266071, China.
To evaluate the safety and efficacy of cataract extraction combined with multifocal intraocular lens (IOL) optic implantation in Berger space in school-age children with cataracts. It was a prospective study. The clinical data of school-age children with cataract who underwent cataract extraction combined with multifocal IOL implantation at Qingdao Eye Hospital of Shandong First Medical University from January 2019 to June 2023 were collected.
View Article and Find Full Text PDFAnti-VEGF therapy for proliferative diabetic retinopathy in Kearns-Sayre syndrome.
Doc Ophthalmol
December 2024
Save Sight Institute Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
Purpose: Multiple mitochondrial syndromes, such as Kearns-Sayre, involve the concurrence of diabetes mellitus and inherited pigmentary retinopathy. It is rare, however, for proliferative disease to develop in these patients as existing inner retinal dysfunction is thought to be protective.
Methods: To our knowledge this is the first description of proliferative diabetic retinopathy (PDR) in Kearns-Sayre syndrome.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!