A 12-year-old boy presented with a total rhegmatogenous retinal detachment and a giant retinal tear in the right eye. Clinical examination, optical coherence tomography, and fundus images showed an optically empty vitreous, lattice degeneration, and retinoschisis of the macula. Genetic testing revealed mutations in the COL2A1 and RS1 genes, confirming a dual diagnosis of Stickler syndrome and X-linked retinoschisis, respectively. This represents the first published account of a patient with both Stickler syndrome and X-linked retinoschisis. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:83-86.].
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3928/23258160-20161219-13 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Orphanet J Rare Dis
January 2025
Ophthalmology Department, Centro Hospitalar e Universitário de Coimbra (CHUC), Hospitais da Universidade de Coimbra (HUC), ULS Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.
Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.
View Article and Find Full Text PDFArticle Synopsis
- The study investigates risk factors for proliferative vitreoretinopathy (PVR), a common complication after retinal detachment surgery.
- A large patient database was analyzed, identifying systemic (like age, gender, and smoking) and ocular (such as trauma and previous eye conditions) factors that correlate with increased PVR risk.
- The findings emphasize the importance of considering these risk factors in surgical planning and treatment to prevent PVR in patients with retinal detachment.
Mutation Causing Pediatric Macular Chorioretinal Atrophy Associated With Stickler Syndrome.
J Vitreoretin Dis
December 2024
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
To report a case of macular chorioretinal atrophy associated with Stickler syndrome in a pediatric patient with a genetically confirmed mutation. A single case was evaluated. A 3-year-old girl was found to have macular chorioretinal atrophy in the right eye and a retinal detachment in the left eye.
View Article and Find Full Text PDFOphthalmic Manifestations in a Diverse Pediatric Population with Type I and Type II Stickler Syndrome.
Ophthalmol Retina
December 2024
Division of Ophthalmology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois; Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois. Electronic address:
Objective: To characterize and compare our cohorts of pediatric patients with types I and II Stickler syndrome, with a focus on ophthalmic features.
Design: Retrospective cohort study.
Subjects: Twenty-six patients (22 families) with clinical and genetic diagnoses of type I or II Stickler syndrome.
Rhegmatogenous Retinal Detachment Secondary to Type I Stickler Syndrome: Diagnosis, Treatment and Long-Term Outcomes.
Genes (Basel)
November 2024
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China.
Objective: This study aimed to clarify the genetic diagnosis of rhegmatogenous retinal detachment (RRD) secondary to type I Stickler syndrome (STL1) and evaluate the anatomical and functional outcomes of surgical treatment.
Methods: This retrospective study included 11 patients with RRD secondary to STL1. Familial and sporadic cases of STL1 were diagnosed at the Eye & ENT Hospital, Fudan University, between 2017 and 2023.
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!