Stickler syndrome is one of the most common clinical syndromes in Europe although it is also one of the least known and consequently most misidentified. Because Stickler syndrome affects connective tissue, many different symptoms present, from vision to mobility difficulties. This article examines the main symptoms of the syndrome and includes an insightful personal account showing how it affects the whole family.

Download full-text PDF

Source

Publication Analysis

Top Keywords

stickler syndrome
12
nurses stickler
4
syndrome
4
syndrome stickler
4
syndrome common
4
common clinical
4
clinical syndromes
4
syndromes europe
4
europe consequently
4
consequently misidentified
4

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 PDF
Article 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.
View Article and Find Full Text PDF

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 PDF

Ophthalmic 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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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!