Paediatric Retinal Detachment in a Patient With Coexistent Stickler and Noonan Syndromes: The Importance of a Multidisciplinary Approach
Year: 2026
Type: article
Study design: Case Report
Abstract: We report the case of a 12-year-old boy of Zimbabwean descent with coexistent Stickler and Noonan syndromes who was referred to our unit after being diagnosed with a macula-on inferior rhegmatogenous retinal detachment (RRD). His ophthalmic history was otherwise unremarkable. Systemic assessment revealed dysmorphic features consistent with both syndromes, and genetic testing confirmed heterozygous pathogenic variants in COL11A1 and PTPN11, inherited from the mother and father, respectively. The patient underwent multiple surgical interventions, including scleral buckling and pars plana vitrectomy with subretinal fluid drainage, laser retinopexy, and hexafluoroethane (C₂F₆) gas tamponade, ultimately achieving anatomical success and stable visual acuity at 11 months. To the best of our knowledge, this case is the first recorded coexistence of Stickler and Noonan syndromes in a patient with RRD, highlighting the significance of a multidisciplinary approach involving Ophthalmology, Genetics, and Paediatrics. Early detection of syndromic manifestation, comprehensive systemic evaluation, genetic diagnosis, and strategic surgical planning are essential to optimise functional and anatomical outcomes in paediatric patients with complex inherited vitreoretinal disorders.
Source: Cureus
Authors: Yasmin Bakr, Youssef Helmy, Catherine Qin, Dimitrios Kalogeropoulos, Marta Latasiewicz
Language: English
Topic: Retinal and Macular Surgery
Subfield: Radiology, Nuclear Medicine and Imaging
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7119530966