# Paediatric Retinal Detachment in a Patient With Coexistent Stickler and Noonan Syndromes: The Importance of a Multidisciplinary Approach

## TL;DR

A 12-year-old boy with two genetic syndromes had retinal detachment and required multiple surgeries, showing the need for a team approach in complex cases.

## Contribution

First reported case of Stickler and Noonan syndromes coexisting with retinal detachment.

## Key findings

- Patient had successful surgical outcomes after multiple interventions for retinal detachment.
- Genetic testing confirmed pathogenic variants in COL11A1 and PTPN11.
- Multidisciplinary care is essential for managing complex inherited vitreoretinal disorders.

## 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.