Childhood glaucoma encompasses a group of rare but severe ocular disorders characterized by increased intraocular pressure (IOP), posing significant risks to vision and quality of life. Primary congenital glaucoma has a prevalence of one in 10,000–68,000 people in Western countries. More worryingly, it is responsible for 5–18% of all childhood blindness cases. According to the Childhood Glaucoma Research Network (CGRN), this spectrum of disease is classified into primary glaucoma (primary congenital glaucoma and juvenile open-angle glaucoma) and secondary glaucomas (associated with non-acquired ocular anomalies, non-acquired systemic disease, acquired conditions, and glaucoma after cataract surgery). They present very specific ocular characteristics, such as buphthalmos or progressive myopic shift, corneal modifications such as Haab striae, corneal edema or increased corneal diameter, and also glaucoma findings including high intraocular pressure, specific visual fields abnormalities, and optic nerve damage such as increased cup-disc ratio, cup-disc ratio asymmetry of at least 0.2 and focal rim thinning. Surgical intervention remains the cornerstone of treatment, and initial surgical options include angle surgeries such as goniotomy and trabeculotomy, aimed at improving aqueous outflow. For refractory cases, trabeculectomy and glaucoma drainage devices (GDDs) serve as second-line therapies. Advanced cases may require cyclodestructive procedures, including transscleral cyclophotocoagulation, reserved for eyes with limited visual potential. All in all, with appropriate management, the prognosis of PCG may be quite favorable: stationary disease has been reported in 90.3% of cases after one year, with a median visual acuity in the better eye of 20/30. Immediate recognition of the specific signs and symptoms by caregivers, primary care providers, and ophthalmologists, followed by prompt diagnosis, comprehensive surgical planning, and involving the caregivers in the follow-up schedule remain critical for optimizing outcomes in childhood glaucoma management.

We report a case of a 16-year-old girl presenting to our clinic with decreased visual acuity and increased intraocular pressure in both eyes. The ophthalmological examination revealed best-corrected visual acuity (BCVA) of 0.3 in the right eye (R.E.) and 0.4 in the left eye (L.E.) and intraocular pressure (IOP) of 46 mmHg in the R.E. and 42 mmHg in the L.E., with a 360° closed angle on gonioscopy, pupillary block due to bulging, a hyper-spherical lens and high corneal thickness, without ectopia lentis or cataract. The eyes responded poorly to pharmacological mydriasis; therefore, the lens equator could not be visualised. The patient had a history of pulmonary stenosis, short stature and no significant cognitive deficits. These elements point to the diagnosis of Weill–Marchesani syndrome, and the ophthalmological management was surgical, including lens extraction and the installation of a capsular tension ring, an intraocular lens and a Shunt ExPress implantation. Evolution was favourable, with improved BCVA of 0.7 in the R.E. and 0.63 in the L.E. and IOP of 14 mmHg in the R.E. and 13 mmHg in the L.E., without topical or systemic treatment at the 6-month follow-up. Weill–Marchesani syndrome has a complex presentation, with ophthalmological, musculoskeletal, cardiac and psychiatric manifestations. Usually, this leads to a need for a multidisciplinary approach. The ophthalmologic symptoms are often the cause of presentation to a specialist, and glaucoma is the most threatening of the ocular pathologies, with possible evolution into irreversible blindness; therefore, prompt surgery and careful follow-up become key components of the treatment plan. As a take-home message, we encourage a high degree of suspicion of Weill–Marchesani syndrome in such cases.