Aim and objective: To report a unique presentation of Gorlin–Goltz syndrome (GGS) with congenital glaucoma.
Materials and methods: We report a case of a 3-month-old female patient with bilateral uncontrolled intraocular pressures (IOP), who was already diagnosed with GGS. Examination under anesthesia demonstrated microcornea, iris coloboma, lens subluxation in both eyes, and edematous cornea in the left eye. Intraocular pressure was 17 mm Hg in OD and 35 mm Hg in OS with Icare (Icare® PRO) tonometer on repetitive measurements. On dilated fundus examination, a large chorioretinal coloboma was seen on both eyes.
Results: On physical examination, cutaneous, dental, and skeletal anomalies associated with the GGS were found. As previously reported ocular abnormalities associated with the GGS; coloboma and microphthalmia were noted. In addition, congenital glaucoma which is not one of the known associations of GGS was also detected. For treatment, 270° transscleral diode cyclophotoablation was performed for the left eye and medical treatment was reorganized for both eyes.
Conclusion: Neonatal-onset glaucoma might be one of the important ocular manifestations of GGS.
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