Objective: This study described the clinical profile of a four-generation Cebuano family with juvenile-onset open-angle glaucoma (JOAG). Methods: Thisis a case series conducted in the out-patient department of Cebu Velez General Hospital. Thirtyeight (38) members in a four-generation family from the northern part of Cebu province were investigated. General medical and ophthalmologic histories were taken. Complete ophthalmologic examination was done. Results: Forty-two (42%) percent of participants examined had increased intraocular pressures (IOP); 15 were diagnosed with JOAG, one had ocular hypertension. There were more females than males affected. Mean age when symptoms were first noted was 14.56 ±6.63 years and mean age at diagnosis was 16.3 ±7.84 years. The most common initial symptom was rainbow or halos around lights (87.5%). Mean refraction was -3.09 ±2.54 diopters for both eyes. Mean IOP on examination was 24.56 ± 20.17 mmHg. Gonioscopy showed open angles with flat iris plane. All affected participants underwent medical treatment and 69% needed surgical interventions. Conclusion This family demonstrated the typical JOAG phenotype consisting of early age of onset, strong family history with an autosomal dominant pattern of inheritance, myopia, open angles, and increased IOP refractory to medical treatment.
Glaucoma ; Ocular Hypertension ; Phenotype ; Pedigree