Glaucoma In Knobloch Syndrome: Clinical Association And Incidence Of Joag And Pcg

To assess the association between Knobloch Syndrome (KS) and the risk of developing congenital glaucoma, specifically Juvenile Open-Angle Glaucoma (JOAG) and Primary Congenital Glaucoma (PCG).

King Khaled Eye Specialist Hospital & Research Center, Riyadh, Saudi Arabia. 

This retrospective study included 98 eyes from 49 patients diagnosed with Knobloch Syndrome at King Khaled Eye Specialist Hospital (KKESH), Riyadh, Saudi Arabia, from 1990 to 2024. Demographic data, baseline intraocular pressure (IOP), consanguinity status, glaucoma development, type of glaucoma, incidence of retinal detachment (RD), and glaucoma relation to RD were collected and analyzed. Statistical analyses included descriptive statistics, Chi-square tests, and T-tests to evaluate the significance of associations.

The mean age was 64.20 months (± 60.60), and the mean baseline intraocular pressure (IOP) was 16.07 mmHg (± 4.98). The majority were male (57.14%) with a high incidence of consanguinity (83.67%). Glaucoma developed in 21 eyes (21.43%), predominantly Juvenile Open-Angle Glaucoma (JOAG; 6.12%) and Primary Congenital Glaucoma (PCG; 4%). Retinal detachment (RD) occurred in nearly half of the eyes (48.98%), glaucoma developed after RD repair seen in 5.10% of cases. Statistical analyses demonstrated significant associations between KS and glaucoma subtypes JOAG (p<0.001), PCG (p=0.041), and combined JOAG/PCG cases (p<0.001), highlighting an increased glaucoma risk in KS patients. 

Patients with Knobloch Syndrome have a significantly increased risk of developing congenital glaucoma, particularly JOAG and PCG. Regular and thorough ophthalmologic evaluations are recommended for early glaucoma detection and management.