Ophthalmological and Genetic Profile in Knobloch Syndrome

Area of Science:

• Ophthalmology
• Genetics
• Medical Research

Background:

• Knobloch syndrome (KNO) is a rare genetic disorder.
• It is characterized by ocular abnormalities, including high myopia and retinal detachment.
• Genetic variants in the COL18A1 gene are associated with KNO.

Purpose of the Study:

• To analyze the clinical and genetic characteristics of Knobloch syndrome (KNO).
• To focus on retinal detachment (RD) characteristics and surgical outcomes.
• To identify variants in the COL18A1 gene within a large cohort.

Main Methods:

• Retrospective, multicenter interventional/observational case series.
• Included 34 patients (68 eyes) with clinically and genetically confirmed KNO.
• Collected data on demographics, clinical findings, surgical techniques, outcomes, and COL18A1 genetic testing.

Main Results:

• Retinal detachment (RD) occurred in 50% of eyes, with a median onset of 2.5 years.
• Macular hole (MH)-related RD accounted for 57% of cases, presenting early.
• Surgical success rates improved from 54% to 69% with reoperation; grafts doubled reattachment rates for MH-RD (82% vs 40%).
• Identified 14 COL18A1 variants, including nine novel ones.

Conclusions:

• Knobloch syndrome presents challenges including early-onset RD and subtle macular holes.
• Early recognition of MH-RD and surgical use of grafts can improve outcomes.
• Genetic testing confirms diagnosis and aids in counseling for this rare disorder.