20 February 2026
: Case report 
Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant
Challenging differential diagnosis, Management of emergency care, Rare disease, Congenital defects / diseases
Faisal Al-Qahtani ADE 1, Motazz A. Alarfaj ABCDEF 2*, Abdulelah Al-Abdullah ADE 3DOI: 10.12659/AJCR.951257
Am J Case Rep 2026; 27:e951257
Figure 1 Family pedigree and segregation analysis. Squares indicate male relatives, circles indicate female relatives, and the arrow denotes the proband. Colored sectors indicate clinical features (red, history of retinal detachment; blue, high myopia only). Roman numerals (I–III) denote generations. Targeted Sanger sequencing for COL2A1 c.3642delT (p.Gly1215Alafs*12) demonstrated that the father is heterozygous (positive) and the mother is negative; siblings were not tested. The inheritance pattern is autosomal dominant with variable expressivity, and the variant segregates with disease in the family.