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 3 (A) Summary table of clinical genetic findings. (B) cDNA schematic illustrating c.3642delT (red) in exon 51, which results in a frameshift and premature termination codon, consistent with loss of function via predicted nonsense-mediated decay.