Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant

Faisal Al-Qahtani; Motazz A. Alarfaj; Abdulelah Al-Abdullah

doi:10.12659/AJCR.951257

20 February 2026 : Case report Saudi Arabia

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 3}

DOI: 10.12659/AJCR.951257

Am J Case Rep 2026; 27:e951257

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Figure 2 (A) Wide-field pseudocolor fundus photograph of the right eye showing a myopic fundus with inferior rhegmatogenous retinal detachment (white star) involving the inferior outer macula. (B) Spectral-domain optical coherence tomography of the macula demonstrating sparing of the fovea (asterisk) from the retinal detachment.

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Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant

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