Purpose: To report a novel pathological variant of CRB1 previously reported in pigmented paravenous chorioretinal atrophy (PPCRA), present in an infant with color-vision abnormalities.

Case Report: A 6-year-old male is brought for consultation by his parents for noticing color vision deficiency. Visual acuity was 20/30 (LogMAR 0.2) and 20/20 (LogMAR 0.0) in the right and left eye, respectively. Ophthalmologic examination was unremarkable, and optical coherence tomography and retinography were normal. Farnsworth Munsell test was initially normal but follow-up test at 6-months was altered in protanope, deuteranomal and tritanope. Genetic testing revealed a pathogenic variant in CRB1: c.2506 A (p.Pro836Thr).

Conclusion: CRB1 mutations have been associated with a spectrum of ocular diseases, including retinitis pigmentosa, Leber’s congenital amaurosis, and early-onset angle-closure glaucoma. A pathogenic variant associated with PPCRA was found, a rare disorder with no-specific treatment. Most PPCRA patients maintain a stable vision, though the case here presented was associated with dyschromatopsia.