Bilateral macular colobomata: expanded phenotype of PCARE/C2ORF71

Introduction: Macular colobomata (MCs) are excavated chorioretinal lesions found in subjects with systemic diseases and syndromes, positive family history, congenital toxoplasmosis, North Carolina Macular Dystrophy, and other retinal dystrophies. Methods: Case report. Results: A full-term-born, otherwise healthy 18-year-old female patient with no known family history of ocular conditions presented bilateral MCs, peripheral spotty hypopigmentation, and compromised cone and rod function. Genetic testing showed the pathogenic homozygous variant NM_001029883.3:c.3604C>T (p(Arg1202*)) of C2ORF71/PCARE, a ciliary gene previously associated with RP and cone-rod dystrophy, but not previously found in cases of MCs. Conclusions: Further studies are needed to elucidate the genotype/phenotype correlation and the pathogenesis of MCs in retinal dystrophies.