Progressive bifocal chorioretinal atrophy

A rare genetic isolated chorioretinal dystrophy characterized by distinctive slowly progressing chorioretinal atrophic lesions inducing significant visual impairment. There are three clinical stages. Atrophic macular lesion and nasal subretinal deposits are evident soon after birth (stage 1), the macular lesions progress beyond the retinal vascular arcades, and the foci of nasal atrophy coalesce into a confluent white lesion (stage 2), and marked expansion of both the macular and the nasal atrophic lesions toward the optic disc is observed (stage 3). Patients may also present with photophobia, nystagmus and myopia.