Purpose: To report a long-term follow-up of a CRB1-associated maculopathy.
Methods: A case report.
Results: A 47-year-old man was diagnosed with bilateral maculopathy. The clinical picture and the foveoschisis abnormalities present in the right eye were consistent with X-linked retinoschisis. During the follow-up we observed the spontaneous passage from a foveal schitic shape to a cystic profile and then to atrophic maculopathy. Two pathogenic CRB1 mutations were detected and he was subsequently diagnosed with CRB1-associated maculopathy.
Conclusions: Our clinical case allowed us to observe three different stages in the natural history of this particular CRB1-associated macular phenotype: a foveoschisis phenotype, cystoid macular abnormalities involving outer and inner retinal layers and macular atrophy. CRB1 mutations may be a rare cause of foveal schisis which progressively evolves in atrophic maculopathy and the clinician should be aware of this unusual macular phenotype.
Keywords: CRB1; CRB1-associated maculopathy; foveoschisis; macular dystrophy.