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Long-term follow-up of a CRB1-associated maculopathy |
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| Authors: | Dario Pasquale Mucciolo Vittoria Murro Dario Giorgio Ilaria Passerini Andrea Sodi Gianni Virgili |
| Affiliation: | 1. Department of Surgery and Translational Medicine, University of Florence, Florence, Italydario.mucciolo@gmail.com;3. Department of Surgery and Translational Medicine, University of Florence, Florence, Italy;4. Department of Genetic Diagnosis, Careggi Teaching Hospital, Florence, Italy |
| Abstract: | 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 |