Ophthalmic genetics · 2018
Long-term follow-up of a CRB1-associated maculopathy.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Mucciolo Dario Pasquale, Murro Vittoria, Giorgio Dario, Passerini Ilaria, Sodi Andrea, Virgili Gianni, Rizzo Stanislao
Аннотация
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.
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.