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.

Long-term follow-up of a CRB1-associated maculopathy / Mucciolo, Dario Pasquale*; Murro, Vittoria; Giorgio, Dario; Passerini, Ilaria; Sodi, Andrea; Virgili, Gianni; Rizzo, Stanislao. - In: OPHTHALMIC GENETICS. - ISSN 1381-6810. - ELETTRONICO. - (2018), pp. 1-4. [10.1080/13816810.2018.1479431]

Long-term follow-up of a CRB1-associated maculopathy

Mucciolo, Dario Pasquale;Murro, Vittoria;Giorgio, Dario;Passerini, Ilaria;Sodi, Andrea;Virgili, Gianni;Rizzo, Stanislao
2018

Abstract

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.
2018
1
4
Mucciolo, Dario Pasquale*; Murro, Vittoria; Giorgio, Dario; Passerini, Ilaria; Sodi, Andrea; Virgili, Gianni; Rizzo, Stanislao
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1129967
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