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.
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.
Authors: Juan C Zenteno; Rocio Arce-Gonzalez; Rodrigo Matsui; Antonio Lopez-Bolaños; Luis Montes; Alan Martinez-Aguilar; Oscar F Chacon-Camacho Journal: Graefes Arch Clin Exp Ophthalmol Date: 2022-08-10 Impact factor: 3.535
Authors: Mays Talib; Mary J van Schooneveld; Jan Wijnholds; Maria M van Genderen; Nicoline E Schalij-Delfos; Herman E Talsma; Ralph J Florijn; Jacoline B Ten Brink; Frans P M Cremers; Alberta A H J Thiadens; L Ingeborgh van den Born; Carel B Hoyng; Magda A Meester-Smoor; Arthur A Bergen; Camiel J F Boon Journal: Acta Ophthalmol Date: 2021-02-02 Impact factor: 3.761
Authors: Danial Roshandel; Jennifer A Thompson; Rachael C Heath Jeffery; Danuta M Sampson; Enid Chelva; Terri L McLaren; Tina M Lamey; John N De Roach; Shane R Durkin; Fred K Chen Journal: Transl Vis Sci Technol Date: 2021-02-05 Impact factor: 3.283