Simplex Crumbs Homologue 1 Maculopathy Masquerading as Juvenile X-Linked Retinoschisis in Male Patients. (October 2020)

• Record Type: Journal Article
• Authors: Oh, Daniel J.; Sheth, Veeral; Fishman, Gerald A.; Grassi, Michael A.
• Is Part Of: Journal of vitreoretinal diseases. Volume 4:Number 5(2020)
• Page Start: 437
• Page End: 440
• Publication Date: 2020-10
• Subjects: CRB1 mutation -- retina -- retinal degenerative diseases -- retinoschisis; Retina -- Diseases -- Periodicals; Vitreous body -- Diseases -- Periodicals; Retina -- Diseases; Vitreous body -- Diseases; Periodicals; 617.735005
• DOI: 10.1177/2474126420916079
• Languages: English
• ISSNs: 2474-1264

Abstract

Purpose: We demonstrate that Crumbs homologue 1 ( CRB1 ) maculopathy should be considered in the differential of petaloid pigmentary changes in the macula of young children with good vision who may be asymptomatic. Methods: We report on 2 unrelated male patients presenting at a young age with decreased vision from a macular dystrophy due to biallelic CRB1 mutations. Results: In addition to a previously described pathogenic variant, Ile167Gly169del, 2 new pathogenic missense variants in CRB1, Thr745Met and Cys948Tyr, are reported here. Conclusions: Although CRB1 mutations have been more commonly described in retinitis pigmentosa and Leber congenital amaurosis, we demonstrate that mutations in CRB1 can cause a maculopathy in which initial features can resemble juvenile X-linked retinoschisis. We show that the accompanying macular edema is responsive to carbonic anhydrase inhibitors. With long-term follow-up for each case, we illustrate the natural history of CRB1 maculopathy based on clinical examination and diagnostic imaging.