Diffuse retinal vascular leakage and cone–rod dystrophy in a family with the homozygous missense c.1429g>a (p.gly477arg) mutation in crb1

Conclusion: To the best of our knowledge, diffuse vascular leakage without telangiectasia or exudation, with bull's eye maculopathy, has not been reported previously in CRB1-cone rod dystrophy. This expands the phenotype complexity associated with CRB1 mutations and confirms that dystrophies associated with mutations in this gene may appear with features of uveitis.
Source: Retinal Cases and Brief Reports - Category: Opthalmology Tags: Case Report Source Type: research