Abstract

4 patients out of 2 pedigrees present an association of dominant drusen, central chorioretinal dystrophy and retinal crystals. It seems to be transmitted in an autosomal dominant mode. Drusen have also been found in 4 patients (3rd generation) at the age of 40 years. Central chorioretinal dystrophy and retinal crystals have not been found prior to the age of 60 years. Visual acuity and central scotoma depend on the central chorioretinal dystrophy. Electro-oculograms and electroretinograms exhibited relatively little changes. 2 patients showed phenotype II and IV of Fredriksen.

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.