Introduction. In this retrospective study we evaluated the multimodal visualization of
retinal genetic diseases to better understand their natural course. Material and Methods. We reviewed the charts of 70 consecutive patients with different genetic
retinal pathologies who had previously undergone multimodal imaging analyses. Genomic
DNA was extracted from peripheral blood and genotyped at the known locus for the different diseases. Results. The medical records of 3 families of a 4-generation pedigree affected by
North Carolina macular dystrophy were reviewed. A total of 8 patients with
Stargardt disease were evaluated for their two main defining clinical characteristics, yellow subretinal flecks and central
atrophy. Nine male patients with a previous diagnosis of
choroideremia and eleven female carriers were evaluated. Fourteen patients with
Best vitelliform macular dystrophy and 6 family members with autosomal recessive
bestrophinopathy were included. Seven patients with
enhanced s-cone syndrome were ascertained. Lastly, we included 3 unrelated patients with
fundus albipunctatus. Conclusions. In hereditary
retinal diseases, clinical examination is often not sufficient for evaluating the patient's condition.
Retinal imaging then becomes important in making the diagnosis, in monitoring the progression of disease, and as a surrogate outcome measure of the efficacy of an intervention.