32 year old, asymptomatic male referred by Optometrist with bilateral retinal findings.
What is your differential diagnosis?
What other ancillary tests or investigations would you perform?
Fundus Autofluorescence: hyperautofluorescent pisciform flecks
OCT: sub-RPE lipofuscin and perifoveal loss of photoreceptors
Diagnosis: Stargardt Disease
Stargardt Disease is the most common Macula Dystrophy. An Autosomal Recessive condition typically caused by a mutation in the ABCA4 gene, Stargardt Disease affects 1 in 10,000 people. Patients are often asymptomatic however can present with colour vision changes, central vision loss and light sensitivity. The pisciform yellow flecks seen throughout the fundus hyperautofluorescence and are formed by the accumulation of lipofuscin within the Retinal Pigment Epithelium. Management is supportive and includes genetic testing, regular monitoring and the correction of any refractive error. Vitamin A supplements should be avoided.