An 11-year-old boy presents with slowly progressive bilateral loss of central vision. Fundoscopy shows yellow-white pisciform flecks scattered at the level of the retinal pigment epithelium and a beaten-bronze appearance at the fovea. Fluorescein angiography demonstrates a markedly dark choroid. The most likely diagnosis is:

• A Stargardt disease ✓
• B Best vitelliform macular dystrophy
• C Cone dystrophy
• D Juvenile X-linked retinoschisis

Explanation

Stargardt disease is the commonest inherited macular dystrophy of childhood, usually autosomal recessive due to mutations in the ABCA4 gene affecting the rim protein of photoreceptor discs. Lipofuscin accumulation in the retinal pigment epithelium blocks choroidal fluorescence, producing the characteristic dark or silent choroid on fluorescein angiography. Best disease is autosomal dominant with a vitelliform egg-yolk lesion and a normal electro-oculogram light rise being abolished, while cone dystrophy spares the dark choroid sign.

Reference: Kanski's Clinical Ophthalmology, 9th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.