Fundus photograph in a 2-year-old with Homocysteinuria with Methylmalonic Acidemia (type C).
Fundus photograph in a 2-year-old with Homocysteinuria with Methylmalonic Acidemia (type C).
Fundus photograph (LE) in same case.
Fluorescein Angiography
Fluorescein angiography: normal vascular filling without leakage or staining of the vessels. The macular lesions were initially hypofluorescent but stained in the late phase.
Colour retinography
Maculopathy secondary to lipofuscin accumulation, subsequent photoreceptor death from low methionine levels and accompanying RPE degeneration.
Autofluorescence
Infrared
OCT (B-Scan) longitudinal
Colour retinography
Bilateral pseudocolobomatous macular lesion. Pigmentary changes in the middle periphery. Discrete pallor of the discs.
Autofluorescence
Stability of lesions.
Colour retinography
BCVA (binoc) a 15 inches 20/80.
