Fundus photograph in a 3-year-old male patient with homocystinuria with methylmalonic acidemia. Generalized fundus hypopigmentation. Maculopathy secondary to central RPE atrophy and photoreceptors degeneration evolving to a macular pseudo-coloboma.
Fundus photograph in a 3-year-old male patient with homocystinuria with methylmalonic acidemia. Generalized fundus hypopigmentation. Maculopathy secondary to central RPE atrophy and photoreceptors degeneration evolving to a macular pseudo-coloboma.
Fluorescein angiogram at late phase showing maculopathy in target, in same case.
Fluorescein Angiography
Colour retinography
Autofluorescence
Colour retinography
Autofluorescence
Infrared
OCT (B-Scan) longitudinal
Colour retinography
VA: 20/200. Horizontal nystagmus. Ocular fundus with pigmentary changes and centromacular atrophic macular pseudocoloboma. Peripheral RPE changes typical of the disease.
