RETINAL DYSTROPHIES AND SYNDROMES
Ocular Manifestations of Homocystinuria
Clinical Case 01
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
Evaluations
1st evaluation
9
0
30 11 2009
- Colour Retinography
30 11 2009
- Fluorescein Angiography
2nd evaluation
4
0
22 10 2012
- Colour Retinography
