Fundus photograph in a 16-year-old male patient with LCHAD. Severe form of chorioretinopathy secondary to LCHAD deficiency (stage 3/4). Almost complete atrophy of the RPE with visualization of choroidal vessels
Fundus photograph in a 16-year-old male patient with LCHAD. Severe form of chorioretinopathy secondary to LCHAD deficiency (stage 3/4). Almost complete atrophy of the RPE with visualization of choroidal vessels
Autofluorescence photograph in LCHAD patient. Complete absence of autofluorescence.
OCT (B-Scan) longitudinal
Complete desorganization of the outer retinal layers.
Colour retinography
Autofluorescence
Infrared
OCT (B-Scan) longitudinal
Complete desorganization of the outer retinal layers.
Colour retinography
Autofluorescence
Infrared
OCT (B-Scan) longitudinal
Colour retinography
VA: HM; no central vision. Almost total scotoma.
