Figure 1From: Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiencyRetinal photograph of Patient 1 at 15½ years old identified retinitis pigmentosa. Widespread peripheral retinal atrophy was seen with relative sparing of the central macula. Clinically this corresponds to involvement of peripheral rods and relative sparing of cones.Back to article page