Figure 5 of Li, Mol Vis 2011; 17:3326-3332.


Figure 5. Optical coherence tomography of three patients shows thinning of the retina and loss of photoreceptor layers compared with the mother (I:2) who has normal fundus. Patient II:1 had similar changes, compared to patients II:2 and II:3. It indicated the affected member II:1 who carried a third mutant allele in a second gene may not have more severe phenotypes than other affected members in the family.