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.