Figure 2.

Clinical results. (A) Fundus images and optical coherence tomography scans of the clinical study patient VIII-812. (B) Fundus image and optical coherence tomography scan of clinical study patient III-804. (C) Example of a severely affected albinism patient. Note the completely translucent fundus accompanied by grade four foveal hypoplasia.²¹ The patient had two mutations in the TYR gene (c.164G > A and c.896G > A), visual acuity was 1.0 logMAR, and patient had nystagmus, and complete iris translucency. (D) Example of an albinism patient without obvious hypopigmentation of the fundus, comparable to patient FIII-804 with FHONDA. Note the minimal foveal hypoplasia grade 1.²¹ Other manifestations were also mild, with a suboptimal visual acuity of 0.3 logMAR, nystagmus, and absence of iris translucency. The patient was homozygote for mutation c.1037-7T > A in the TYR gene. All optical coherence tomography scans of the left eye and right eye had the same grade of foveal hypoplasia.