Fig. 1: Pedigree of the family.
From: A patient with TPCN2-related hypopigmentation and ocular phenotype
Genotypes are indicated for each family member, next to vertical bars representing each allele. N: normal allele. Electrophoregrams displaying the Sanger sequence encompassing TPCN2 variant NM_139075.4:c.628C>T;p.Arg210Cys are provided for each family member. The blue vertical bar indicates the presence of the variant in the heterozygous state in the patient. Photographs showing skin and hair color of the patient and his parents are provided. Optical coherence tomography (OCT) images of the patient is shown underneath (OD oculus dextra, OS oculus senestra). Arrows on both sides of the foveal pit point to the inner retinal layers that show intrusion in the foveal region in both eyes in the patient, whereas they are extruded from the foveal region in the healthy control. Inner retinal layers (IRL) are also indicated by brackets on the side of the images. OCT image of a healthy control is displayed at the bottom.
