Identification of a novel SLC45A2(W74R) variant in a family with autosomal dominant inherited OCA. (a) Hair of an age- and sex-matched control of the proband and affected members of the OCA family. Brownish hair was observed in all affected family members, with the proband being the most severely affected. (b) Anterior segment photographs of the proband. Iris hypopigmentation was noted in both eyes. (c) Video-nystagmography (VNG) result of the proband. The horizontal axis represents time in seconds, and the vertical axis represents eye position in degrees (upward indicates rightward movement, and downward indicates leftward movement). The VNG recording represents horizontal position changes during spontaneous fixation. A 2- to 3-Hz bilateral symmetric pendular nystagmus was observed (red line: right eye; blue line: left eye). (d) The pedigree revealed a dominant inheritance pattern. Targeted panel sequencing identified a novel heterozygous c.220C>T:p.(Trp74Arg) variant in SLC45A2. Sanger sequencing confirmed the variant was segregated in the affected family members. Although we could not examine the affected grandmother, the proband's mother indicated that the grandmother had nystagmus and reduced visual acuity since childhood.
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