Fig. 6.

Pedigrees of three patients with mutations in TTLL5. P1 was found to possess two heterozygous mutations in TTLL5 with segregation of variants that was performed in an unaffected sister and mother (A). The family declined to report which of the family members carried which variant; however, the performing laboratory confirmed that the mutations were located on opposing chromosomes. P2 was found to possess two heterozygous mutations in TTLL5 with segregation of the variants performed in two asymptomatic sisters (B). The older sibling was found to be a heterozygous carrier of one variant while the younger sibling was found to carry both heterozygous mutations but had not been evaluated by an ophthalmologist at the time. P3 was found to possess a homozygous variant that was also identified in an affected brother (C). While segregation in unaffected family members was not performed, the laboratory ruled out any deletions that may be responsible for homozygosity