First Report of Mexican Patients with PACS1 -Related Neurodevelopmental Disorder and Review of the PACS1 -, PACS2 -, and WDR37 -Related Ophthalmological Manifestations.

We reviewed the ocular phenotypes reported in 74 individuals with -related NDD and the overlaps with and -related syndromes. We found that the 3 syndromes have in common the presence of colobomata, ptosis, nystagmus, strabismus, and refractive errors, whereas microphthalmia, microcornea, and Peters anomaly are found only among individuals with -related NDD and syndrome, being more severe in the latter. This supports the previous statement that the so-called -- axis might have an important role in ocular development and also that the specific ocular findings could be useful in the clinical differentiation between these related syndromes.