The microphthalmia-associated transcription factor (MITF) is a basic helix-loop-helix leucine zipper transcription factor, which regulates melanocyte development and the biosynthetic melanin pathway.

In the present study, three affected patients (I-2, II-2, III-1) and one unaffected member (I-1) from an isolated village in Inner Mongolia in China were involved in our study (Figure 1a). The proband ...

On Buton Island in Indonesia, a rare genetic disorder called Waardenburg Syndrome has led to a high prevalence of striking blue eyes among the Buton tribe. While these eyes are visually captivating, ...

A 2-month-old male infant was referred to our ophthalmology clinic because of his iris discoloration. We observed complete iris heterochromia, with dark brown in the right iris and blue in the left ...

IN 1951 Waardenburg 1 first described the syndrome consisting of lateral displacement of the inner canthi of the eye and of the inferior lacrimal puncta (dystopia canthi medialis and punctorum ...

Niyati Kantaliya, a one-year-old, recently received a bionic ear at KEM Hospital, mirroring her elder sister's surgery a decade prior. Both sisters share congenital deafness and blue eyes, indicative ...

Please provide your email address to receive an email when new articles are posted on . Researchers at the National Eye Institute have identified the genetic underpinnings of a rare disorder that ...

Beth Leipholtz from Minnesota is candid about her son living with Waardenburg syndrome. It's a genetic condition that affects the coloring of skin, hair, and eyes, according to the Cleveland Clinic.