THRB and Menkes disease: Combining the phenotypic characteristics of the 12 affected individuals, we delineated the updated ophthalmologic spectrum of phenotypes associated with the splicing variant c.283 + 1G>A in THRB. Autosomal dominant retinal dystrophies such as COD (n = 4), STGD (n = 4) or MD (n = 3) represented the major clinical diagnoses that motivated the genetic testing (Table 1).