Phenotype Variability in the Patients of Familial Exudative Vitreoretinopathy: the RCBTB1 case.

Phenotype assessment includes levels of visual acuity, fluorescein angiographic and other clinical examinations if a mutation carrier feels uncomfortable with his/her eyesight and visits an ophthalmologist. To the Editor: We read with interest the article by Yang and colleagues.[1] The authors argued that in their series of 29 families with RCBTB1 variants, none had FEVR syndrome, in contrast to what we have reported that corresponding I RCBTB1 i variants were identified in one family of Coats disease and one family of FEVR with functional studies validated.[2] In response to Yang et al., we would like to clarify a few points. In summary, phenotype variability is common among mutation carriers and between the two eyes of individuals affected by FEVR, from asymptomatic to complete blindness. [Extracted from the article]