Consanguinity has been reported. A region containing 33 genes at 16q23.2-24.2 co-segregates with the disorder but no mutation has been identified. Mutations in FOXC2 and PAX6 (that code for transcription factors) have been specifically ruled out in selected families. However, the phenotype is consistent with dysfunction of some other as yet unidentified transcription control factor or promotor region.
An autosomal dominant disorder with somewhat similar features known as anterior segment mesenchymal dysgenesis (107250) has been described but its unique status remains to be established. Foveal hypoplasia has not been reported but an associated mutation in FOXE3 could be responsible.
Isolated foveal hypoplasia without anterior chamber malformations (136520) has been reported among families of Jewish Indian ancestry in which homozygous mutations SLC38A8 cosegregated.
With the widespread utilization of OCT measurements, it has become apparent that underdevelopment of the fovea can be a feature of numerous ocular disorders (more than 20 in this database). In most conditions, the foveal dysplasia is part of a disease complex as in this condition.
