Abstract
Purpose:
To examine the ATOH7 gene in patients with congenital retinal detachment and related conditions.
Methods:
Sixty-four probands; 4 patients with uni- or bilateral leukocoria, 56 patients with familial exudative vitreoretinopathy (FEVR) but no leukocoria, and 4 patients with bilateral falciform retinal folds other than FEVR were studied. Prior to the study, all patients had been found not to have known FEVR-causing mutations. Direct sequencing was performed following polymerase chain reaction of the exon of the ATOH7 gene. The signs and symptoms that are characteristic of individuals with ATOH7 mutations were determined.
Results:
A homozygous mutation in the ATOH7 gene, an in-frame deletion of 8 amino acids (p.R41_R48del), was found in a patient with bilateral leukocoria with a total retinal detachment. Two FEVR patients were found to carry two heterozygous mutations in the ATOH7 gene, p.R41_R48del and p.(E134*), and these were not found in 215 unrelated controls (Fisher’s exact P = 0.0421).
Conclusions:
These results add evidence that congenital retinal detachments in the reported cases are a single clinical entity with mutations in the ATOH7 gene. Mutations in ATOH7 gene can account for 3.1% of patients with FEVR, but they are unlikely to be the sole causative gene because of a lack of segregation.