Genetic cause for idiopathic foveal hypoplasia
Reviewed by Ian Reekie

The authors present a small cohort study of 19 patients with idiopathic foveal hypoplasia diagnosed based on optical coherence tomography (OCT) features. Peripheral blood samples from all 19 patients underwent next-generation sequencing and 33 genes known to be involved in albinism were assessed for variants. 2 out of the 19 patients were found to be heterozygous for known pathogenic variants in albinism linked genes, one in TYR and one in OCA2. A further 8 of the 19 patients carried likely pathogenic variants in TYR, one of whom had nystagmus but normal visual acuity. This study is limited by small sample size, and all of the included patients had very mild foveal hypoplasia without significant impact on visual acuity. Only known albinism-associated genes were tested for variants. This study suggests a genetic cause for a proportion of patients with idiopathic foveal hypoplasia. Though of limited clinical utility to individual patient, this information may be important for counselling patients, and in the future may become important as genetic medicine advances.

Genetic analysis of participants with foveal hypoplasia.
Lejoyeux R, Michaud V, Le Boité H, et al.
OPHTHALMIC GENETICS 
2025;46(6):559–62.