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foveal hypoplasia 1

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene.
Uniprot Description An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Anterior segment anomalies and cataract are observed in some FVH1 patients.
Mondo Term and Equivalent IDs
MONDO:0007628:  foveal hypoplasia 1
GARD:0000406: 
UMLS:C3805604: