Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 14-01-2014

Symbol	FHONDA
Location	16q23.3
Name	Foveal Hypoplasia and Optic-Nerve-Decussation Defects and Anterior segment dysgenesis
Other name(s)	foveal hypoplasia-2 with or without optic nerve misrouting and/or anterior segment dysgenesis
Corresponding gene	SLC38A8
Other symbol(s)	FVH2
Main clinical features	a poorly defined foveal avascular zone, absent or abnormal foveal and/or macular reflexes, and absent foveal pits, consistent with a diagnosis of foveal hypoplasia Visual-evoked potential (VEP) analysis has shown optic nerve misrouting, in which an increased number of axons cross the optic chiasm to innervate the contralateral cortex associated to either posterior embryotoxon or Axenfeld anomaly, indicating dysgenesis of the anterior segment
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

Remark(s)