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GTR Home > Conditions/Phenotypes > Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome

Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome

Synonyms
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM; FOVEAL HYPOPLASIA 2 WITH OR WITHOUT MICROPHTHALMIA OR COLOBOMA; FOVEAL HYPOPLASIA 2 WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS; Foveal hypoplasia 2
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (106210), microphthalmia (see 251600), albinism (see 203100), or achromatopsia (see 216900). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014). For a discussion of genetic heterogeneity of foveal hypoplasia, see FVH1 (136520). [from OMIM]

Available tests

17 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FHASD, FVH2, SNAT8, SLC38A8
    Summary: solute carrier family 38 member 8

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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