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

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Synonyms: FHONDA syndrome

A rare genetic eye disease characterized by foveal hypoplasia optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis) in the absence of albinism. Patients present congenital nystagmus decreased visual acuity refractive errors and ocassionally strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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