FHONDA syndrome

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Classification according to ICD-10
Q15.8 Other specified congenital malformations of the eye
ICD-10 online (WHO version 2019)

The FHONDA syndrome , acronym for F ovea - H ypoplasie , O ptic N erve D ecussation (chiasm) and malformation of the front A ugensegmentes , is a very rare congenital disease with the eponymous principal features.

Synonym : English Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome

The first description comes from the year 2004 by the British doctors B. Pal, MD Keen and coworkers.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

root cause

The disease are mutations in the SLC38A8 - gene on chromosome 16 locus q23.3 based on which a solute carrier family coded.

Clinical manifestations

Clinical criteria are:

  • Hypoplasia of the central fovea
  • Malformation of the optic nerve junction with an increased number of misdirected nerve fibers
  • Axenfeld anomaly with malformation of the anterior segment of the eye.
  • no albinism
  • congenital nystagmus , decreased vision , occasionally strabismus

In addition to microphthalmia and coloboma occur.

diagnosis

The diagnosis results from the clinical ophthalmological examination together with the medical imaging by magnetic resonance tomography .

literature

  • K. Ahmadi, A. Fracasso, JA van Dijk, C. Kruijt, M. van Genderen, SO Dumoulin, MB Hoffmann: Altered organization of the visual cortex in FHONDA syndrome. In: NeuroImage. [electronic publication before printing] March 2018, doi: 10.1016 / j.neuroimage.2018.02.053 , PMID 29524626 (review).
  • RA Shields, KM Cavuoto, CA McKeown, TC Chang: Unilateral foveal hypoplasia in a child with bilateral anterior segment dysgenesis. In: Clinical case reports. Volume 3, number 7, July 2015, pp. 676-678, doi: 10.1002 / ccr3.319 , PMID 26273469 , PMC 4527823 (free full text).
  • M. Al-Araimi, B. Pal, JA Poulter, MM van Genderen, I. Carr, T. Cudrnak, L. Brown, E. Sheridan, MD Mohamed, J. Bradbury, M. Ali, CF Inglehearn, C. Toomes : A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. In: Molecular vision. Volume 19, 2013, pp. 2165-2172, PMID 24194637 , PMC 3816992 (free full text).

Individual evidence

  1. ↑ a b c Foveal hypoplasia-optic nerve junction-dysgenesis of the anterior segment syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ B. Pal, MD Mohamed, TJ Keen, GA Williams, JA Bradbury, E. Sheridan, CF Inglehearn: A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2. In: Journal of Medical Genetics . Volume 41, number 10, October 2004, pp. 772-777, doi: 10.1136 / jmg.2004.020040 , PMID 15466012 , PMC 1735603 (free full text).
  3. ↑ Foveal hypoplasia 2, with or without optic nerve misrouting and / or anterior segment dysgenesis.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ Axenfeld anomaly. In: Orphanet (Rare Disease Database).