Hereditary eye diseases are characterised by strong genetic heterogeneity and overlapping clinical presentations. Molecular genetic testing often helps establish a specific diagnosis and, in the context of clinical assessment, predict the expected progression of the disorder and initiate targeted treatment.
Flecked retina syndrome
Leber congenital amaurosis (LCA)
Leber hereditary optic neuropathy (LHON)
Night blindness, congenital stationary X-linked
Peroxisome biogenesis disorder
Usher syndrome type 1
Usher syndrome type 2
(Peripheral) eye diseases
Anterior segment dysgenesis (ASD) disorders
Congenital fibrosis of the external eye muscles (CFEOM)
Familial exudative vitreoretinopathy
WAGR syndrome (Wilms tumor aniridia syndrome)
Syndromic diseases with eye involvement
Tuberous Sclerosis Complex
Our service portfolio for hereditary eye diseases can be downloaded here.
You can find our request form for molecular genetic diagnostics here.