Genetic analyses for hereditary eye diseases

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.

Retinal diseases

A Achromatopsia
C Cone-rod dystrophy
F Flecked retina syndrome
L Leber congenital amaurosis (LCA)
  Leber hereditary optic neuropathy (LHON)
N Night blindness, congenital stationary X-linked
O Optic atrophy
P Peroxisome biogenesis disorder
R Retinitis pigmentosa
S Stargardt disease
U Usher syndrome type 1
  Usher syndrome type 2

(Peripheral) eye diseases

A Albinism
  Anterior segment dysgenesis (ASD) disorders
C Cataract 
  Chediak-Higashi syndrome
  Congenital fibrosis of the external eye muscles (CFEOM)
  Corneal dystrophy
F Familial exudative vitreoretinopathy
G Glaucoma
  Griscelli syndrome
H Hermansky-Pudlak syndrome
M Microphthalmia
R Retinal detachment
W WAGR syndrome (Wilms tumor aniridia syndrome)

Syndromic diseases with eye involvement

A Alagille syndrome
  Alport syndrome
B Bardet-Biedl syndrome
C CHARGE syndrome
H Hyperoxaluria
J Joubert syndrome
M Mainzer-Saldino syndrome
N Norrie syndrome 
R Refsum disease
S Senior-Loken syndrome
  Stickler syndrome
T Tuberous Sclerosis Complex
W Waardenburg syndrome

Our service portfolio for hereditary eye diseases can be downloaded here.

You can find our request form for molecular genetic diagnostics here.

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