[Genetic and clinical heterogeneity in LCA patients. The end of uniformity].
BACKGROUND
Leber congenital amaurosis (LCA) usually describes patients with severely reduced vision due to a retinal dystrophy in early childhood.


METHODS
In 135 families in a case series with severely reduced vision due to a retinal dystrophy in early childhood a complete ophthalmologic examination was extended by two-color threshold perimetry, fundus autofluorescence (FAF), und optical coherence tomography (OCT). Mutation screening included AIPL1, CRB1, CRX, GUCY2D, LRAT, RPE65, RPGRIP, and TULP1.


RESULTS
GUCY2D mutations caused the most severe phenotype with severely reduced vision from birth but unremarkable fundus appearance. RPE65 mutations were correlated with an obvious lack of FAF. CRB1 mutations showed a significantly thickened retina on OCT. CRX mutations were associated with a progressive form of cone-rod dystrophy.


CONCLUSIONS
A genotype-phenotype correlation for selected genes allows an optimized strategy for the molecular genetic work-up.
Preising
M N
MN
Abt. für Kinderophthalmologie, Strabismologie und Ophthalmogenetik, Klinikum der Universität Regensburg, 93042, Regensburg.
Paunescu
K
K
Friedburg
C
C
Lorenz
B
B
D000293:Adolescent; D000328:Adult; D000368:Aged; D001766:Blindness / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003119:Color Perception Tests; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D041623:Tomography, Optical Coherence; D058609:Visual Field Tests
D005136:Eye Proteins