Ophthalmological features associated with COL4A1 mutations.
OBJECTIVE
To investigate the wide variability of ocular manifestations associated with mutations in the COL4A1 gene that encodes collagen IValpha1.


METHODS
We clinically evaluated 7 patients from 2 unrelated families in whom ocular features segregated with COL4A1 mutations that were identified by direct sequencing.


RESULTS
The G2159A transition (c.2159G>A) that leads to the missense mutation p.Gly720Asp was identified in family A. An ocular phenotype of variable severity was observed in all affected relatives. The missense mutation c.2263G>A, p.Gly755Arg was identified in family B. One patient from family B also displayed notable ocular features.


CONCLUSIONS
The COL4A1 mutations may be associated with various ophthalmologic developmental anomalies of anterior segment dysgenesis type, which are reminiscent of Axenfeld-Rieger anomalies (ARA). Cerebrovascular disorders should be added to the list of signs potentially associated with ARA.


CONCLUSIONS
These data suggest that cerebral magnetic resonance imaging may be recommended in the clinical treatment of patients with apparently isolated ARA, even when neurological symptoms or signs are lacking.
Coupry
Isabelle
I
Laboratoire de Génétique Humaine, Université Victor Segalen Bordeaux 2, Université Bordeaux 2, Bordeaux, France.
Sibon
Igor
I
Mortemousque
Bruno
B
Rouanet
François
F
Mine
Manuele
M
Goizet
Cyril
C
D000328:Adult; D000869:Anterior Eye Segment / Q000002:abnormalities*; D002552:Cerebral Ventricles / Q000473:pathology; D002648:Child; D024141:Collagen Type IV / Q000235:genetics*; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype
C547475:COL4A1 protein, human; D024141:Collagen Type IV