BACKGROUND: In a family @entity231 , @entity5971 and @entity2070 is dominantly transmitted. @entity1 AND METHOD: Besides the physical examination visual evoked potentials and @entity6484 mutation analysis were performed on five of six affected @entity1 and on two who were not. RESULTS: A @entity1 of the first generation, deceased before this study, was known to have @entity4064 . His two daughters and their @entity1 and grandchildren suffer from @entity231 , @entity5971 and @entity2070 . In two cases accompanied by @entity6716 and atypical @entity1539 respectively. The best visual acuity is 0.5. The VEPs taken of three of the affected @entity1 were normal. The @entity6484 mutation analysis demonstrated a T to A translocation in the Intron 8 at the position + 2 (= @entity70499 ). CONCLUSION: 1) This study confirms that @entity2070 in the so-called isolated form have a similar origin as in @entity6716 namely @entity6484 mutation and that it is a symptom in all cases while the @entity1539 may be variable. 2) In contrast to this @entity2070 in @entity4068 may occur variably in a family while the asymmetry of VEP is a constant finding. 3) Therefore the VEP alone is helpful to differentiate clinically wether a @entity2070 belongs to the albino or to the @entity6716 group.

[ XXXX - clinical differentiation].

@entity1 :: ('9606', 'Species') :: ['children', 'PATIENTS', 'man', 'people', 'persons'] @entity1539 :: ('MESH:D007499', 'Disease') :: ['iris coloboma', 'iris anomaly'] @entity231 :: ('MESH:D002386', 'Disease') :: ['cataract'] @entity70499 :: ('c|SUB|T|IVS8+2|A', 'DNAMutation') :: ['IVS8 + 2T --> A'] @entity5971 :: ('MESH:D004948', 'Disease') :: ['esotropia'] @entity6716 :: ('MESH:D015783', 'Disease') :: ['aniridia'] @entity2070 :: ('MESH:C537858', 'Disease') :: ['foveal hypoplasia'] @entity6484 :: ('5080', 'Gene') :: ['PAX6'] @entity4064 :: ('MESH:D015354', 'Disease') :: ['low vision'] @entity4068 :: ('MESH:D000417', 'Disease') :: ['albinism']
@entity2070 :: (MESH:C537858,Disease) :: ['Hereditary foveal hypoplasia']
