PURPOSE: To describe the ophthalmologic findings and electroretinograms in @entity1 with @entity4242 and @entity528 . METHODS: We reviewed the hospital records of 20 @entity1 with @entity4242 that was not part of a recognizable syndrome prior to initial referral to the institutional consultative practice of one of the authors (RGW). Twelve @entity1 , all from separate families, were diagnosed as having @entity4242 with @entity989 . Ten of these @entity1 had ISCEV-standard electroretinograms (ERG). RESULTS: No family history of @entity4242 or @entity2000 was found in any of our @entity1 . Three @entity1 had another family member with @entity1032 . Three of the 12 were compatible with the autosomal dominant form of @entity4242 with @entity989 (MIM 156590), possibly as a new mutation. Eight @entity1 , who had fundus findings of @entity6391 , were similar to the autosomal recessive form of @entity4242 with @entity528 (MIM 251270). The ERGs were moderately to severely subnormal for responses of both rods and cones. The retinal findings varied from no pigmentary changes, pigment clumping and bone spicules, pigmentary granularity, bull's eye @entity1020 , @entity989 , to @entity8987 . @entity1032 was mild to profound. The abnormal findings from MRI/ CT brain scans (8 @entity1 ) were @entity76 (2), agenesis of @entity76 (1), @entity194 (1), and @entity12199 (1). @entity154 were present in most @entity1 . Chromosome studies were normal, except for one @entity1 with @entity3521 chromosome 14. CONCLUSIONS: Although the @entity1 reviewed in this study represent a heterogeneous group of disorders, @entity735 , especially @entity2000 , are frequent among @entity1 with @entity4242 .

@entity4242 with XXXX .

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity154 :: ('MESH:D000013', 'Disease') :: ['Dysmorphic features'] @entity2000 :: ('MESH:D012162', 'Disease') :: ['retinal degeneration'] @entity1032 :: ('MESH:D008607', 'Disease') :: ['Mental retardation', 'mental retardation'] @entity8987 :: ('MESH:D059409', 'Disease') :: ['lacunar depigmentation'] @entity4242 :: ('MESH:D008831', 'Disease') :: ['microcephaly'] @entity6391 :: ('MESH:D012174', 'Disease') :: ['retinitis pigmentosa'] @entity12199 :: ('MESH:D054082', 'Disease') :: ['pachygyria'] @entity735 :: ('MESH:D005124', 'Disease') :: ['ocular abnormalities'] @entity3521 :: ('MESH:D012303', 'Disease') :: ['ring'] @entity194 :: ('MESH:D001284', 'Disease') :: ['cortical atrophy'] @entity76 :: ('MESH:D002526', 'Disease') :: ['cerebellar atrophy', 'cerebellar vermis'] @entity989 :: ('MESH:D012164', 'Disease') :: ['choroidal and retinal atrophy', 'chorioretinopathy'] @entity1020 :: ('MESH:D008268', 'Disease') :: ['maculopathy'] @entity528 :: ('MESH:D009410', 'Disease') :: ['chorioretinal degeneration']
@entity528 :: (MESH:D009410,Disease) :: ['chorioretinal degeneration']
