BACKGROUND: Inherited @entity1105 are the major causes of @entity1939 and @entity227 . @entity227 is due to neurosensory retinal and pigment epithelium cells degeneration. The most severe were @entity26000 ( @entity26000 ), juvenile @entity6391 ( @entity6391 ) and early onset @entity6391 . The @entity26000 and juvenile @entity6391 are called   Early Onset @entity1105   (EORD). OBJECTIVE: Molecular exploration of the @entity46262 ( @entity31923 gene) in Tunisian @entity1 with Early Onset @entity1105 and early onset @entity6391 . METHODS: All @entity1 underwent a complete ophthalmological and a general examinations. The @entity46262 exploration was performed by direct sequencing of exon 4 of the @entity31923 gene and enzyme digestion. RESULTS: Among 47 @entity1 , 13 were from Nabeul. Twenty three had an EROD with a @entity227 under the age of 2 years. Twenty four were with early onset @entity6391 and had these symptoms between the ages of 4 and 10 years. The best corrected visual acuity ranged from 2/10 to 1/60. Among the explored 94 chromosomes, the @entity46262 ( @entity69977 ) allele was identified in heterozygous state in a sibling from Nabeul. The allele frequency was 2.12% (2/94). CONCLUSION: All our @entity1 had severe forms of @entity6391 with a @entity227 and a wide advanced @entity2000 . The @entity46262 mutation ( @entity69977 ) was not the major cause of EORD and early onset @entity6391 among Tunisian @entity1 .

Molecular exploration of the XXXX ( @entity31923 gene) in Tunisian @entity1 with early onset @entity1105 and early onset retinis pigmentosa.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity227 :: ('MESH:D014786', 'Disease') :: ['Visual loss', 'visual loss', 'decrease in visual acuity', 'visual impairment'] @entity2000 :: ('MESH:D012162', 'Disease') :: ['retinal degeneration'] @entity69977 :: ('c|SUB|C|325|T', 'DNAMutation') :: ['325C>T'] @entity31923 :: ('6121', 'Gene') :: ['RPE65'] @entity1105 :: ('MESH:D058499', 'Disease') :: ['retinal dystrophies', 'Retinal Dystrophy'] @entity6391 :: ('MESH:D012174', 'Disease') :: ['retinitis pigmentosa', 'RP'] @entity1939 :: ('MESH:D001766', 'Disease') :: ['blindness'] @entity26000 :: ('MESH:D057130', 'Disease') :: ['LCA', 'Leber Congenital amaurosis'] @entity46262 :: ('p|SUB|R|91|W', 'ProteinMutation') :: ['R91W']
@entity46262 :: (p|SUB|R|91|W,ProteinMutation) :: ['R91W']
