Subject(s)
Abducens Nerve/abnormalities , Chimerin 1/genetics , Duane Retraction Syndrome/genetics , Trochlear Nerve Diseases/congenital , Trochlear Nerve/abnormalities , Blepharoptosis/diagnosis , Blepharoptosis/genetics , Child, Preschool , DNA Mutational Analysis , Duane Retraction Syndrome/diagnosis , Exotropia/diagnosis , Exotropia/genetics , Humans , Magnetic Resonance Imaging , Male , Polymerase Chain Reaction , Trochlear Nerve Diseases/diagnosis , Trochlear Nerve Diseases/geneticsABSTRACT
To identify ARIX gene and PHOX2B gene polymorphisms in patients with congenital superior oblique muscle palsy, 3 exons of the ARIX gene and PHOX2B gene were sequenced by genomic DNA amplification with polymerase chain reaction (PCR) and direct sequencing in 31 patients with congenital superior oblique muscle palsy and in 54 normal individuals. A family with a father and one daughter each having congenital superior oblique muscle palsy was also included in this study. Eleven patients with congenital superior oblique muscle palsy had heterozygous nucleotide changes in the ARIX gene, including 4 patients reported on previously. One patient with atrophy of the superior oblique muscle had a new change of T-4G in the promoter region of the ARIX gene. The other 6 patients had a heterozygous nucleotide change of G153A in the 5'-untranslated region (UTR) of the exon 1 of the ARIX gene. These nucleotide changes of the ARIX gene, taken together, had a significant association with congenital superior oblique muscle palsy(P = 0.0022). One patient and 5 patients had heterozygous nucleotide changes of A1106 C and A1121 C in exon 3 of the PHOX2B gene, respectively, while these changes were absent in the normal individuals. Two patients had both the G153A change in the 5'-UTR of exon 1 of the ARIX gene and the A1121 C change in exon 3 of the PHOX2B gene. In conclusion, the polymorphisms of the ARIX gene and PHOX2B gene may be genetic risk factors for the development of congenital superior oblique muscle palsy.
Subject(s)
Homeodomain Proteins/genetics , Polymorphism, Genetic , Transcription Factors/genetics , Trochlear Nerve Diseases/genetics , Adult , Child , Child, Preschool , Female , Genetic Predisposition to Disease/epidemiology , Humans , Infant , Infant, Newborn , Male , Risk Factors , Trochlear Nerve Diseases/congenital , Trochlear Nerve Diseases/epidemiologyABSTRACT
BACKGROUND: Congenital superior oblique palsy is usually associated with a structural abnormality of the superior oblique tendon. There have been many reports of familial congenital superior oblique palsy. However, there has been no MRI documentation of familial superior oblique hypoplasia. METHODS: Ophthalmological examination and orbital MRI were performed in three patients in a pedigree with familial superior oblique palsy. They showed typical signs of superior oblique palsy, including superior oblique underaction and overelevation in adduction on the affected side, torticollis in the early part of life, and positive head tilt testing. RESULTS: Moderate to severe superior oblique hypoplasia was identified in all three affected family members. CONCLUSION: Superior oblique hypoplasia confirmed with MRI was useful for clarifying the aetiology of familial superior oblique palsy.