Purpose: This study aimed to analyze the inheritance pattern of
infantile #esotropia and to investigate the possible involvement of AHI1
gene.
Methods: The experimental group consisted of 14 neurologically
normal patients with onset of large angle esotropia prior to 6 months
of age. Three unaffected subjects from a family of twins with esotropia
formed the familial control group. The main control group consisted of
11 organ donors with no history of #strabismus. Familial pedigree charts
allowed assessing transmission of strabismus phenotype up to four
generations. Genomic DNA was obtained from #peripheralblood and PCR
amplification of AHI1 gene was performed.
Results: The mean onset of esotropia was 1.78±2.32 months and
the mean deviation was 57±8.5 prims diopters. Amplification of AHI1
was observed in all patients in the control group, but not in those with
infantile esotropia. Among the patients evaluated, 57% had a family
history of strabismus. Genetic inheritance was observed in two families
with #monozygotic twins, one of them consisted of monozygotic twins
with infantile esotropia and a third #dizygotic twin without strabismus.
AHI1 did not amplify in the 3 unaffected subjects from the triplets’
family
that formed the familial control group.
#Genetic Inheritance in Non-#Syndromic Infantile Esotropia by Dayane C Issaho in BJSTR
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