Blepharophimosis, ptosis, epicanthus inversus, telecanthus, amblyopia, and menstrual abnormality in sisters.
Two sisters with blepharophimosis, ptosis, epicanthus inversus, and telecanthus were examined. Both patients also had amblyopia in the right eye and menstrual abnormalities associated with elevated serum luteinizing hormone and follicle-stimulating hormone. The patients' father was suspected of having blepharophimosis and ptosis. It is possible that the blepharophimosis syndrome observed in this family is of autosomal dominant inheritance. We believe that this condition of blepharophimosis, ptosis, epicanthus inversus, telecanthus, amblyopia, and menstrual abnormality found in our patients may be rare, and that the menstrual abnormality in these patients may be associated with ovarial failure.
Amano
T
T
Department of Ophthalmology, Shimane Medical University, Japan.
Shibuya
Y
Y
Hayasaka
S
S
D000328:Adult; D000550:Amblyopia / Q000097:blood / Q000235:genetics*; D016569:Blepharophimosis / Q000097:blood / Q000235:genetics*; D001763:Blepharoptosis / Q000097:blood / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D008599:Menstruation Disturbances / Q000097:blood / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone