OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome

Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is an obsolete Orphanet entry (Orphanet code 261572) that was previously used to classify cases of Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) specifically caused by point mutations in the FOXL2 gene. This designation is no longer actively used as a separate entity; instead, all cases of BPES caused by FOXL2 mutations — whether point mutations, deletions, or other genomic rearrangements — are now classified under the broader BPES syndrome (Orphanet code 126). BPES is a rare developmental condition primarily affecting the eyes and, in some cases, the reproductive system. The hallmark features include blepharophimosis (narrowing of the horizontal eyelid opening), ptosis (drooping of the upper eyelids), epicanthus inversus (skin folds arising from the lower eyelids), and telecanthus (increased distance between the inner corners of the eyes). BPES is divided into two types: Type I, which includes premature ovarian insufficiency in females leading to potential infertility, and Type II, which involves only the eyelid abnormalities without ovarian dysfunction. The condition is inherited in an autosomal dominant manner, with mutations in the FOXL2 gene on chromosome 3q22.3 being the primary cause. Treatment is primarily surgical, involving correction of the ptosis and blepharophimosis, typically performed in early childhood to prevent amblyopia (lazy eye) and to improve visual function and cosmetic appearance. Women with Type I BPES may require reproductive counseling and assisted reproductive technologies. Genetic counseling is recommended for affected families.

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