Premature ovarian insufficiency occurs in 1 in 250 women by the age of 35 years. Exposition to radiation, certain medications, and genetic predispositions are the most common causes. In addition to the relatively common Turner syndrome or Fragile X premutation carriage, it can also be caused by less well-known defects, such as the very rare blepharophimosis, ptosis, epicanthus inversus syndrome. Type 1 of this syndrome is characterized by specific phenotypic traits, perimenopausal symptoms and infertility due to premature ovarian insufficiency. A 23 year-old patient presented to the Department with oligomenorrhoea and primary infertility. Gynaecological examination did not reveal any abnormalities, but dysmorphic features, such as narrowing of horizontal aperture of the eyelids, ptosis, a skin fold arising from the lower eyelid and telecanthus, were noted. In family history, a similar phenotype was present in patients’ grandfather, father and three of four brothers. Hormonal blood tests revealed very low levels of anti-mullerian hormone (0.65 ng/mL), indicating diminished ovarian reserve. Due to the risk of premature ovarian insufficiency, the patient underwent molecular testing, which revealed a pathogenic FOXL2 allele, which confirmed the diagnosis of blepharophimosis, ptosis, epicanthus inversus syndrome. The woman was referred for a consultation at an infertility treatment centre, where she was qualified for an in vitro fertilization with a donor egg. Premature ovarian insufficiency becomes a serious problem, especially for women planning pregnancy. Detailed diagnosis and taking into account also less common causes of premature ovarian insufficiency remain important domains for practitioners of all specialties. Advances in assisted reproductive technology techniques enable maternity not only for women facing infertility, but also for those with a genetic burden.