Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 (FOXL2) gene. It shows autosomal dominant inheritance but can also occur sporadically. Depending on the mutation, two phenotypic subtypes have been described, both involving the same craniofacial features: type I, which is associated with premature ovarian failure (POF), and type II, which has no systemic features. The genotype–phenotype correlation is not fully understood, but it has been hypothesised that type I BPES involves more severe loss of function variants spanning the whole gene. Type II BPES has been linked to frameshift mutations that result in elongation of the protein rather than complete loss of function. A mutational hotspot has been identified within the poly-alanine domain, although the exact function of this region is still unknown. However, the BPES subtype cannot be determined genetically, necessitating informed genetic counselling and careful discussion of family planning advice in view of the associated POF particularly as the patient may still be a child. Following puberty, female patients should be referred for ovarian reserve and response assessment. Oculofacial features can be managed with surgical intervention and regular monitoring to prevent amblyopia.

The Czech and Slovak Ophthalmology journal is the official journal of the Czech Ophthalmological Society and the Slovak Ophthalmological Society with a long tradition of 73 years. The journal consists of original papers, research results, summary papers, case studies, retraining chapters, articles for practice, news from congresses and symposia, and book reviews. It provides information on new diagnostic methods in ocular diseases and their conservative and surgical treatment. The journal is an integral part of the library of all physicians in the field and a tool for postgraduate education. Since 2009, the Czech and Slovak Ophthalmology journal has been a peer-reviewed, non-impacted journal.