Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

At a glance

A hereditary syndrome affecting the eyelids, with the clinical triad of blepharophimosis, ptosis, and epicanthus inversus (a skin fold curving in the mediolateral direction inferior to the inner canthus).

Synonyms

Hereditary Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome; Blepharophimosis Sequence; Blepharophimosis Syndrome; Blepharophimosis-Ptosis-Epicanthus Inversus-Primary Amenorrhea Syndrome; Blepharophimosis-Ptosis-Epicanthus Inversus-Telecanthus Complex; Blepharoptosis-Blepharophimosis-Epicanthus Inversus-Telecanthus Syndrome; Blepharophimosis-Ptosis-Epicanthus Syndrome with Ovarian Failure (BPES Type I); Blepharophimosis-Ptosis-Epicanthus Syndrome without Ovarian Failure (BPES Type II); BPES Type 1; BPES Types 2

Incidence

Rare syndrome with unknown incidence.

Genetic inheritance

Autosomal dominant inherited disorder, but 50% of cases occur without a family history. In sporadic cases, there seems to be an apparent maternal (but not paternal) age effect. Two distinct types of the syndrome exist: the more common Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES) Type I with infertility in affected females, thus transmitted only by affected males to their offsprings, and BPES Type II with normal fertility and transmitted by females and males. Female infertility in BPES Type I is a predominant symptom and the distinction between the two types is important for genetic counseling. Infertility is inherited as an autosomal dominant, sex-limited trait, and associated with a nonsense mutation of the gene encoding a Forkhead transcription factor, FOXL2 (Forkhead L2). FOXL2 seems to be involved in stimulation of ovarian follicles and steroid biosynthesis. The two entities are further differentiated by incomplete penetrance in BPES Type II only, and by difference in the sex ratios of affected children. The gene locus has been mapped to chromosome 3q22.3-23.

Diagnosis

Based on the clinical picture and family history. BPES needs to be distinguished from the group of diseases now known as “Blepharophimosis Mental Retardation Syndromes” (see Ohdo-Madokoro-Sonoda Syndrome in “Other conditions to be considered”).

Clinical aspects

Blepharophimosis refers to narrowing of the eyelid. In BPES, the horizontal aperture of the palpebral fissure is reduced and associated with eyelid dysplasia, ptosis, telecanthus, and epicanthus inversus. Affected females with BPES Type I have primary ovarian failure due to hypoplastic ovaries with primary amenorrhea, infertility a hypoplastic uterus. Breast development is normal and pubic and axillary hair is scant, but of normal female distribution. The gonadotropin levels are elevated, while estrogen and progesterone concentrations are decreased. Low nasal bridge and mental retardation (mainly in sporadic cases) with mild to moderate speech abnormalities have occasionally been noted.

Precautions before anesthesia

Routine preoperative assessment. Developmental delay may cause agitation and stress in the perioperative period; thus, anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial.

Anesthetic considerations

Not different from healthy patients undergoing the same procedure. However, older female ...