Hereditary syndrome affecting the eyelids, with the
clinical symptom triad of blepharophimosis, ptosis, and epicanthus inversus
(fold curving in the mediolateral direction inferior to the inner canthus).
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 (BPES I)/without (BPES II)
Rare syndrome with unknown incidence.
Autosomal dominant transmitted 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 types of
the syndrome exist: Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES)
type I with infertility in affected females is
transmitted by affected males to their offspring, and BPES type II with normal fertility is 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. Infertility seems to be associated with a nonsense mutation of the gene encoding a Forkhead
transcription factor, Forkhead L2 (FOXL2), which seems to be involved in ovarian follicle stiumulation
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 3q22.3-23.
Made by clinical picture and family history.
Literally, blepharophimosis means narrowing of
the eyelid. In BPES, the horizontal palpebral aperture is reduced and
associated with eyelid dysplasia, ptosis, telecanthus, and epicanthus
inversus. Affected females with BPES type I have a small uterus with primary
amenorrhea, infertility, and primary ovarian failure as a result of
hypoplastic ovaries. Breast development is normal, pubic and axillary hair
is scant but normal in distribution. Gonadotropin levels are elevated,
estrogen and progesterone levels decreased. A low nasal bridge may be an
additional finding and mental retardation may occur, especially in sporadic
No specific anesthetic precautions
are required because there is no evident impairment of general health in
BPES. However, older female patients with BPES type I may have premature
osteoporosis and require caution with positioning.
Considerations are not different from
healthy patients undergoing the same procedure. Especially in younger
patients undergoing ophthalmic examination under general anesthesia,
oculocardiac reflex with profound bradycardia should be expected. The
treatment is twofold and includes first stopping the stimulation and second,
if still necessary, anticholinergic drugs.
No known pharmacological
syndromes including the following:
Acro-Fronto-Facio-Nasal Dysostosis Syndrome (Type I and II): Frontonasal dysostosis, retarded growth, and mental development.
Brachycephaly, broad notched nasal tip, and cleft lip/palate and
macrostomia. Polysyndactyly, camptodactyly, and hypoplasia of the distal
phalanges of the hands. Iliac hypoplasia, short legs and hypospadias.