Table 2.

Recommended Evaluations Following Initial Diagnosis in Individuals with BPES

System/ConcernEvaluationComment
Eyelid
malformation 		Exam by
ophthalmologist
& oculoplastic
surgeon		Assess for size of palpebral apertures, lacrimal duct abnormality, & eyelid elevation.
Vision Assess for visual acuity, refractive error, extraocular movement, & amblyopia.
POI Eval by pediatrician
or endocrinologist/
gynecologist
  • For females w/BPES during late childhood or early puberty to assess gonadal function & assess/discuss onset & course of POI
Genetic
counseling 		By genetics
professionals 1
  • To inform affected persons & their families re nature, MOI, & implications of BPES to facilitate medical & personal decision making
  • In females w/BPES, family history can indicate type of BPES (type I inferred by assoc w/subfertility or infertility).

MOI = mode of inheritance; POI = primary ovarian insufficiency

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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