Medical Genetics in Ophthalmology: Through the Lens of Genetics-Informed Therapies OnDemand-Ptosis or Blepharophimosis, Anophthalmia vs. Microphthalmia: Why It Matters?

Ptosis or Blepharophimosis, Anophthalmia vs. Microphthalmia: Why It Matters?

Video Transcription

Video Summary

Anne Stavotnik, a geneticist and clinician from Cincinnati, discusses the importance of precise terminology in eye disorders, particularly in children with blindness or severe visual impairment (BLSVI), which affects millions globally. She explains eye development starting early in pregnancy and highlights key conditions: ptosis (drooping eyelid), blepharophthalmosis (reduced eyelid opening), and the MAC spectrum (microphthalmia, anophthalmia, coloboma). Stavotnik emphasizes genetic factors behind these conditions, mentioning syndromes like BPES and MOTOR, and the need for broad genetic testing. She also covers cataracts, their types, causes, and their critical impact on vision if untreated. Retinal dystrophies such as Leber’s congenital amaurosis and congenital stationary night blindness are mentioned for their genetic heterogeneity and variable progression. Lastly, she discusses optic nerve abnormalities, including hyperplasia and atrophy, noting genetic and environmental causes and potential treatments. Accurate diagnosis aids targeted management and genetic counseling.

Asset Subtitle

Anne L. Slavotinek, MBBS, PhD, FACMG

Keywords

eye disorders

genetic testing

visual impairment

retinal dystrophies

optic nerve abnormalities