Bilateral Clinical Anophthalmos.ppt

Bilateral Clinical Anophthalmos Caleb Sawyer, MD Resident Jorge Corona, MD Faculty Advisor Case Presentation 4 y/o Hispanic female with bilateral clinical anophthalmos Profound developmental delay Otherwise healthy Fitted with conformers 3 times since birth Definitions Anophthalmia = complete absence of an eye Clinical anophthalmia = small cystic remnant of globe is seen on pathologic examination Microphthalmos = grossly visible, but small malformed globe Pathophysiology Anophthalmia: Neuroectoderm of the primary optic vesicle fails to develop properly from the anterior neural plate of the neural tube during week 1-4 of embryological development. Microphthalmia: development problem with optic vesicle in week 4 or later Morbidity Outgrowth of the globe drives growth and development of the bony orbit . Prevents fitting of prosthesis Unilateral anophthalmos ? hemifacial hypoplasia Bilateral anophthalmos ? central hypoplasia Associated Ocular Findings Orbital findings Small orbital rim and entrance Reduced size of bony orbital cavity Extraocular muscles usually absent Lacrimal gland may be absent Small and maldeveloped optic foramen Eyelid findings Foreshortening of the lids in all directions Absent or decreased levator function with decreased lid folds Contraction of orbicularis oculi muscle Shallow conjunctival fornix, especially inferiorly Rare Condition U.S. congenital anophthalmos prevalence rate of 3 per 100,000. Spanish Study of 1.1 million births: 36/100,000 with eye malformations 23/100,000 with anophthalmia/microphthalmia No racial predilection No sex predilection Causes Idiopathic/sporadic Inherited as dominant, recessive, or sex-linked Chromosome deletion in band 14q22-23 with associated polydactyly Trisomy 13-15 Maternal infections or teratogenic exposure 75% associated with syndromes Role of head/orbit CT or MRI Look for extremely microphthalmic globe Bilateral anophthalmos associated absence of the optic chiasm dysgenesis of the corpus