Absent Eyeball
๐๐ฐ๐ฏ๐จ๐ฆ๐ฏ๐ช๐ต๐ข๐ญ ๐๐ฏ๐ฐ๐ฑ๐ฉ๐ต๐ฉ๐ข๐ญ๐ฎ๐ฐ๐ดโฃ โฃ
It is the complete absence of the eye due to deficient formation of the optic vesicle during early phases of gestationโฃ โฃ โฃ0.2-0.6 per 10,000 birthsโฃ
Microphthalmia refers to the presence of a hypoplastic or rudimentary eye at birth โฃ
๐๐ช๐ด๐ฌ ๐ง๐ข๐ค๐ต๐ฐ๐ณ๐ด:โฃ
โ Maternal and gestational factorsโฃ
โ Genetic - SOX2 and RBP4 genesโฃ
โ Chromosomal abnormalities- eg. chromosome 14 deletion, Trisomy 13โฃ
โ Environmental -Infections such as rubella and toxoplasmaโฃ โ Drug intake during gestation periodโฃ โฃ
๐๐ฆ๐ข๐ต๐ถ๐ณ๐ฆ๐ด: โฃ
๐ข๐ฟ๐ฏ๐ถ๐๐ฎ๐น ๐๐ฒ๐ฎ๐๐๐ฟ๐ฒ๐:โฃ
โ Absence of a normal-sized globe - orbital cavity and soft tissue growth retardationโฃ
โ Bony orbital hyoplasiaโฃ
โ Small orbital rim and entranceโฃ
โ Extraocular muscles are absentโฃ
โ Lacrimal gland may not be presentโฃ
โ Small and maldeveloped optic foramenโฃ โฃ
๐๐๐ฒ๐น๐ถ๐ฑ ๐ณ๐ถ๐ป๐ฑ๐ถ๐ป๐ด๐:โฃ
โ Foreshortening of lids in all directionsโฃ
โ Microblepharonโฃ
โ Absent or decreased levator function with decreased lid foldsโฃ
โ Reduced palpebral fissureโฃ
โ Contraction of orbicularis oculiโฃ
โ Conjunctival fornix shorteningโฃ โฃ
๐๐ฎ๐ฐ๐ถ๐ฎ๐น ๐ณ๐ฒ๐ฎ๐๐๐ฟ๐ฒ๐:โฃ
โ Hemifacial microsomia affecting the development of the maxilla, maxillary sinus, and mandibleโฃ
โ Malar prominenceโฃ
โ Facial asymmetry due to hemifacial microsomiaโฃ
โ Bilateral cases- sunken orbits and midfacial hypoplasiaโฃ โฃ ๐๐ฐ๐ฏ๐ฅ๐ช๐ต๐ช๐ฐ๐ฏ๐ด ๐ข๐ด๐ด๐ฐ๐ค๐ช๐ข๐ต๐ฆ๐ฅ ๐ธ๐ช๐ต๐ฉ ๐ข๐ฏ๐ฐ๐ฑ๐ฉ๐ต๐ฉ๐ข๐ญ๐ฎ๐ช๐ข:โฃ
โ Trisomy 13โฃ
โ Goldenhar-Gorlin Syndromeโฃ
โ Waardenburg Syndromeโฃ
โ Lenz Syndromeโฃ โฃ
๐๐ช๐ข๐จ๐ฏ๐ฐ๐ด๐ช๐ด:โฃ
โ Clinical evaluation โฃ
โ Ocular Ultrasoundโฃ
โ Systemic imaging - computed tomography [CT], and magnetic resonance imaging [MRI]โฃ should be performed to rule out neurological, renal, cardiac, or other associations โฃ โฃ
๐๐ณ๐ฆ๐ข๐ต๐ฎ๐ฆ๐ฏ๐ตโฃ โฃ
The ideal treatment is simultaneous expansion of the eyelids, socket and orbital bones, and it should begin after birth as soon as possible.โฃ โฃ
Early orbital rehabilitation with artificial stimulation of orbitofacial growth โฃ
Socket expansion with self-inflating expanders/ custom made conformers
Dermis-fat grafts as orbital implantsโฃ
Image from Rajan Eye Care Hospital
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