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Absent Eyeball

๐˜Š๐˜ฐ๐˜ฏ๐˜จ๐˜ฆ๐˜ฏ๐˜ช๐˜ต๐˜ข๐˜ญ ๐˜ˆ๐˜ฏ๐˜ฐ๐˜ฑ๐˜ฉ๐˜ต๐˜ฉ๐˜ข๐˜ญ๐˜ฎ๐˜ฐ๐˜ดโฃ โฃ It is the complete absence of the eye due to deficient formation of the optic vesicle during early phases of gestationโฃ โฃ โฃ0.2-0.6 per 10,000 birthsโฃ


Microphthalmia refers to the presence of a hypoplastic or rudimentary eye at birth โฃ


โฃ

๐˜™๐˜ช๐˜ด๐˜ฌ ๐˜ง๐˜ข๐˜ค๐˜ต๐˜ฐ๐˜ณ๐˜ด:โฃ โ— Maternal and gestational factorsโฃ โ— Genetic - SOX2 and RBP4 genesโฃ โ— Chromosomal abnormalities- eg. chromosome 14 deletion, Trisomy 13โฃ โ— Environmental -Infections such as rubella and toxoplasmaโฃ โ— Drug intake during gestation periodโฃ โฃ ๐˜๐˜ฆ๐˜ข๐˜ต๐˜ถ๐˜ณ๐˜ฆ๐˜ด: โฃ ๐—ข๐—ฟ๐—ฏ๐—ถ๐˜๐—ฎ๐—น ๐—™๐—ฒ๐—ฎ๐˜๐˜‚๐—ฟ๐—ฒ๐˜€:โฃ โ— Absence of a normal sized globe - orbital cavity and soft tissue growth retardationโฃ โ— Bony orbital hyoplasiaโฃ โ— Small orbital rim and entranceโฃ โ— Extraocular muscles are absentโฃ โ— Lacrimal gland may not be presentโฃ โ— Small and maldeveloped optic foramenโฃ โฃ ๐—˜๐˜†๐—ฒ๐—น๐—ถ๐—ฑ ๐—ณ๐—ถ๐—ป๐—ฑ๐—ถ๐—ป๐—ด๐˜€:โฃ โ— Foreshortening of lids in all directionsโฃ โ— Microblepharonโฃ โ— Absent or decreased levator function with decreased lid foldsโฃ โ— Reduced palpebral fissureโฃ โ— Contraction of orbicularis oculiโฃ โ— Conjunctival fornix shorteningโฃ โฃ ๐—™๐—ฎ๐—ฐ๐—ถ๐—ฎ๐—น ๐—ณ๐—ฒ๐—ฎ๐˜๐˜‚๐—ฟ๐—ฒ๐˜€:โฃ โ— Hemifacial microsomia affecting the development of the maxilla, maxillary sinus, and mandibleโฃ โ— Malar prominenceโฃ โ— Facial asymmetry due to hemifacial microsomiaโฃ โ— Bilateral cases- sunken orbits and midfacial hypoplasiaโฃ โฃ ๐˜Š๐˜ฐ๐˜ฏ๐˜ฅ๐˜ช๐˜ต๐˜ช๐˜ฐ๐˜ฏ๐˜ด ๐˜ข๐˜ด๐˜ด๐˜ฐ๐˜ค๐˜ช๐˜ข๐˜ต๐˜ฆ๐˜ฅ ๐˜ธ๐˜ช๐˜ต๐˜ฉ ๐˜ข๐˜ฏ๐˜ฐ๐˜ฑ๐˜ฉ๐˜ต๐˜ฉ๐˜ข๐˜ญ๐˜ฎ๐˜ช๐˜ข:โฃ โ— Trisomy 13โฃ โ— Goldenhar-Gorlin Syndromeโฃ โ— Waardenburg Syndromeโฃ โ— Lenz Syndromeโฃ โฃ ๐˜‹๐˜ช๐˜ข๐˜จ๐˜ฏ๐˜ฐ๐˜ด๐˜ช๐˜ด:โฃ โ— Clinical evaluation โฃ โ— Ocular Ultrasoundโฃ โ— Systemic imaging - computed tomography [CT], and magnetic resonance imaging [MRI]โฃ should be performed to rule out neurological, renal, cardiac, or other associations โฃ โฃ ๐˜›๐˜ณ๐˜ฆ๐˜ข๐˜ต๐˜ฎ๐˜ฆ๐˜ฏ๐˜ตโฃ โฃ The ideal treatment is simultaneous expansion of the eyelids, socket and orbital bones, and it should begin after birth as soon as possible.โฃ โฃ Early orbital rehabilitation with artificial stimulation of orbitofacial growth โฃ Socket expansion with self-inflating expanders/ custom made conformers Dermis-fat grafts as orbital implantsโฃ

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