Absent Eyeball

𝘊𝘰𝘯𝘨𝘦𝘯𝘪𝘵𝘢𝘭 𝘈𝘯𝘰𝘱𝘩𝘵𝘩𝘢𝘭𝘮𝘰𝘴⁣ ⁣ It is the complete absence of the eye due to deficient formation of the optic vesicle during early phases of gestation⁣ ⁣ ⁣0.2-0.6 per 10,000 births⁣


Microphthalmia refers to the presence of a hypoplastic or rudimentary eye at birth ⁣


𝘙𝘪𝘴𝘬 𝘧𝘢𝘤𝘵𝘰𝘳𝘴:⁣ ● Maternal and gestational factors⁣ ● Genetic - SOX2 and RBP4 genes⁣ ● Chromosomal abnormalities- eg. chromosome 14 deletion, Trisomy 13⁣ ● Environmental -Infections such as rubella and toxoplasma⁣ ● Drug intake during gestation period⁣ ⁣ 𝘍𝘦𝘢𝘵𝘶𝘳𝘦𝘴: ⁣ 𝗢𝗿𝗯𝗶𝘁𝗮𝗹 𝗙𝗲𝗮𝘁𝘂𝗿𝗲𝘀:⁣ ● Absence of a normal sized globe - orbital cavity and soft tissue growth retardation⁣ ● Bony orbital hyoplasia⁣ ● Small orbital rim and entrance⁣ ● Extraocular muscles are absent⁣ ● Lacrimal gland may not be present⁣ ● Small and maldeveloped optic foramen⁣ ⁣ 𝗘𝘆𝗲𝗹𝗶𝗱 𝗳𝗶𝗻𝗱𝗶𝗻𝗴𝘀:⁣ ● Foreshortening of lids in all directions⁣ ● Microblepharon⁣ ● Absent or decreased levator function with decreased lid folds⁣ ● Reduced palpebral fissure⁣ ● Contraction of orbicularis oculi⁣ ● Conjunctival fornix shortening⁣ ⁣ 𝗙𝗮𝗰𝗶𝗮𝗹 𝗳𝗲𝗮𝘁𝘂𝗿𝗲𝘀:⁣ ● Hemifacial microsomia affecting the development of the maxilla, maxillary sinus, and mandible⁣ ● Malar prominence⁣ ● Facial asymmetry due to hemifacial microsomia⁣ ● Bilateral cases- sunken orbits and midfacial hypoplasia⁣ ⁣ 𝘊𝘰𝘯𝘥𝘪𝘵𝘪𝘰𝘯𝘴 𝘢𝘴𝘴𝘰𝘤𝘪𝘢𝘵𝘦𝘥 𝘸𝘪𝘵𝘩 𝘢𝘯𝘰𝘱𝘩𝘵𝘩𝘢𝘭𝘮𝘪𝘢:⁣ ● Trisomy 13⁣ ● Goldenhar-Gorlin Syndrome⁣ ● Waardenburg Syndrome⁣ ● Lenz Syndrome⁣ ⁣ 𝘋𝘪𝘢𝘨𝘯𝘰𝘴𝘪𝘴:⁣ ● Clinical evaluation ⁣ ● Ocular Ultrasound⁣ ● Systemic imaging - computed tomography [CT], and magnetic resonance imaging [MRI]⁣ should be performed to rule out neurological, renal, cardiac, or other associations ⁣ ⁣ 𝘛𝘳𝘦𝘢𝘵𝘮𝘦𝘯𝘵⁣ ⁣ The ideal treatment is simultaneous expansion of the eyelids, socket and orbital bones, and it should begin after birth as soon as possible.⁣ ⁣ Early orbital rehabilitation with artificial stimulation of orbitofacial growth ⁣ Socket expansion with self-inflating expanders/ custom made conformers Dermis-fat grafts as orbital implants⁣

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