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
Image from Rajan Eye Care Hospital
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