Abstract ID: 26-180
Bilateral Cryptophthalmos with Spontaneous Eyelid Separation and Unilateral Cataract in a Preterm Neonate
Author: Carina Luxhoj Base Hospital / Institution: The Western Eye Hospital/Imperial College Healthcare NHS Trust
Presentation Type: ePoster Presentation
Purpose
Cryptophthalmos is a rare congenital eyelid malformation characterised by failure of eyelid development, resulting in skin continuity over the ocular surface. It is typically managed surgically and spontaneous eyelid separation has not been reported. We present a preterm neonate with bilateral cryptophthalmos demonstrating spontaneous eyelid separation.
Methods
Case report of a preterm neonate (30+6 weeks) delivered via emergency caesarean section after a pathological finding on cardiotocography.
Results
Bilateral fused eyelids were identified at day 2 of life with no other immediate systemic concerns. A previous sibling however had a similar presentation and died in the neonatal period without a confirmed syndromic diagnosis.Examination of the patient demonstrated bilateral complete cryptophthalmos with no visible ocular surface, subtle medial indentation and absence of eyelashes. Differentiation between cryptophthalmos and severe ankyloblepharon was considered. Globes were palpable bilaterally, and the infant responded to light with parents noticing tearing. Orbital MRI demonstrated a structurally preserved right globe and a possible left-sided cataract, with eyelids separate from the globes supporting the diagnosis and a conservative approach. Planned surgical division of the lids however was delayed due to concurrent infection.Spontaneous separation of the eyelids occurred at 37 weeks corrected gestational age, revealing formed globes. A nuclear factor-kappa B essential modulator (NEMO) immunodeficiency syndrome with (IKBKG) mutation was also identified. Multidisciplinary follow-up is ongoing and the child is awaiting further treatment including bone marrow transplant as treatment for NEMO.
Conclusion
This case suggests that, in selected cases of cryptophthalmos, early orbital imaging can demonstrate globe preservation and support a period of observation, potentially avoiding surgery. Careful monitoring is essential to minimize amblyopia risk. Multidisciplinary management remains essential, particularly in the context of underlying genetic abnormalities.
Additional Authors
| First name | Last name | Base Hospital / Institution |
|---|---|---|
| John | Vekinis | |
| Mohammud | Musleh | |
| Anshul | Radotra | |
| Ahmad | Aziz |