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Bilateral Microphthalmia with Septo-Optic Dysplasia.
Omar Solyman1, Mohammed Attya2, Abdelrahman Mahmoud Elhusseiny2,3
1Department of Ophthalmology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.
Neuro-Ophthalmology (Aeolus Press)
|September 6, 2021
Summary
This study reports a rare case of extreme microphthalmia associated with septo-optic dysplasia in an infant. Early hormonal treatment is crucial to prevent Addisonian crisis.
Area of Science:
- Ophthalmology
- Pediatric Neurology
- Endocrinology
Background:
- Septo-optic dysplasia (SOD) is a congenital disorder characterized by optic nerve hypoplasia and midline brain abnormalities.
- Microphthalmia, a condition of abnormally small eyes, is rarely associated with SOD.
Purpose of the Study:
- To describe a rare case of extreme microphthalmia co-occurring with septo-optic dysplasia.
- To highlight the importance of hormonal assessment and management in such cases.
Main Methods:
- Clinical ocular examination of a 3-month-old boy with apparently absent globes.
- Magnetic resonance imaging (MRI) of the orbit and brain to assess ocular and neurological structures.
- Pituitary hormonal essay to evaluate endocrine function.
Main Results:
- The patient presented with bilateral extreme microphthalmia, hypoplastic orbits, and optic nerve abnormalities.
- MRI revealed absent septum pellucidum and absent corpus callosum, consistent with SOD.
- Hormonal analysis showed decreased adrenocorticotropic hormone and thyroid-stimulating hormone.
Conclusions:
- Extreme microphthalmia can be a rare presenting feature of septo-optic dysplasia.
- Early diagnosis and hormonal replacement therapy (hydrocortisone, levothyroxine) are vital to prevent life-threatening complications like Addisonian crisis.
