Question
What is your diagnosis from the given image?
| A. |
Neurofibromatosis
|
| B. |
von Hippel-Lindau sydrome
|
| C. |
Sturge-Weber syndrome
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| D. |
Tuberous sclerosis
|
Show Answer
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Correct Answer � A
Explanation
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|
The image shows Lisch nodules of the iris, a sign suggestive of neurofibromatosis type 1.
Lisch nodule, also known as iris hamartoma, is a pigmented hamartomatous nodular aggregate of dendritic melanocytes affecting the iris.
Ophthalmologic manifestations of NF-1 include the following:
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Lisch nodules
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Plexiform neurofibromas, eyelid plexiform neurofibroma gives a characteristic S-shaped deformity of the upper lid, and classically, it is texturally reminiscent of “bag of worms”
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Choroid hamartomas
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Retinal tumors
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Optic nerve gliomas
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Prominent corneal nerves
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Congenital glaucoma
- Spheno-orbital encephalocele, due to dysplasia of the greater wing of the sphenoid
- Congenital ectropion uveae
- NF-1 is the most common of the various conditions referred to as hamartomas. Visual loss secondary to optic nerve glioma is the most serious ophthalmologic manifestation of NF-1.
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