Journal of Clinical and Experimental Ophthalmology
Open Access

Congenital Bilateral Glaucoma in a Patient with Neurofibromatosis Type I

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Description

A 34-year old man with a history of congenital bilateral glaucoma secondary to ectropion uvea has been followed up since 2006.

He is a known case of Neurofibromatosis Type I (NF1). Past ocular history included multiple glaucoma trabeculectomy surgeries.

At examination, he had bilateral thick blebs without exposure, a stable temporal pterygium and inferior conjunctival loss in left eye due to prior bleb revision (Figure1A), and bilateral glaucomatous optic discs (Figure1B) and confirmatory visual field and retinal nerve fiber layer tests (Figure1C).

Figure 1: Congenital Bilateral Glaucoma in a Patient with Neurofibromatosis Type I.

Histopathology showed plexiform neurofibroma (Figure1D). At his last follow up, intraocular pressure was normal without any glaucoma medication.

NF1, known as von Recklinghausen’ s disease, is a common disease with the birth incidence of 1 in 2500 individuals [1].

Congenital glaucoma is characterized by an improper development of aqueous outflow system which can be aggravated by increased intraocular pressure [2].

Ophthalmic examination would be helpful in early detection of eye diseases such as congenital glaucoma which can be the first presentation of NF1 [3].

References

1. Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol. 2009;61:1-14.
2. O’ Connor K. Primary congenital glaucoma: Making strides in genetic testing, early detection and treatment. Insight. 2009;34:11.
3. Li H, Liu T, Chen X, Xie L. A rare case of primary congenital glaucoma in combination with neurofibromatosis 1: A case report. BMC Ophthalmol. 2015;15:149.