Congenital overabundance of ganglion cells was found all through the choroid of one eye of a patient with bilateral absolute glaucoma and buphthalmus. Associated excess of choroidal Schwann cells, melanocytes and nerves make this case very similar to choroidal neurofibromatosis. However, there are no history and general findings to support this diagnosis and some of the typical histological findings of choroidal neurofibromatosis are absent in the present patient.
Report of Case
—This 42-year-old white woman was first seen in 1946 at age 24 complaining of poor vision in both eyes. The family history revealed her living four sisters and two brothers as well as her parents to be without any known eye disease and without signs of neurofibromatosis. The patient stated that she had had poor vision as long as she could remember.The examination in 1946 revealed her vision to be OD: light perception, and OS: 20/30.
WOLTER JR, BRYSON JM, McKEE TP. Ganglioneuromelanocytosis of the Choroid: With Bilateral Juvenile Glaucoma. Arch Ophthalmol. 1965;74(3):353–356. doi:https://doi.org/10.1001/archopht.1965.00970040355012
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