In 1973 Gass1 recorded the occurrence of combined pigment epithelial and retinal hamartoma (CPERH) in a patient with cutaneous signs suggesting neurofibromatosis (NF). It has now been proven that NF consists of at least two distinct diseases, each caused by a unique chromosomal defect: NF-1 (the von Recklinghausen type) and NF-2 (the bilateral acoustic neuroma type).2 We report herein a case of CPERH associated with NF-2.
Report of a Case.
—A 16-year-old girl was hospitalized in Caracas, Venezuela, in 1982 with symptoms of progressive spastic quadriparesis, dysphagia, dysphonia, headache, and a recent spell of unconsciousness lasting 1 hour. She had multiple café-au-lait spots, multiple neurofibromas, bilateral hyposmia, right corneal hypesthesia, right-sided facial weakness, right-sided deafness, left-sided hypacusis, diaphragmatic palsy, and right-sided lingual palsy with atrophy. Visual acuity was finger counting in the right eye and 20/25 OS. Both lenses had mild posterior subcapsular opacities. In the right fundus
Landau K, Dossetor FM, Hoyt WF, Muci-Mendoza R. Retinal Hamartoma in Neurofibromatosis 2. Arch Ophthalmol. 1990;108(3):328–329. doi:10.1001/archopht.1990.01070050026011
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