Retinal Hamartoma in Neurofibromatosis 2

In 1973 Gass¹recorded 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).²We 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