title: Familial occurrence of combined pigment epithelial and retinal hamartomas associated with neurofibromatosis 2.
abstract: Combined pigment epithelial and retinal hamartomas are rare lesions that usually occur sporadically in individuals without systemic abnormalities. However, they have been reported in isolated patients with neurofibromatosis 1 and 2. No familial cases have been reported. The cases of four patients with unilateral macular lesions from three consecutive generations of a single family are presented: two of the patients also have neurofibromatosis 2. The ophthalmoscopic appearance of their ocular lesions resembles combined pigment epithelial and retinal hamartomas. The morphologic differences in the lesions of these 4 patients, whose ages are 8 months, 5 years, 29 years, and 65 years, may serve to demonstrate the evolution of this type of hamartoma.
authors.affiliation: National Eye Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892.
authors.forename: E A
authors.initials: EA
authors.lastname: Bouzas
authors.forename: D M
authors.initials: DM
authors.lastname: Parry
authors.forename: R
authors.initials: R
authors.lastname: Eldridge
authors.forename: M I
authors.initials: MI
authors.lastname: Kaiser-Kupfer
mesh_terms: D000328:Adult; D000368:Aged; D002675:Child, Preschool; D005134:Eye Neoplasms / Q000235:genetics / Q000473:pathology; D005260:Female; D005654:Fundus Oculi; D006222:Hamartoma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D016518:Neurofibromatosis 2 / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012164:Retinal Diseases / Q000235:genetics* / Q000473:pathology; D014792:Visual Acuity