| Title | Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2. | | Author(s) | Grant EA, Trzupek KM, Reiss J, Crow K, Messiaen L, Weleber RG | | Institution | School of Medicine, Oregon Health & Science University, Portland, Oregon, USA. | | Source | Ophthalmic Genet 2008 Sep; 29(3):133-8. | | Abstract | Purpose: To report two cases of neurofibromatosis type 2 (NF2) initially presenting with isolated bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE).
Methods: Retrospective observational case reports.
Results: Two unrelated children presented to ophthalmology with isolated combined hamartomas of the retina and RPE. Patient one presented to ophthalmology at the age of 2 years; by 4 years, he developed what was thought to be a plexiform neurofibroma and, with more than 6 cafe au lait spots, was diagnosed with neurofibromatosis type 1 (NF1). By the age of 5, he had developed bilateral vestibular schwannomas, and was diagnosed with NF2. Subsequent molecular testing revealed a truncating mutation in exon 13 (c.1396C > T; p.R466X) of the NF2 gene. Patient two presented to ophthalmology at the age of 7 months; by age 6 she had developed two subcutaneous masses on her forehead, a mass in her left lower abdomen, and in her gumline. Despite lack of pathological evidence of neurofibroma upon biopsy, molecular testing was initiated at age 6 and revealed a truncating mutation in exon 8 (c.734delA) of the NF2 gene in the blood.
Conclusions: Bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE) in a young child should alert the clinician to the possibility of neurofibromatosis type 2. The recognition of this rare finding as a presenting feature of NF2 can lead to earlier diagnosis, which is vital to appropriate surveillance and possible surgical intervention. | | Language | eng | | Pub Type(s) | Journal Article
| | PubMed ID | 18766994 |
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