title: Association of bilateral, multiple presumed retinal astrocytic proliferations with combined hamartoma of retina and retinal pigment epithelium in a 9-year-old male child with neurofibromatosis type 2.
abstract: Neurofibromatosis type 2 (NF-2) is characterized by multifocal proliferation of neural crest-derived cells. The characteristics finding of NF-2 is bilateral vestibular schwannomas. Combined hamartoma of retina and retinal epithelium (CHRRPE) is another associated finding. A 9 year-old-male child presented with left eye decreased vision for 3 months. Visual acuity was 0.0 and 0.8 LogMAR in the right and left eye, respectively. Left fundus showed an elevated, pigmented lesion with surface wrinkling and vascular tortuosity suggestive of CHRRPE with multiple presumed retinal astrocytic proliferations in mid-periphery. He had multiple café-au-lait spots. Optical coherence tomography confirmed clinical findings. Magnetic resonance imaging brain showed bilateral acoustic neuroma. Recognition of this rare finding as presenting feature of NF-2 can lead to earlier diagnosis which is vital to appropriate surveillance and possible surgical intervention. It is recommended that children with CHRRPE be screened for NF-2.
authors.affiliation: Shri Bhagwan Mahavir Vitreoretinal Services, Chennai, Tamil Nadu, India.
authors.forename: Pukhraj
authors.initials: P
authors.lastname: Rishi
authors.affiliation: Shri Bhagwan Mahavir Vitreoretinal Services, Chennai, Tamil Nadu, India.
authors.forename: Raj Shri
authors.initials: RS
authors.lastname: Hirawat
authors.affiliation: Shri Bhagwan Mahavir Vitreoretinal Services, Chennai, Tamil Nadu, India.
authors.forename: Aditya
authors.initials: A
authors.lastname: Verma
mesh_terms: D001253:Astrocytes / Q000473:pathology*; D001921:Brain / Q000473:pathology; D002648:Child; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006222:Hamartoma / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D016518:Neurofibromatosis 2 / Q000150:complications* / Q000175:diagnosis; D012164:Retinal Diseases / Q000150:complications / Q000175:diagnosis*; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity