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.
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Date
2016-11
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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.
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Keywords
Combined hamartoma of retina and retinal pigment epithelium, eye tumor, neurofibromatosis type 2, retinal astrocytic proliferation
Citation
Rishi Pukhraj, Hirawat Raj Shri, Verma Aditya. 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. Indian Journal of Ophthalmology. 2016 Nov; 64(11): 850-852.