Retinal astrocytic hamartomas (RAH)
Benign tumors of the RNFL
Occur in isolation (unilateral, unifocal) or in association with tuberous sclerosis complex (TSC) or neurofibromatosis (bilateral, multiple)
Three types have been described [Rowley SA, et al BJO 2001]:
Type 1 – semitransparent, flat, greyish lesions confined to the RNFL, no signs of calcification
Type 2 – multinodular calcified lesions with the classic mulberry-like appearance
Type 3 – combined lesions
OCT aids in diagnosis of RAH, picking up secondary changes such as SRF, ERM and in the follow up of these lesions. SD-OCT classification of RAH was proposed by Pichi F, et al Retina 2016 which aslo described relationship to systemic findings:
Type 1 –flat, gradual transition, tumor in NFL
Type 2 – elevated, sudden transition, tumor superficial to NFL, VR traction. Cutaneous fibrous plaques+
Type 3 – calcified, moth eaten appearance. SEGA+
Type 4 – dome shaped, optically empty. Pulmonary lymphangiomyomatosis+
Important to recognise RAH:
As these are benign and generally show minimal growth
Early diagnosis is imporatant for systemic evaluation and genetic counselling
We have published a large symptomatic RAH in a child with TSC –full text available at https://pubmed.ncbi.nlm.nih.gov/29234235/
Also published SD-OCT features of RAH in 2012 -https://pubmed.ncbi.nlm.nih.gov/22618130/
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