Multiple retinal astrocytic hamartomas in siblings with lebers congenital amaurosis: a case series and review of literature

• Main Authors: Lagan Paul, Sumit Kumar, Shalini Singh, Tanya Jain
• Format: Article
• Language: English
• Published: BMC 2020-09-01
• Series: BMC Ophthalmology
• Subjects: Case report; Lebers congenital amaurosis (LCA); Retinal astrocytic hamartomas (RAHs); Inherited retinal disorder (IRD)
• Online Access: http://link.springer.com/article/10.1186/s12886-020-01646-z

Abstract Background Leber’s congenital amaurosis (LCA) is a known inherited retinal disease (IRD) associated with severe visual loss, nystagmus, amaurotic pupils, oculo-digital sign and markedly reduced or absent electroretinograms (ERG). Retinal astrocytic hamartomas (RAH) is a benign vascularized glial tumor of the retina. There is no known association of these two entities, more so in siblings. Case presentation A pair of siblings diagnosed as LCA who presented with RAH with no extraocular symptoms or signs of phakomatosis were imaged. Multimodal imaging was performed and are elaborately described in this article. Conclusion LCA in siblings with multiple RAHs is an extremely rare association. Recent advances in retinal imaging tools have aided in diagnosing even subtle and early RAH with high sensitivity using Infrared imaging (IRI) and Optical coherence tomography (OCT).