Multiple retinal astrocytic hamartomas in siblings with lebers congenital amaurosis: a case series and review of literat
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CASE REPORT
Open Access
Multiple retinal astrocytic hamartomas in siblings with lebers congenital amaurosis: a case series and review of literature Lagan Paul*, Sumit Kumar, Shalini Singh and Tanya Jain
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). Keywords: Case report, Lebers congenital amaurosis (LCA), Retinal astrocytic hamartomas (RAHs), Inherited retinal disorder (IRD)
Background Lebers Congenital Amaurosis (LCA) is an inherited retinal disorder (IRD) which is characterized by severe visual loss which maybe present congenitally or in early infancy. It is associated with nystagmus, amaurotic pupils, oculo-digital sign and markedly reduced or absent electroretinograms (ERG) [1]. We report two siblings with non-syndromic forms of LCA with multiple retinal astrocytic hamartomas (RAHs) in the eyes. We describe the findings of multimodal imaging techniques in these eyes in the present case report.
* Correspondence: [email protected] Department of Vitreo-Retina Services, Dr. Shroff Charity Eye Hospital, 5027, Kedarnath Lane, Daryaganj, Delhi, New Delhi 110002, India
Case presentation An 8 years old boy presented with complaint of painless visual deterioration in both eyes (BE) since early childhood. On examination, the best corrected visual acuity (BCVA) in the right eye (RE) was 6/18, N18 and in the left eye (LE) was counting finger at 10 cm, N60 with nystagmus in BE. Supero-nasal subluxation of the lens was present in BE. Applanation tonometry was normal in BE. Fundus examination of BE showed normal optic disc with generalized attenuation of vessels with retinal pigment epithelium (RPE) atrophy and pigmentary alterations in the retina. A reddishorange hue was seen at the fovea and atrophic maculopathy was noted. There were characteristic multiple off -white relatively well defined lesions, which were more marked along the arcades in the RE with a single lesion located on the inferonasal retinal quadrant in the fellow eye (Fig. 1).
© The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate
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