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Case Report: Multiple Retinal Astrocytic Hamartomas in Congenital Disorder of Glycosylation-Ia

Congenital disorder of glycosylation-Ia (CDG-Ia) is a rare autosomal recessive genetic disorder, characterized by systemic and ophthalmological abnormalities. Here, we report multiple retinal astrocytic hamartomas as a new retinal finding in an adolescent affected by congenital disorder of CDG-Ia. A...

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Autores principales: Midena, Giulia, Pilotto, Elisabetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8882650/
https://www.ncbi.nlm.nih.gov/pubmed/35237617
http://dx.doi.org/10.3389/fmed.2022.697030
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author Midena, Giulia
Pilotto, Elisabetta
author_facet Midena, Giulia
Pilotto, Elisabetta
author_sort Midena, Giulia
collection PubMed
description Congenital disorder of glycosylation-Ia (CDG-Ia) is a rare autosomal recessive genetic disorder, characterized by systemic and ophthalmological abnormalities. Here, we report multiple retinal astrocytic hamartomas as a new retinal finding in an adolescent affected by congenital disorder of CDG-Ia. A 15-year-old boy affected by CDG-Ia underwent full ophthalmic examination, full field electroretinography (ERG) evaluation and retinal multimodal imaging, including: fundus photography, spectral domain optical coherence tomography (SD-OCT) and blue fundus autofluorescence (FAF). Blue FAF showed multiple papillary and iuxtapapillary bilateral hyper-FAF lesions, corresponding to hyperreflective thickening of the retinal nerve fiber layer, with internal optical empty spaces and posterior dense optical shadowing at SD-OCT. These imaging findings were consistent with retinal astrocytic hamartomas. Scotopic ERG response was significantly reduced in both eyes. Macular edema and absence of the retinal outer segments layer were also detectable. Retinal multi-modal imaging provides additional insights about retinal involvement of patients affected by CDG-Ia. In particular, this case shows the presence of multiple retinal astrocytic hamartomas.
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spelling pubmed-88826502022-03-01 Case Report: Multiple Retinal Astrocytic Hamartomas in Congenital Disorder of Glycosylation-Ia Midena, Giulia Pilotto, Elisabetta Front Med (Lausanne) Medicine Congenital disorder of glycosylation-Ia (CDG-Ia) is a rare autosomal recessive genetic disorder, characterized by systemic and ophthalmological abnormalities. Here, we report multiple retinal astrocytic hamartomas as a new retinal finding in an adolescent affected by congenital disorder of CDG-Ia. A 15-year-old boy affected by CDG-Ia underwent full ophthalmic examination, full field electroretinography (ERG) evaluation and retinal multimodal imaging, including: fundus photography, spectral domain optical coherence tomography (SD-OCT) and blue fundus autofluorescence (FAF). Blue FAF showed multiple papillary and iuxtapapillary bilateral hyper-FAF lesions, corresponding to hyperreflective thickening of the retinal nerve fiber layer, with internal optical empty spaces and posterior dense optical shadowing at SD-OCT. These imaging findings were consistent with retinal astrocytic hamartomas. Scotopic ERG response was significantly reduced in both eyes. Macular edema and absence of the retinal outer segments layer were also detectable. Retinal multi-modal imaging provides additional insights about retinal involvement of patients affected by CDG-Ia. In particular, this case shows the presence of multiple retinal astrocytic hamartomas. Frontiers Media S.A. 2022-02-14 /pmc/articles/PMC8882650/ /pubmed/35237617 http://dx.doi.org/10.3389/fmed.2022.697030 Text en Copyright © 2022 Midena and Pilotto. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Medicine
Midena, Giulia
Pilotto, Elisabetta
Case Report: Multiple Retinal Astrocytic Hamartomas in Congenital Disorder of Glycosylation-Ia
title Case Report: Multiple Retinal Astrocytic Hamartomas in Congenital Disorder of Glycosylation-Ia
title_full Case Report: Multiple Retinal Astrocytic Hamartomas in Congenital Disorder of Glycosylation-Ia
title_fullStr Case Report: Multiple Retinal Astrocytic Hamartomas in Congenital Disorder of Glycosylation-Ia
title_full_unstemmed Case Report: Multiple Retinal Astrocytic Hamartomas in Congenital Disorder of Glycosylation-Ia
title_short Case Report: Multiple Retinal Astrocytic Hamartomas in Congenital Disorder of Glycosylation-Ia
title_sort case report: multiple retinal astrocytic hamartomas in congenital disorder of glycosylation-ia
topic Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8882650/
https://www.ncbi.nlm.nih.gov/pubmed/35237617
http://dx.doi.org/10.3389/fmed.2022.697030
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