Version 1
: Received: 13 June 2023 / Approved: 14 June 2023 / Online: 14 June 2023 (13:47:40 CEST)
How to cite:
Vukojević, A.; Vukojević, M.; Jukić, T.; Petriček, I.; Mandić, K.; Vukojević, N. Pseudovitelliform Maculopathy Associated with Hereditary Hemochromatosis: Two Case Reports. Preprints2023, 2023061051. https://doi.org/10.20944/preprints202306.1051.v1
Vukojević, A.; Vukojević, M.; Jukić, T.; Petriček, I.; Mandić, K.; Vukojević, N. Pseudovitelliform Maculopathy Associated with Hereditary Hemochromatosis: Two Case Reports. Preprints 2023, 2023061051. https://doi.org/10.20944/preprints202306.1051.v1
Vukojević, A.; Vukojević, M.; Jukić, T.; Petriček, I.; Mandić, K.; Vukojević, N. Pseudovitelliform Maculopathy Associated with Hereditary Hemochromatosis: Two Case Reports. Preprints2023, 2023061051. https://doi.org/10.20944/preprints202306.1051.v1
APA Style
Vukojević, A., Vukojević, M., Jukić, T., Petriček, I., Mandić, K., & Vukojević, N. (2023). Pseudovitelliform Maculopathy Associated with Hereditary Hemochromatosis: Two Case Reports. Preprints. https://doi.org/10.20944/preprints202306.1051.v1
Chicago/Turabian Style
Vukojević, A., Krešimir Mandić and Nenad Vukojević. 2023 "Pseudovitelliform Maculopathy Associated with Hereditary Hemochromatosis: Two Case Reports" Preprints. https://doi.org/10.20944/preprints202306.1051.v1
Abstract
Hereditary hemochromatosis (HH) is an inherited iron metabolism disorder. It is caused by an autosomal recessive disorder resulting from a C28Y8 HFE gene mutation. Mutations in the HFE gene may result in iron accumulation and oxidative stress in the retina, resulting in macular degeneration. This article describes two patients with HH who developed vision difficulties. Both patients were subjected to a retinal exam, multimodal imaging, and electrodiagnostic techniques, which revealed structural and functional degeneration of the central macula. Fundus photography, fluorescein angiography (FA), and fundus autofluorescence (FAF) revealed changes at the level of the retinal pigment epithelium (RPE) in the center of the macula, while optical coherence tomography (OCT) revealed subfoveal accumulation of hyperreflective material at and below the RPE. The multifocal electroretinogram (mfERG) confirmed a decreased cone response, whereas the full-field electroretinogram (ERG) revealed no pathological findings. In addition, patients underwent genetic testing, which ruled out the possibility of hereditary macular dystrophy. Considering macula findings and the nature of the patients' primary illness, we believe that the higher concentration and accumulation of iron and photoreceptor metabolic products have led to dysfunction in the RPE, which has led to morphological and functional changes in the macula.
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
