Alterations in optical coherence tomography and optical coherence tomography angiography findings in children with partial biotinidase deficiency

Gamze Karataş; Akın Çakır; Nafiye Emel Çakar; Derya Çepni Çakır; Mehmet Egemen Karataş; Ozan Akpunar; Aslı Kırmacı Kabakcı; Dilan Yıldız

doi:10.1515/jpem-2024-0261

Article

Alterations in optical coherence tomography and optical coherence tomography angiography findings in children with partial biotinidase deficiency

Gamze Karataş , Akın Çakır , Nafiye Emel Çakar , Derya Çepni Çakır , Mehmet Egemen Karataş , Ozan Akpunar , Aslı Kırmacı Kabakcı and Dilan Yıldız

Published/Copyright: September 20, 2024

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 37 Issue 11

Abstract

Objectives

The aim of the study was to investigate whether retinal neurovascular structural impairment in children with partial biotinidase deficiency (BD) could be detected early via optical coherence tomography (OCT) and OCT angiography (OCTA).

Methods

Eighty patients with partial BD and 80 control cases without any known systemic or ocular diseases were enrolled in this prospective study. Retinal neurovascular structures in the macular and optic disc regions were examined in using OCT and OCTA. Data from subjects with partial BD were compared with data from healthy controls.

Results

A statistically significant decrease in the vessel density (VD) was observed in both superior and inferior parts of the superficial capillary plexus (SCP) and the deep capillary plexus (DCP) in the partial BD patient group compared with the control group (p<0.05). A significant decrease in the VD was also observed in the superior and inferior peripapillary SCP-DCP regions of the optic disc area in the patients with partial BD (p<0.05). Both the superficial and deep foveal avascular zone (FAZ) areas were significantly enlarged in the partial BD group with respect to the control group (p=0.026, p=0.021 respectively).

Conclusions

In the partial BD patients, the vascular density in the macula and optic disc region is decreased in childhood, when compared to the control group. In patients with partial BD, it would be very useful to detect the early neurovascular changes that may occur during the course of the disease by means of a noninvasive technique such as OCTA.

Keywords: partial biotinidase deficiency; retina; metabolic diseases

Corresponding author: Gamze Karataş, MD, Department of Ophthalmology, Prof. Dr. Cemil Taşcıoğlu City Hospital, Istanbul, Türkiye, E-mail: madengamze14@gmail.com

Acknowledgments

The authors alone are responsible for the content and writing of the article.

Research ethics: This study was approved by the ethics committee of Prof. Dr. Cemil Taşçıoğlu City Hospital, Istanbul, (approval ID: 11.2023/224) and adhered to the tenets of the Declaration of Helsinki.
Informed consent: Written informed consent was obtained from all participants.
Author contributions: The authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: None of the authors have any proprietary interests or conflicts of interest related to this submission.
Research funding: None declared.
Data availability: The raw data can be obtained on request from the corresponding author.

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Received: 2024-05-30

Accepted: 2024-08-27

Published Online: 2024-09-20

Published in Print: 2024-11-26

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Articles in the same Issue

https://doi.org/10.1515/jpem-2024-0261

Keywords for this article

partial biotinidase deficiency; retina; metabolic diseases