ESPE2023 Rapid Free Communications Fat, metabolism and obesity 1 (6 abstracts)
Early Corneal Nerve Loss in Children with Melanocortin 4 Receptor (MC4R) Gene Mutation Related Obesity
Hoda Gad 1 , Hajar Dauleh 2 , Maheen Pasha 2 , Idris Omer 2 , Tara Al-Barazenji 2 , Mashael Alshafai 2 , Mohamed A. Hendaus 2 , Rayaz A. Malik 1 & Khalid Hussain 2
1Weill Cornell Medicine-Qatar, Doha, Qatar. 2Sidra Medicine, Doha, Qatar
Background: Obesity is highly prevalent worldwide, particularly in the MENA region. Whilst simple obesity has a variable genetic and environmental basis, syndromic and non-syndromic monogenic obesity has a strong genetic component. Melanocortin 4 receptor (MC4R) mutations are the commonest cause of monogenic obesity. MC4R also regulates neuropathic pain pathways via JNK signaling after nerve injury.
Methods: Five children with the rare MC4R gene mutations underwent corneal confocal microscopy (CCM) and were compared to healthy controls. Corneal nerve fiber density (CNFD), corneal nerve branch density (CNBD), and corneal nerve fiber length (CNFL) were quantified manually using CCMetrics software.
Results: Children with MC4R gene mutation compared to controls aged 8.43±1.5 vs. 11.6±1.14 years, weighing 76.32±20.54 vs. 44.44±12.09 kg, with 53.46±4.74 % body fat without neuropathic symptoms and normal VPT (3.94±2.22 V) had non-significantly lower CNBD (40.9±20.5 vs. 62.9±20.1, P= 0.344) and CNFL (20.37±2.01 vs. 22.63±4.5, P= 0.334) , with no difference in CNFD (29.79±4.0 vs. 30.62±7.0, P= 0.822) .
Conclusion: Young children without neuropathic pain and normal vibration perception have evidence of early corneal nerve loss, indicative of sub-clinical neuropathy. Further studies are required to understand how mutations in the MC4R lead to corneal nerve loss.
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