Hereditary neuropathy, with or without age-related macular degeneration (HNARMD), is considered as subtype H of Charcot–Marie–Tooth disease type 1 (CMT1H) (Safka Brozkova et al. 2020). In 2011, Auer-Grumbach et al. (2011) reported a variety of manifestations in Austrian CMT1 families possessing mutations in the FBLN5 gene. According to the overall phenotype, they suggested that this demyelinating condition may represent a novel syndrome. Subsequently, the identification of several mutations in the FBLN5 gene in Japanese, Czech, and Chinese families confirmed the crucial role of FBLN5 gene in this syndrome. In terms of age at onset, CMT1H patients usually manifest common features such as peripheral sensorimotor neuropathy, muscle weakness, limb sensory disturbances, foot deformities, and impaired gait beginning in adulthood, approximately between the third and fifth decades of life. In addition, age-related muscle degeneration (ARMD) and hyperelastic skin may be evident, particularly in older patients (Safka Brozkova et al. 2020; Auer-Grumbach et al. 2011). To date, information regarding CMT1H is sparse and its prevalence is unclear.