Ramos-Sánchez Raúl Y, López-Fontanet José J, Izquierdo Natalio
Ophthalmology, University of Puerto Rico, Medical Sciences Campus, San Juan, PRI.
Cureus. 2023 Sep 17;15(9):e45426. doi: 10.7759/cureus.45426. eCollection 2023 Sep.
Patients with adult Refsum Disease (ARD) have retinitis pigmentosa and thus nyctalopia, anosmia, sensorineural deafness, polyneuropathy, and ataxia. Upon physical examination, patients with ARD have congenital short metacarpals, metatarsals, and cardiac arrhythmias. Manifestations due to the lack of phytanoyl-CoA hydroxylase in peroxisomes needed for alpha-oxidation of phytanic acid lead patients to accumulate phytanic acid in their body tissues. To our knowledge, no consensus for clinical diagnostic criteria for patients with ARD has been published. Our patient had nyctalopia, retinal findings, and visual field results compatible with retinitis pigmentosa. Additionally, the patient had decreased macular thickness and volume in both eyes, the findings being worse in the left eye. The patient had undergone hand surgery due to chronic pain in both hands, as well as his fourth and fifth metatarsal bones were shortened. Interestingly, audiology evaluation showed mild hearing loss in the right ear and mild to moderate hearing loss in the left ear. Inheritance patterns in patients with ARD have been described. Physical examination, phytanic acid evaluation, and genetic studies may all help reach an ARD diagnosis. This is the first report of adult Refsum disease in Puerto Rico.
患有成人型Refsum病（ARD）的患者会出现色素性视网膜炎，进而导致夜盲、嗅觉丧失、神经性耳聋、多发性神经病和共济失调。体格检查时，ARD患者有先天性掌骨、跖骨短小以及心律失常。由于植烷酸α-氧化所需的过氧化物酶体中缺乏植烷酰辅酶A羟化酶，患者体内组织会积累植烷酸，从而出现上述症状。据我们所知，目前尚未发表关于ARD患者临床诊断标准的共识。我们的患者有夜盲、视网膜病变以及与色素性视网膜炎相符的视野检查结果。此外，患者双眼黄斑厚度和体积均减小，左眼情况更糟。患者因双手慢性疼痛接受了手部手术，其第四和第五跖骨也缩短。有趣的是，听力评估显示患者右耳轻度听力损失，左耳轻度至中度听力损失。已对ARD患者的遗传模式进行了描述。体格检查、植烷酸评估和基因研究都可能有助于确诊ARD。这是波多黎各关于成人型Refsum病的首例报告。
