N Castro Casal, N Olivier Pascual, R Arroyo Castillo
{"title":"长链3-羟基酰基辅酶a脱氢酶缺乏症（LCHAD）所致色素性脉络膜视网膜病变1例并长期随访。","authors":"N Castro Casal, N Olivier Pascual, R Arroyo Castillo","doi":"10.1016/j.oftale.2025.06.003","DOIUrl":null,"url":null,"abstract":"<p><p>Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a rare but severe genetic disorder that causes pigmentary chorioretinopathy. We present the case of a 20-year-old female patient diagnosed with LCHAD by neonatal screening with alteration of the retinal pigment epithelium (RPE) since the age of 3 years. Fundus examination showed a salt-and-pepper speckled granular pattern and diffuse peripheral chorioretinal atrophy. The patient is stable, visually asymptomatic and with good systemic control after more than 15 years of follow-up with retinography, optical coherence tomography (OCT), autofluorescence (FAF) and electroretinogram (ERG), essential for control. This case highlights the importance of early diagnosis and treatment to prevent decompensation and improve survival and progression.</p>","PeriodicalId":93886,"journal":{"name":"Archivos de la Sociedad Espanola de Oftalmologia","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2025-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Pigmentary chorioretinopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report with long-term follow-up.\",\"authors\":\"N Castro Casal, N Olivier Pascual, R Arroyo Castillo\",\"doi\":\"10.1016/j.oftale.2025.06.003\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a rare but severe genetic disorder that causes pigmentary chorioretinopathy. We present the case of a 20-year-old female patient diagnosed with LCHAD by neonatal screening with alteration of the retinal pigment epithelium (RPE) since the age of 3 years. Fundus examination showed a salt-and-pepper speckled granular pattern and diffuse peripheral chorioretinal atrophy. The patient is stable, visually asymptomatic and with good systemic control after more than 15 years of follow-up with retinography, optical coherence tomography (OCT), autofluorescence (FAF) and electroretinogram (ERG), essential for control. This case highlights the importance of early diagnosis and treatment to prevent decompensation and improve survival and progression.</p>\",\"PeriodicalId\":93886,\"journal\":{\"name\":\"Archivos de la Sociedad Espanola de Oftalmologia\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-06-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Archivos de la Sociedad Espanola de Oftalmologia\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1016/j.oftale.2025.06.003\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archivos de la Sociedad Espanola de Oftalmologia","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/j.oftale.2025.06.003","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Pigmentary chorioretinopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report with long-term follow-up.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a rare but severe genetic disorder that causes pigmentary chorioretinopathy. We present the case of a 20-year-old female patient diagnosed with LCHAD by neonatal screening with alteration of the retinal pigment epithelium (RPE) since the age of 3 years. Fundus examination showed a salt-and-pepper speckled granular pattern and diffuse peripheral chorioretinal atrophy. The patient is stable, visually asymptomatic and with good systemic control after more than 15 years of follow-up with retinography, optical coherence tomography (OCT), autofluorescence (FAF) and electroretinogram (ERG), essential for control. This case highlights the importance of early diagnosis and treatment to prevent decompensation and improve survival and progression.
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