PDF(Pubmed)
Abstract：
Retinol dehydrogenase 12 (RDH12) is a small gene located on chromosome 14, encoding an enzyme capable of metabolizing retinoids. It is primarily located in photoreceptor inner segments and thereby is believed to have an important role in clearing excessive retinal and other toxic aldehydes produced by light exposure. Clinical features: RDH12-associated retinopathy has wide phenotypic variability; including early-onset severe retinal dystrophy/Leber Congenital Amaurosis (EOSRD/LCA; most frequent presentation), retinitis pigmentosa, cone-rod dystrophy, and macular dystrophy. It can be inherited in an autosomal recessive and dominant fashion. RDH12-EOSRD/LCA\'s key features are early visual impairment, petal-shaped, coloboma-like macular atrophy with variegated watercolour-like pattern, peripapillary sparing, and often dense bone spicule pigmentation. Future directions: There is currently no treatment available for RDH12-retinopathy. However, extensive preclinical investigations and an ongoing prospective natural history study are preparing the necessary foundation to design and establish forthcoming clinical trials. Herein, we will concisely review pathophysiology, molecular genetics, clinical features, and discuss therapeutic approaches.
摘要：
视黄醇脱氢酶12(RDH12)是位于染色体14上的小基因,其编码能够代谢类视黄醇的酶。它主要位于光感受器内节段中,因此被认为在清除过多的视网膜和其他由光暴露产生的有毒醛方面具有重要作用。临床特征：RDH12相关视网膜病变具有广泛的表型变异性;包括早发性重度视网膜营养不良/Leber先天性黑蒙（EOSRD/LCA;最常见的表现），视网膜色素变性,锥杆营养不良,和黄斑营养不良.它可以以常染色体隐性和显性方式遗传。RDH12-EOSRD/LCA的主要特征是早期视力障碍，花瓣形,有杂色水彩样模式的结肠样黄斑萎缩，乳头状周围保留，通常是密集的骨针色素沉着。未来方向：目前尚无RDH12视网膜病变的治疗方法。然而,广泛的临床前调查和正在进行的前瞻性自然史研究正在为设计和建立即将进行的临床试验奠定必要的基础。在这里，我们将简要回顾病理生理学，分子遗传学,临床特征,并讨论治疗方法。
