Daich Varela Malena, Michaelides Michel
UCL Institute of Ophthalmology, University College London, London, UK.
Moorfields Eye Hospital, London, UK.
Ophthalmic Genet. 2022 May 2;43(3):1-6. doi: 10.1080/13816810.2022.2062392.
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.
视黄醇脱氢酶12（RDH12）是位于14号染色体上的一个小基因，编码一种能够代谢类视黄醇的酶。它主要位于光感受器内节，因此被认为在清除由光照产生的过量视黄醛和其他有毒醛类方面发挥重要作用。临床特征：RDH12相关性视网膜病变具有广泛的表型变异性；包括早发性严重视网膜营养不良/莱伯先天性黑蒙（EOSRD/LCA；最常见表现）、色素性视网膜炎、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的关键特征是早期视力损害、花瓣状、类似脉络膜缺损的黄斑萎缩伴杂色水彩样图案、视乳头周围保留，且常伴有密集的骨针状色素沉着。未来方向：目前尚无针对RDH12视网膜病变的治疗方法。然而，广泛的临床前研究和正在进行的前瞻性自然史研究正在为设计和开展即将到来的临床试验奠定必要基础。在此，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。
