双态变异减少，但不要消除，通过减少由基因产生的mRNA或蛋白质产物的量或通过产生具有减少的功能的基因产物来实现基因功能。许多副形态变异与遗传性视网膜疾病（IRD）和其他遗传性眼部疾病有关；然而，在科学文献中使用“低态”一词存在异质性。我们搜索了所有报道的导致IRD和眼部疾病的低态变异。我们还讨论了在过去十年中，我们眼遗传学部门的患者人群中存在低态变异。我们建议应采用标准化标准来使用术语“低态”来描述基因变异，以改善遗传咨询和患者护理结果。
Hypomorphic variants decrease, but do not eliminate, gene function via a reduction in the amount of mRNA or protein product produced by a gene or by production of a gene product with reduced function. Many hypomorphic variants have been implicated in inherited retinal diseases (IRDs) and other genetic ocular conditions; however, there is heterogeneity in the use of the term \"hypomorphic\" in the scientific literature. We searched for all hypomorphic variants reported to cause IRDs and ocular disorders. We also discuss the presence of hypomorphic variants in the patient population of our ocular genetics department over the past decade. We propose that standardized criteria should be adopted for use of the term \"hypomorphic\" to describe gene variants to improve genetic counseling and patient care outcomes.
