PDF(Pubmed)
Abstract：
Polydactyly-myopia syndrome is a rare genetic condition characterized by the co-occurrence of polydactyly and myopia. Herein, we present the case of a 28-year-old Muslim male, born of consanguineous parents, who presented with complaints of diminished vision since childhood. Ophthalmologic examination revealed severe myopia with characteristic fundus changes indicative of high myopia. Additionally, the patient exhibited polydactyly in all limbs, with a positive family history of both polydactyly and myopia. This case underscores the importance of recognizing and managing rare syndromes to provide appropriate genetic counseling and clinical care. Further research is warranted to elucidate the underlying genetic mechanisms and optimize therapeutic strategies for polydactyly-myopia syndrome. Awareness of this syndrome among healthcare providers is essential to facilitate early diagnosis and intervention for affected individuals and their families.
摘要：
多指近视综合征是一种罕见的遗传病，其特征是多指和近视并存。在这里，我们介绍了一个28岁的穆斯林男性的案例，亲生父母，从小就抱怨视力下降。眼科检查显示重度近视，特征性眼底改变提示高度近视。此外,病人四肢都表现出多指畸形，有多指和近视的阳性家族史。此病例强调了识别和管理罕见综合征以提供适当的遗传咨询和临床护理的重要性。需要进一步的研究来阐明潜在的遗传机制并优化多指近视综合征的治疗策略。医疗保健提供者对这种综合征的认识对于促进受影响的个人及其家人的早期诊断和干预至关重要。
