Eye Patient Diagnosed With a Rare Genetic Disorder During Myopia Treatment
Shanghai Ai'er Eye Hospital doctors diagnosed a patient with a rare genetic disorder during severe myopia treatment and advised on genetic screening, cardiac care, and family planning.
The patient consulted Dr Cai Jinfeng about laser eye surgery. But Cai found clinical signs of Marfan syndrome, an inherited connective tissue disorder that affects organs and tissues. This condition usually affects the heart, eyes, blood vessels, and skeleton.
Marfan syndrome is characterized by tall, slender people with long limbs, fingers, and toes. The patient had elongated extremities, severe myopia, and compromised retinal tissue with a risk of detachment.
A professional clinical evaluation by Cai recommended immediate cardiac and genetic testing after determining the patient's risk for this rare condition. He advised the patient and his spouse to use in vitro fertilization (IVF) to prevent the inherited disorder and have a healthy pregnancy.
This advice proved life-changing for the family. The patient underwent urgent cardiac evaluation and subsequent heart surgery. The couple later successfully welcomed a healthy baby via IVF.
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