Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
Yi JiangXueshan XiaoWenmin SunYingwei WangShiqiang LiXiaoyun JiaPanfeng WangJ Fielding HejtmancikQingjiong ZhangPublished in: Journal of translational medicine (2024)
Genetic defects were identified in about one-fourth of simplex uHM patients in which significant consequences may be hidden under a classic myopic fundus in up to half. To our knowledge, this is the first systematic genetic study on simplex uHM to date. In addition to routine care of strabismus and amblyopia, careful examination of the peripheral retina and genetic screening is warranted for patients with uHM in order to identify signs of risk for retinal detachment and other complications and provide meaningful genetic counseling.
Keyphrases
- genome wide
- risk factors
- healthcare
- copy number
- end stage renal disease
- newly diagnosed
- ejection fraction
- palliative care
- early onset
- diabetic retinopathy
- dna methylation
- prognostic factors
- quality improvement
- peritoneal dialysis
- chronic pain
- clinical practice
- human immunodeficiency virus
- hiv testing
- men who have sex with men
- optic nerve