Clinical features of patients with mutations in genes for nanophthalmos.

Xueqing LiHui XiaoYihua SuXueshan XiaoShiqiang LiShufen LinLei FangWenmin SunPanfeng WangJames Fielding Hejtmancik Min Bin YuLiming ChenQingjiong Zhang Xing Liu

Published in: The British journal of ophthalmology (2024)

are the most common genetic cause of NNO. ACG is a severe complication frequently observed in these patients. Earlier onset of ACG is observed in patients with dominant NNO, while foveal hypoplasia is more common in patients with recessive disease. Recognising these features is helpful in clinical care and genetic counselling.

Keyphrases

genome wide
end stage renal disease
newly diagnosed
ejection fraction
healthcare
palliative care
prognostic factors
copy number
early onset
dna methylation
gene expression
autism spectrum disorder
patient reported outcomes
smoking cessation
transcription factor
chronic pain
hiv testing
genome wide identification