遗传的高近视和视网膜变:遗传特征,自然史和深度表型

Michalis Georgiou1, Kaoru Fujinami2, Anthony G Robson3

  • 1From Moorfields Eye Hospital (M.G., K.F., A.G.R., G.A., N.P., O.A.M., A.R.W., M.M.), London, UK; UCL Institute of Ophthalmology (M.G., K.F., A.G.R.m G.A., N.P., O.A.M., A.R.W., M.M.), University College London, London, UK; Jones Eye Institute (M.G., A.F.S., M.H.J., S.H.U.), University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

PubMed
概括

RBP3-视网膜病变是一种罕见的遗传性疾病,导致早期高近视和视网膜发育不良. 这项研究详细介绍了其临床特征和缓慢的几十年的进展,为诊断和咨询提供了洞察力.