罕见单纯性近视

Rare isolated myopia

ORPHA:98619疾病

定义

罕见孤立性近视是一种罕见的遗传性屈光异常疾病，以非综合征性重度近视为特征，可能与白内障和能导致失明的玻璃体视网膜变性(视网膜脱离)相关。

基因	名称	关联类型
SCO2	synthesis of cytochrome C oxidase 2	Disease-causing germline mutation(s) in
P3H2	prolyl 3-hydroxylase 2	Disease-causing germline mutation(s) in
LRPAP1	LDL receptor related protein associated protein 1	Disease-causing germline mutation(s) (loss of function) in
SLC39A5	solute carrier family 39 member 5	Disease-causing germline mutation(s) in

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