Bouthillier Anne, Berthiaume Louis-Félix, Nguyen Anne Xuan-Lan, Zhai Shu Yi, Lalla Sarina, Bédard Olivier, Gauvin Mathieu, Little John M, Lachapelle Pierre
Department of Ophthalmology & Visual Sciences, Research Institute of the McGill University Health Centre-Montreal Children's Hospital, Montreal, QC, Canada.
Transl Vis Sci Technol. 2020 Jul 16;9(8):27. doi: 10.1167/tvst.9.8.27. eCollection 2020 Jul.
It has been suggested that retinal blood vessel arborization (RBVA) is unique to each individual. We examined this claim in a pedigree that included two pairs of monozygotic twins.
Fundus photographs were taken of subjects belonging to this pedigree to compare the pattern of their RBVA. Pattern prevalence within the general population was estimated from a pre-existing clinical database.
The optic nerve head (ONH) RBVA disclosed the following patterns: pattern A, outgrowth, with angle sizes ranging from 12° to 86°, toward the macula, made by the central retinal (CR) vein; pattern O, circular shape delimited by the CR artery on the nasal side and CR vein on the temporal (macula) side; and pattern Y, a double-Y shape (upright in the superior retina and upside down in the inferior retina) made by the four branches-inferior temporal and nasal and superior temporal and nasal-of the CR artery. The prevalence of patterns A, O, and Y was estimated at 11%, 2.8%, and 2.7%, respectively, from our pre-existing clinical database. Pattern A was the most frequently noted in our pedigree, with a prevalence of 26% to 29%, a value significantly larger ( < 0.05) than that measured in our sample of the general population. Of note, familial similarity is progressively lost as we move away from the ONH.
Relatives appear to share similar ONH RBVA patterns, suggesting that the ONH RBVA could be genetically transmitted as a familial trait. Arrangement of the more peripheral retinal blood vessels would create individuality.
Our results suggest the existence of a specific, reproducible, and transmissible retinal identifier, a feature that could potentially be associated with the prevalence of a given disease process, thus offering the possibility of identifying an underlying retinopathy long before its clinical manifestation and consequently optimize its management.
有人提出视网膜血管分支（RBVA）因人而异。我们在一个包含两对同卵双胞胎的家系中检验了这一说法。
对该家系中的受试者进行眼底照相，以比较他们的RBVA模式。从现有的临床数据库中估计一般人群中模式的患病率。
视神经乳头（ONH）的RBVA呈现以下模式：模式A，分支状，中央视网膜（CR）静脉向黄斑方向生长，角度大小在12°至86°之间；模式O，圆形，鼻侧由CR动脉界定，颞侧（黄斑）由CR静脉界定；模式Y，由CR动脉的四个分支（颞下和鼻下以及颞上和鼻上）形成的双Y形（上视网膜直立，下视网膜倒置）。根据我们现有的临床数据库，模式A、O和Y的患病率分别估计为11%、2.8%和2.7%。模式A在我们的家系中最常出现，患病率为26%至29%，该值显著大于（<0.05）我们在一般人群样本中测得的值。值得注意的是，随着我们远离视神经乳头，家族相似性逐渐丧失。
亲属似乎共享相似的视神经乳头RBVA模式，这表明视神经乳头RBVA可能作为一种家族特征进行遗传传递。视网膜周边血管的排列会产生个体差异。
我们的结果表明存在一种特定的、可重复的和可传递的视网膜标识符，这一特征可能与特定疾病过程的患病率相关，从而有可能在给定视网膜病变临床表现之前很久就识别出来，并因此优化其管理。
