Abnormal foveal morphology in carriers of oculocutaneous albinism.
Abnormal foveal morphology in carriers of oculocutaneous albinism.
复制标题
DOI：
10.1136/bjophthalmol-2020-318192
复制
发表时间：
2023-08
影响因子：
4.1
通讯作者：
Gottlob, Irene
中科院分区：
文献类型：
--
作者：
Kuht, Helen J.;Thomas, Mervyn G.;McLean, Rebecca J.;Sheth, Viral;Proudlock, Frank A.;Gottlob, Irene
目的应用光谱域光学相干断层扫描(SD-OCT)研究眼皮肤白化病(OCA)携带者的黄斑中心凹形态。一项横断面的观察性研究。使用手持SD-OCT(Envisu C2300)对28例OCA患者的亲生父母(n=28，平均年龄±SD=40.43±8.07岁)和28例年龄匹配、种族匹配的对照组(n=28，平均年龄±SD=38.04±10.27岁)进行黄斑中心凹中心的水平扫描。对与OCA相关的已知基因的变异进行了序列分析。测量最佳矫正视力(BCVA)、中心凹发育不良及分级、中心凹、中心凹旁及中心凹周围厚度，测量视网膜总层(TRL)、视网膜内层(IRL)及视网膜外层(ORL)厚度。黄斑中心凹发育不良在32.14%的OCA携带者中被发现，所有病例均为1级。与对照组相比，黄斑中心凹视网膜中央层厚度(中位数差值：13.46 µm，p=0.009)和虹膜厚度(中位数差值：8.98 µm，p=0.001)明显增厚。携带者的近视视力在−0.16~0.18logMAR之间，平均0.0logMAR。OCA携带者和对照组之间的BCVA差异无统计学意义(p=0.83)。在OCA携带者中，我们鉴定了以前报道的TYR、OCA2和SLC45A2的致病变异，新的OCA2变异(n=3)和致病TYR单倍型的杂合性。我们首次在OCA携带者中发现了黄斑中心凹异常。这提供了临床价值，特别是在表型数据有限的情况下。我们的发现提出了一种可能性，即以前报道的黄斑中心凹发育不良或孤立的黄斑中心凹发育不良的轻微病例可能对应于OCA携带者状态。
To investigate the foveal morphology in carriers of oculocutaneous albinism (OCA) using spectral domain optical coherence tomography (SD-OCT). A cross-sectional, observational study. Handheld SD-OCT (Envisu C2300) was used to acquire horizontal scans through the centre of the fovea in biological parents of patients with OCA (n=28; mean age±SD=40.43±8.07 years) and age-matched and ethnicity-matched controls (n=28; mean age±SD=38.04±10.27 years). Sequence analysis was performed for variants in known genes associated with OCA. Best-corrected visual acuity (BCVA), presence of foveal hypoplasia and grade, foveal, parafoveal and perifoveal thickness measurements of total retinal layers (TRL), inner retinal layers (IRL) and outer retinal layers (ORL) thickness were measured. Foveal hypoplasia was identified in 32.14% of OCA carriers; grade 1 in all cases. OCA carriers demonstrated significant thicker TRL thickness (median difference: 13.46 µm, p=0.009) and IRL thickness (mean difference: 8.98 µm, p<0.001) at the central fovea compared with controls. BCVA of carriers was between −0.16 and 0.18 logMAR (mean: 0.0 logMAR). No significant differences in BCVA was noted between OCA carriers or controls (p=0.83). In the OCA carriers, we identified previously reported pathogenic variants in TYR, OCA2 and SLC45A2, novel OCA2 variants (n=3) and heterozygosity of the pathogenic TYR haplotype. We have, for the first time, identified foveal abnormalities in OCA carriers. This provides clinical value, particularly in cases where limited phenotype data are available. Our findings raise the possibility that previously reported mild cases of foveal hypoplasia or isolated foveal hypoplasia could correspond to OCA carrier status.
登录
查看更多内容
影响因子：
56.9
作者：
KORNER, A;PAWELEK, J
通讯作者：
PAWELEK, J
影响因子：
13.7
作者：
Kruijt, Charlotte C.;de Wit, Gerard C.;van Genderen, Maria M.
通讯作者：
van Genderen, Maria M.
影响因子：
3.5
作者：
Kuht HJ;Han J;Maconachie GDE;Park SE;Lee ST;McLean R;Sheth V;Hisaund M;Dawar B;Sylvius N;Mahmood U;Proudlock FA;Gottlob I;Lim HT;Thomas MG
通讯作者：
Thomas MG
影响因子：
4.1
作者：
CHARLES, SJ;MOORE, AT;YATES, JRW
通讯作者：
YATES, JRW
影响因子：
--
作者：
Cox, GF;Hansen, RM;Fulton, AB
通讯作者：
Fulton, AB