北卡罗莱纳州黄斑营养不良(NCMD)的表型是高度可变的,并且仍然缺乏认识和理解。经常在孤立的病例中引起误诊。NCMD的特征之一是尽管其原始名称普遍缺乏进展,“显性进行性中央凹营养不良,“正如Lefler等人(W.H.L.)在1971年报道的那样。这项研究的目的是报告这种情况的长期随访。
系统,纵向,和详细的文档以及周边视网膜的成像。
我们在首次报道30至50年后,在办公室中重新检查了27位患有NCMD的原始家庭成员。
对所有受影响的受试者的评估包括最佳矫正视力(BCVA),裂隙灯和扩大眼底检查,宽视野眼底和自动荧光摄影,和谱域OCT(SDOCT)。收集血液进行DNA提取,banking,和测序。
最佳矫正视力,裂隙灯和扩大眼底检查,宽视野眼底和自动荧光摄影,和SDOCT。
所检查的27名受试者是1971年最初报道的NCMD原始家族的一部分。在所有受影响的受试者中发现了脱氧核糖核酸酶I超敏结合位点的非编码区中的点突变(NC_000006.11:g.100040906G>T)(Hg19)。9名受试者是30至50年前由KentW.Small(K.W.S.)和W.H.L.最初检查的受影响儿童,其余17名受试者(34只眼)在30年前由K.W.S.检查。在这17名受试者(34只眼)中,34只眼睛中有4只(11%)表现出视力恶化和由于脉络膜新生血管膜(CNVM)引起的纤维化证据。27例(51%)患者中有14例出现周边视网膜玻璃疣,这似乎与黄斑疾病的严重程度无关。
大多数NCMD患者一生中都有稳定的视力和眼底发现。BCVA下降的患者是由于CNVM的明显证据。2级NCMD患者似乎由于CNVM而进一步或进行性视力丧失的风险增加。如果及时治疗,使用血管内皮生长因子抑制剂的玻璃体腔治疗可能会使这些患者受益。在略多于一半的受影响受试者中发现了不同程度的周边视网膜玻璃疣。
The phenotype of North Carolina macular dystrophy (NCMD) is highly variable and remains poorly appreciated and understood, often causing misdiagnoses in isolated cases. One of the features of NCMD is the general lack of progression despite its original name, \"dominant progressive foveal dystrophy,\" as reported in 1971 by Lefler et al (W.H.L.). The purpose of this study was to report the long-term follow-up of this condition.
Systematic, longitudinal, and detailed documentation along with the imaging of the peripheral retina.
We reexamined 27 of the original family members with NCMD in an office setting 30 to 50 years after they were first reported.
The evaluation of all the affected subjects included best-corrected visual acuity (BCVA), slit-lamp and dilated-fundus examinations, wide-field fundus and autofluorescent photography, and spectral-domain OCT (SD OCT). Blood was collected for DNA extraction, banking, and sequencing.
Best-corrected visual acuity, slit-lamp and dilated-fundus examinations, wide-field fundus and autofluorescent photography, and SD OCT.
The 27 subjects examined were a part of the original family with NCMD that was initially reported in 1971. A point mutation (NC_000006.11:g.100040906G>T) (Hg19) in a noncoding region of a deoxyribonuclease I hypersensitivity binding site was found in all the affected subjects. Nine subjects were the affected children of those originally examined 30 to 50 years ago by Kent W. Small (K.W.S.) and W.H.L., and the remaining 17 subjects (34 eyes) had been examined 30 years previously by K.W.S. Of these 17 subjects (34 eyes), 4 of 34 (11%) eyes showed worsening of vision and evidence of fibrosis due to choroidal neovascular membranes (CNVMs). Fourteen of the 27 (51%) patients showed peripheral retinal drusen, which did not seem to correlate with the severity of the macular disease.
Most patients with NCMD have stable vision and fundus findings throughout their lives. The ones who experienced BCVA decline did so because of the apparent evidence of CNVMs. Patients with grade 2 NCMD seem to be at an increased risk of further or progressive vision loss due to CNVMs. Intravitreal therapy with vascular endothelial growth factor inhibitors may benefit these patients if they are treated in a timely fashion. Peripheral retina drusen of varying degrees of severity were found in slightly more than half of the affected subjects.