Nekolova Jana, Stepanov Alexandr, Kousal Bohdan, Stredova Marketa, Jiraskova Nada
Department of Ophthalmology, University Hospital Hradec Kralove and Faculty of Medicine in Hradec Kralove, Charles University in Prague, Czech Republic.
Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2022 Dec;166(4):418-427. doi: 10.5507/bp.2021.037. Epub 2021 Jun 22.
We present a familial hereditary macular dystrophy, resembling North Carolina Macular Dystrophy. In members of a family, we describe the development of diagnostic-therapeutic approaches and their impact on the prognosis of those whose vision was affected.
The macular dystrophy of varying degrees of severity was diagnosed in 3 consecutive generations in different family members, both men and women. Modern therapeutic tools were used for the diagnostics. In one patient of the youngest generation, the development of secondary choroidal neovascularization (CNV) was identified and treated with an anti-VEGF (vascular endothelial growth factor) agent. DNA was isolated from venous blood and genome sequencing was performed in a proband.
We analysed the data of 13 members of one family of three consecutive generations. Six of them had macular dystrophy. The first were two of three siblings, a woman (73 years old) and a man (67). The offspring of the afflicted man, a female (36) and a male (80), had maculopathy. The first daughter of the woman (12) revealed findings of maculopathy but with normal electrical activity of the retina. The second girl (18), developed secondary CNV which responded well to intravitreal anti-VEGF treatment. Genetic analysis excluded mutations previously reported to be pathogenic for NCMD.
If there is a maculopathy of unclear etiology in younger patients or in patients with unclear development or appearance, it is advisable to focus carefully on the family history and trace the occurrence of impaired vision in other family members.
我们报告一种类似北卡罗来纳黄斑营养不良的家族性遗传性黄斑营养不良。在一个家族的成员中，我们描述了诊断 - 治疗方法的发展及其对视力受影响者预后的影响。
在不同家族成员的连续三代中诊断出不同严重程度的黄斑营养不良，包括男性和女性。使用现代治疗工具进行诊断。在最年轻一代的一名患者中，发现了继发性脉络膜新生血管（CNV）并使用抗VEGF（血管内皮生长因子）药物进行治疗。从静脉血中分离DNA，并对一名先证者进行基因组测序。
我们分析了一个连续三代家族的13名成员的数据。其中6人患有黄斑营养不良。首先是三个兄弟姐妹中的两人，一名女性（73岁）和一名男性（67岁）。患病男性的后代，一名女性（36岁）和一名男性（80岁），患有黄斑病变。该女性的大女儿（12岁）显示出黄斑病变的迹象，但视网膜电活动正常。二女儿（18岁）发生了继发性CNV，对玻璃体内抗VEGF治疗反应良好。基因分析排除了先前报道的对北卡罗来纳黄斑营养不良致病的突变。
如果年轻患者或病情发展或表现不明确的患者存在病因不明的黄斑病变，建议仔细关注家族史并追踪其他家族成员视力受损的情况。
