两例新型杂合KIF11突变患者的下部门性脉络膜视网膜病变

IF 1.2 4区医学 Q4 GENETICS & HEREDITY Ophthalmic Genetics Pub Date : 2025-01-13 DOI:10.1080/13816810.2025.2450456

Amit V Mishra, Rosanna Martens, Carolin Aizouki, Alina Radziwon, Ian M MacDonald

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引用次数: 0

摘要

背景：驱动蛋白家族基因KIF11的致病性变异可导致MCLMR和出血热。在MCLMR中，绒毛膜视网膜萎缩存在于大多数病例中，可以作为一个有用的诊断征象。病例：我们提出了两例携带新型KIF11突变的绒毛膜视网膜萎缩和小头畸形患者。两例患者均有较好的中央视力，类似视网膜萎缩下腔隙，中央凹中心相对保留。结论：两例典型的MCLMR患者有中央凹保留，扩大了相关的眼部表现。

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Inferior sectoral chorioretinopathy in two patients with novel heterozygous KIF11 mutations.

Background: Pathogenic variants in KIF11, a kinesin family gene, cause MCLMR and FEVR. In MCLMR, chorioretinal atrophy is present in the majority of cases and can be a helpful diagnostic sign.

Cases: We present the cases of two patients with chorioretinal atrophy and microcephaly who carry novel KIF11 mutations. Both patients have relatively good central vision similar inferior lacunae of retinal atrophy with relative sparing of the foveal center with.

Conclusion: Two cases with classic features of MCLMR have foveal sparing that expands the associated spectrum of ocular findings.

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来源期刊

Ophthalmic Genetics 医学-眼科学

CiteScore

2.40

自引率

8.30%

发文量

126

审稿时长

>12 weeks

期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.