Madeira Carolina, Godinho Gonçalo, Grangeia Ana, Falcão Manuel, Silva Renato, Carneiro Ângela, Brandão Elisete, Magalhães Augusto, Falcão-Reis Fernando, Estrela-Silva Sérgio
Department of Ophthalmology, Centro Hospitalar e Universitário de São João Hospital, Porto, Portugal.
Department of Genetics, Centro Hospitalar e Universitário de São João Hospital, Porto, Portugal.
Case Rep Ophthalmol. 2021 Sep 9;12(3):749-760. doi: 10.1159/000512284. eCollection 2021 Sep-Dec.
We report the clinical phenotype and genetic findings of two variants in PDE6C underlying achromatopsia (ACHM). Four patients with the variant c.1670G>A in exon 13 of the PDE6C gene were identified. Additionally, one had compound heterozygous genotype, with two variants in the gene, a variant of c.2192G>A in exon 18 and c.1670G>A in exon 13. All patients presented the symptomatic triad of decreased visual acuity, severe photophobia, and colour vision disturbances. SD-OCT showed an absence of the ellipsoid zone, creating an optically empty cavity at the fovea in three patients. The patient with the compound heterozygous genotype presented a more severe subfoveal outer retina atrophy. ERG recordings showed extinguished responses under photopic and 30-Hz flicker stimulation, with a normal rod response. We identified two new variants in the gene that leads to ACHM.
我们报告了导致全色盲（ACHM）的PDE6C基因中两个变异的临床表型和基因研究结果。鉴定出4例PDE6C基因第13外显子c.1670G>A变异的患者。此外，1例为复合杂合基因型，该基因中有两个变异，第18外显子的c.2192G>A变异和第13外显子的c.1670G>A变异。所有患者均表现出视力下降、严重畏光和色觉障碍的症状三联征。频域光学相干断层扫描（SD-OCT）显示3例患者的椭圆体带缺失，在中央凹处形成一个光学空洞。具有复合杂合基因型的患者中央凹下视网膜外层萎缩更严重。视网膜电图（ERG）记录显示，在明视和30Hz闪烁刺激下反应消失，而视杆反应正常。我们在该基因中鉴定出两个导致ACHM的新变异。
