C1QTNF5 missense variant causing autosomal dominant gyrate atrophy-like choroidal dystrophy

It was recently proposed that the c.538C>G; p.(Q180E) missense variant in the C1QTNF5 gene leads to autosomal dominant gyrate atrophy-like choroidal dystrophy (adGALCD). AdGALCD has a phenotypic overlap with other chorioretinal dystrophies but exhibits not the typical characteristics of late-onset retinal degeneration (L-ORD). Here, we report a 70-year-old female simplex patient with adGALCD.

Comprehensive ophthalmic examinations included visual field testing and multimodal retinal imaging with optical coherence tomography (OCT), short-wavelength-, and near-infrared fundus autofluorescence. Genetic testing was performed using whole exome sequencing.

The patient presented with bilateral progressive concentric visual field defects and photophobia for about 8 years. Best corrected visual acuity was 20/40 in the right and 20/32 in the left eye, respectively. On fundus examination, symmetric areas of large peripheral and peripapillary chorioretinal atrophy with foveal sparing were observed with corresponding visual field defects. Fundus autofluorescence imaging showed a central island of preserved autofluorescence surrounded by an extinguished signal in the atrophic areas. OCT imaging showed preserved central retinal pigment epithelium and ellipsoid zone with peripapillary and peripheral atrophy of both layers. Genetic testing revealed a heterozygous missense variant p.(Q180E) in the C1QTNF5 gene.

We confirm that the c.538C>G; p.(Q180E) missense variant in the C1QTNF5 gene may lead to adGALCD.