List of genes included in the custom glaucoma panel designed.

List of genes included in the custom glaucoma panel designed.</p

Clinical characteristics of patients and variants detected in this study.

Clinical characteristics of patients and variants detected in this study.</p

Fig 2 -

Pedigrees of patients in whom the p.Y81N variant in the CYP1B1 gene was detected in the NGS study: patient 1 (left) and patient 2 (right). Arrows indicate the index case. Black symbols indicate glaucoma phenotypes, and carriers of the variant are indicated by black dots in the symbols. wt: wild-type allele.</p

Primers designed to amplify coding region of the <i>CYP1B1</i> gene.

Primers designed to amplify coding region of the CYP1B1 gene.</p

Clinical data of patients studied by NGS and Sanger sequencing.

Clinical data of patients studied by NGS and Sanger sequencing.</p

Ophthalmologic studies in patients 4 and 5 (siblings) with the variant p.T436M in the <i>CARD10</i> gene.

A: Optomap image of ocular fundus of the patient 4 showing macular whitening and a myriad of splinter retinal hemorrhages and venous tortuosity secondary to central retinal vein occlusion with cilioretinal artery occlusion in the right eye. B: Funduscopic image of the left eye of the patient 4 showing severe optic disk cupping in the context of advanced glaucoma with pigment dispersion syndrome. C: Optomap image of the right eye fundus of the patient 5 showing mild macular whitening with scant peripheral hemorrhages one month after non-ischemic central retinal vein occlusion associated with cilioretinal artery occlusion in the right eye. D: Retinography of the patient 5 (up) showing severe right optic disk cupping causing advanced visual field constriction seen on perimetry (below).</p

Description and classification of variants detected in this study.

Description and classification of variants detected in this study.</p

Ancillary tests of patient 13.

This figure shows the structural and functional damage of the right (RE) and left eye (LE). The optical coherence tomography shows severe peripapillary retinal nerve fiber layer thinning that correlates with the visual field findings that depicts a marked inferior arcuate scotoma for the RE and tubular island of vision for the LE.</p

Fig 1 -

Comparison of the evolutionary conservation of p.S28W (left) and p.Y81N (right) in the CYP1B1 gene in the reference genome of some organisms.</p