A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review.

BACKGROUND

Pierson syndrome and X-linked Alport syndrome result from pathogenic variants in and , respectively, and both affect basement membranes in the kidney and the eye. This study describes the ocular features in an individual with a homozygous pathogenic variant and compares the reported abnormalities in Pierson syndrome with those in Alport syndrome.

METHODS

A 28-year-old man who developed kidney failure 10 years previously and subsequently had an atrial septal defect repair was suspected of having genetic kidney disease on the basis of his likely diagnosis of Focal and Segmental Glomerulosclerosis (FSGS), his young age at presentation, and his cardiac anomaly. He then underwent Whole Exome Sequencing and a formal ophthalmological examination.

RESULTS

The patient was found to have a homozygous Likely Pathogenic missense variant (p.(Arg1719Cys)) in consistent with the diagnosis of Pierson syndrome. He had normal visual acuity, normal optic globe and cornea size, and normal lens appearance on direct examination. Upon further testing, his cornea demonstrated central thinning. There was also increased corneal endothelial pleomorphism, a reduced foveal reflex, and a blunted foveal curvature, similar to the features seen in X-linked Alport syndrome.

CONCLUSION

Our patient had a later onset form of Pierson syndrome or "FSGS type 5, with or without ocular abnormalities," consistent with his "milder" missense variant. The resemblance of the ocular features in Pierson syndrome and X-linked Alport syndrome suggests that mutations in and have similar effects on basement membranes and the pathogenesis of ocular damage.