Mutations in AGBL5 associated with Retinitis pigmentosa

ABSTRACT

Background

Retinitis pigmentosa (RP) is the leading cause of heritable retinal visual impairment. Clinically, it is characterized by a variable onset of progressive night blindness and visual field constriction. RP is characterized by wide genetic heterogeneity with a broad range of potential genes involved in the genesis of this disease. Very few cases have been reported of RP due to pathogenic variants in AGBL5.

Materials and Methods

We report two patients with RP and bilallelic pathogenic variants in AGBL5.

Results

Genetic sequencing showed one homozygous AGBL5 missense variant in one patient and a homozygous nonsense variant in the other. These patients presented with progressive peripheral vision loss and nyctalopia. Their RP phenotypes were similar to previous reports in literature.

Conclusion

These two cases provide further evidence regarding the relationship of pathogenic variants in AGBL5 as a cause of autosomal recessive RP.

KEYWORDS:

• Retinitis pigmentosa
• AGBL5
• ciliopathy
• inherited retinal disease

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

This work was funded in part by the Adeline Lutz - Steven S.T. Ching, M.D. Distinguished Professorship in Ophthalmology (AVL), and an unrestricted grant from Research to Prevent Blindness to the Department of Ophthalmology at the University of Rochester (AVL).