Abstract
Purpose :
Mutations of the G-protein coupled receptor 143 (GPR143) gene may result in Ocular albinism type I (OA1).In this study, we describe the clinical features and investigate the GPR143 gene mutations in six Chinese families with OA1, and evaluate the thickness changes of iris for the affected males and female carriers
Methods :
Families were ascertained and patients underwent complete ophthalmological examinations, including the best corrected visual acuities, anterior segment of the eyes, vitreous and fundus changes. Spectral domain optical coherence tomography (SD-OCT) was used to measure the thickness of the full layers of iris, the stroma/anterior border (SAB) layer, and the posterior epithelial layer (PEL) at the pupilary and ciliary regions. DNA was extracted from the peripheral blood vessels after confirmed consent information. GPR143 gene was directly sequenced by the Sanger method
Results :
The affected males have variable reduced visual acuity, nystagmus and macular hypoplasia. Four novel frameshift mutations and two previously reported missense/nonsense mutations in the GPR143 gene were detected in these families. The thickness of the full layers, the PEL and the SAB layers are significantly reduced at the ciliary region in the affected males and the female carriers, compared with that in the normal controls
Conclusions :
Mutations in the GPR143 gene may disturb the normal melanogenesis in the pigmented tissues of the eye, result in macular hypoplasia, and alter the thickness of the iris
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.