Related Experiment Video
Updated: May 13, 2026
Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations
Published on: August 24, 2018
Retinitis pigmentosa and granular dystrophy: a rare and unique combination in one patient
Objective:
To present a case of concurrent diagnoses, Retinitis Pigmentosa and Granular Corneal Dystrophy, discovered in one patient experiencing progressive vision loss.
Methods:
In this case report we studied fundus photographs, anterior segment photographs, Goldman visual field, and electroretinography.
Results:
Exam findings on presentation: A 58-year-old Korean female with bilateral crumb-like corneal stromal deposits, waxy pallor of the disc, attenuated vessels and bone spicules. Visual field deficit, ERG and clinical evaluation supports a final diagnosis of both Retinitis Pigmentosa and Granular Corneal Dystrophy.
Conclusion:
The presentation of both Retinitis Pigmentosa and Granular Corneal Dystrophy is a rare combination of vision loss. While both conditions are autosomal dominant and thus not, per se, extremely rare, they have not been documented to both contribute to vision loss in one patient.
