A Homozygous Frameshift Mutation in LRAT Causes Retinitis Punctata Albescens

Ophthalmology, 05/10/2012

A genetic defect was identified in LRAT as a novel cause of retinitis punctata albescens. LRAT is therefore the fourth gene involved in the visual cycle that may cause a white–dot retinopathy. The authors also revealed that mutations in RLBP1 may lead to fundus albipunctatus with cone dystrophy.

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