A previously undescribed autosomal recessive retinal dystrophy

Abstract

Abstract Purpose: To report a previously undescribed autosomal recessive retinal dystrophy Methods: Seven patients from five families in two countries were ascertained with progressive visual loss and punctate retinal flecks. All patients received full ophthalmic examination, ERGs, PERG, EOG and fundus autofluorescence imaging, and gave DNA for mutational screening. They had previously received a variety of diagnoses, including “Goldmann‐Favre syndrome”, “fundus flavimaculatus” and “unrecognised dystrophy”. Results: All patients had reduced visual acuity, were hyperopic and had irregularity of the RPE reflex with widespread subretinal deposits. A maculopathy was associated with intra‐retinal or subretinal fluid in four cases. Autofluorescence imaging was particularly useful in demonstrating these signs. Angle‐closure glaucoma was present in two cases. All patients had abnormality of both rod and cone full‐field ERG responses, with delay in the cone flicker ERG. All had abnormal EOG light‐rise. Progression in ERG abnormality was documented in three families. The results of genetic analysis will be discussed. Conclusions: A novel retinal disorder is described. The distinctive clinical and electrophysiological features enable directed mutational screening.