Retinal structure, function, and molecular pathologic features in gyrate atrophy.

Purpose: To describe phenotypic variability and to report novel mutational data in patients with gyrate atrophy.

Design: Retrospective case series.

Participants: Seven unrelated patients (10 to 52 years of age) with clinical and biochemical evidence of gyrate atrophy.

A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.

Purpose: Mutations of C2ORF71 have recently been reported to be associated with autosomal recessive (AR) retinitis pigmentosa (RP) in humans and with visual defects in zebrafish. C2ORF71 is located on 2p23.2 and encodes a 1288-amino-acid protein of unknown function, predominately expressed in the photoreceptors.