SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.

ABSTRACT:

Background

SPATA7 mutations have been associated with different autosomal recessive retinal degeneration phenotypes. Long-term follow-up has not been described in detail.

Materials and methods

A Hispanic patient with SPATA7 mutations was evaluated serially over a 12-year period with kinetic and static chromatic perimetry, optical coherence tomography (OCT), and fundus autofluorescence (AF) imaging. Electroretinography (ERG) was performed at the initial visit.

Results

The patient was homozygous for a mutation in SPATA7 (p.V458fs). At age 9, the ERG showed an abnormally reduced but preserved rod b-wave and no detectable cone signals. There were two islands of vision: a midperipheral island with greater cone than rod dysfunction and a central island with normal cone but

SUBMITTER: Matsui R 

PROVIDER: S-EPMC4988809 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature