Choroideremia is an X-linked recessive retinal degeneration predominantly affecting hemizygous males. It is caused by mutations in the CHM gene that encodes the Rab escort protein-1. Characteristic features include early nyctalopia followed by progressive constriction of peripheral visual fields and sparing of the central vision until late in life with a distinct fundoscopic appearance. We present the case of a 17-year-old male with a c.282delT in exon 4 of CHM that has not previously been reported. Phenotypically this patient presented with an atypical choroideremia phenotype of early central macular degeneration in addition to the classic peripheral fundus characteristic findings.
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CHM , Rab escort protein-1, choroideremia, inherited retinal degeneration, Adaptor Proteins, Signal Transducing, Adolescent, Choroid, Choroideremia, DNA, Diagnosis, Differential, Humans, Male, Mutation, Pedigree, Phenotype, Retinal Degeneration, Tomography, Optical, Tomography, Optical Coherence, Visual Acuity