These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Atypical choroideremia presenting with early-onset macular atrophy.
    Author: Kontos G, Kwan J, Xue K, Patrício MI, Clouston P, Packham E, MacLaren RE, Downes SM.
    Journal: Acta Ophthalmol; 2019 Sep; 97(6):633-636. PubMed ID: 30690895.
    Abstract:
    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.
    [Abstract] [Full Text] [Related] [New Search]