Abstract
A 13-year-old girl with a history of nystagmus from 4 to 18 months of age developed intense photophobia. Examination showed poor vision (0.8 logarithm of the minimum angle of resolution in both eyes). Fundus photographs (A, B), autofluorescence imaging (C), and spectral domain OCT (D) showed stable, deep, coloboma-like central macular lesions in both eyes. We observed absent cone responses but normal rod responses on full-field electroretinogram. Molecular genetic testing detected a pathogenic c.1561C>T (p.Gln521∗) homozygous mutation in the exon 13 of ATF6. The presence of clinically extended lesions of the macula, usually a sign of cone-rod dystrophies when not postinfectious, does not always preclude the diagnosis of achromatopsia (Magnified version of Figure A-D is available online at www.aaojournal.org).
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
