|Title||X-LINKED CONE ROD DYSTROPHY MASQUERADING AS MYOPIC MACULOPTHY|
|Author, Co-Author||Shital Mani, Jerome Sherman|
|Abstract|| BACKGROUND: X-linked cone rod dystrophy is a disease, which primarily
affects the cone photoreceptors. Affected individuals have a progressive
loss of visual acuity, moderate to high myopia, photophobia, impaired
color vision, and deterioration of the electroretinogram. The macular
lesions seen in cone rod dystrophy may look similar to macular
degeneration presenting with geographic atrophy or chorioretinal atrophy
secondary to myopic degeneration. An electroretinogram is an essential
tool in making a firm diagnosis.
CASE REPORT(S): A 62-year-old white male presented to our clinic with chief
complaints of extreme photophobia and better vision at night than during
the day. A family pedigree revealed an X-linked inheritance pattern with 3 other males affected with this condition. His medical history was positive for Horner’s syndrome secondary to a lung tumor, which had since been resected. BCVA was measured to be20/160 OD and OS. Dilated fundus exam revealed macular pigmentary changes with an area of atrophy in both eyes. He was being followed routinely for what was thought to be either dry macular degeneration or myopic
maculopathy. Due to his chief complaints, an electroretinogram was
performed, which revealed an essentially flat photopic response and a
scotopic response which was reduced in amplitude with a delayed implicit time.
CONCLUSIONS: The macular lesions in cone rod dystrophy can masquerade as
macular degeneration or myopic maculopthy. It is the prudent clinican
who, with a detailed patient history as well as with adequate tests, will
be able to make a definitive diagnosis. The importance of an
electroretinogram in such cases is immeasurable.
|Affiliation of Co-Authors||State University of New York, College of Optometry|