X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon
J. R. Heckenlively and R. G. Weleber
We encountered a new X-linked recessive cone dystrophy in which patients
have a greenish-golden tapetal-like sheen of the retina; while the retinal
sheen and electroretinographic abnormalities are present from childhood,
patients are not symptomatic until adult years. All of the male patients
tested showed evidence of cone dysfunction on color vision testing, dark
adaptometry, and electroretinography. After three hours of dark adaptation,
the tapetal-like sheen disappeared, with most areas changing from
greenish-golden shades to orange-red hues (Mizuo-Nakamura phenomenon). One
male patient had a retinal detachment from atrophic round holes in the
equatorial retina.
