@inbook{656c875c5c464023ab3f0c4514d8bd13,
title = "Miscellaneous rare macular dystrophies",
abstract = "There are several very rare macular dystrophies that do not fall into the categories described elsewhere in this atlas. One of those, central areolar choroidal dystrophy (CACD) generally is a purely macular dystrophy caused by dominantly inherited PRPH2 gene mutations. Dominant cystoid macular dystrophy is an intriguing progressive retinal dystrophy that presents with early-onset cystoid fluid collections in the macula as characteristic and primary clinical feature. Juvenile macular dystrophy and hypotrichosis due to recessive CDH3 mutations combines a cone-rod dystrophy macular phenotype with general ectodermal changes such as abnormal hair growth, digital changes, and partial anodontia. The autosomal-dominant late-onset retinal degeneration (L-ORD), caused by C1QTNF5 gene mutations, shows typical retinal abnormalities that can extend beyond the macula, and patients can report night blindness in addition to central vision loss. Interestingly, L-ORD patients can have long anteriorly inserted lens zonules and loss of iris pigment.",
author = "Fischer, {M. Dominik} and Boon, {Camiel J. F.}",
year = "2016",
month = jan,
day = "1",
doi = "https://doi.org/10.1007/978-3-319-26621-3_10",
language = "English",
isbn = "9783319266190",
series = "Macular Dystrophies",
publisher = "Springer International Publishing",
pages = "83--100",
booktitle = "Macular Dystrophies",
}