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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.

Original publication





Book title

Macular Dystrophies

Publication Date



83 - 100