Miscellaneous rare macular dystrophies
Fischer MD., Boon CJF.
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.