Best Vitelliform Macular Dystrophy (Best Disease)
Best vitelliform macular dystrophy (VMD) is an autosomal dominant (AD) macular dystrophy defined by the early central macular egg yolk–like (vitelliform) lesions, which then progress over time (▶ Fig. 24.1)….
Corneal Dystrophies
Corneal dystrophies are a group of inherited disorders characterized by loss of corneal transparency that affect different layers of the cornea. They are typically bilateral although onset may be sequential…
Juvenile X-Linked Retinoschisis
Juvenile X-linked retinoschisis (JXLR) is an X-linked recessive (XLr) disorder with an estimated prevalence from 1:5,000 to 1:25,000. JXLR has complete penetrance and variable expressivity. JXLR is variable among family…
Inheritance Patterns
Autosomal Recessive Inheritance If a phenotype is only manifest when both copies of an autosomal gene are abnormal, then the condition is called autosomal recessive. Females and males are affected…
