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 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 (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…
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…
Optic nerve hypoplasia (ONH) is the most frequent optic nerve head anomaly. It is a unilateral or bilateral congenital, nonprogressive developmental abnormality. The clinical presentation is extremely variable. A “double-ring…
The diagnosis of Leber congenital amaurosis (LCA) typically involves two major criteria: severe visual impairment in early infancy and severely affected electroretinogram (ERG). Other clinical findings that may be seen…
Stargardt Disease Overview Stargardt disease (SGD) is the most frequent childhood recessively inherited macular dystrophy. Most patients present with central visual loss in the early teenage years and ophthalmoscopy classically…
