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…
OPHTHALMOLOGY
Optic Nerve Hypoplasia
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…
Leber Congenital Amaurosis
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 and Other ABCA4 Retinopathies
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…
Primary Congenital Glaucoma and Juvenile Open Angle Glaucoma
Primary congenital glaucoma (PCG) is a potentially blinding disease characterized by elevated intraocular pressure (IOP) due to dysgenesis of the trabecular meshwork. If left untreated, it leads to optic neuropathy…
Basic Genetics
What is DNA? Deoxyribonucleic acid (DNA) is the basic blueprint for the creation and functioning of an organism. DNA is made up of the nucleotides adenine (A), guanine (G), cytosine…
