OPT313 Hereditary Macular Disorders 2

Macular Dystrophy

An inherited condition characterized by progressive deterioration or structural alteration of the macula, often caused by faulty genes.

Dystrophy

Any various unrelated, noninfectious, often genetic disorders characterized by progressive deterioration or structural alteration of a body part.

Autosomal Dominant

A pattern of inheritance in which only one copy of a mutated gene from one parent is sufficient to cause a disorder.

Autosomal Recessive

A pattern of inheritance in which two copies of a mutated gene, one from each parent, are necessary to cause a disorder.

Central Vision Loss

A condition where the ability to see fine detail in the central field of vision is impaired.

Photophobia

An abnormal sensitivity to light, often causing discomfort or pain in bright light.

Visual Acuity

The clarity or sharpness of vision, typically measured using a standard eye chart.

OCT (Optical Coherence Tomography)

A non-invasive imaging test that uses light waves to take cross-section pictures of the retina.

Referrals

The process of sending a patient to a specialist for further evaluation or treatment.

Prognosis

The likely course or outcome of a medical condition, including the chances of recovery or deterioration.

Stargardt's Dystrophy

The most common form of hereditary macular dystrophy, leading to progressive vision loss, often beginning in childhood or adolescence.

Cone Dystrophy

A range of inherited retinal disorders characterized by loss of cone photoreceptors, affecting color vision and visual acuity.

Best's Dystrophy

A genetic condition causing progressive vision impairment due to accumulation of waste products in the retinal pigment epithelium.

ERG (Electroretinography)

A diagnostic test that measures the electrical activity of the retina in response to light.

Genetics Testing

Tests performed to identify genetic disorders and determine inheritance patterns.

Hypo-autofluorescence

A reduction in autofluorescence signal indicative of retinal degeneration.

Hyper-autofluorescence

An increase in autofluorescence signal often associated with retinal lesions.

Clinical Signs

Physical indications of a disease that can be observed during a clinical examination.

Macular Clinic

A specialized medical facility focusing on the diagnosis and treatment of macular disorders.