Introduction

Cone dystrophy is a general term for a group of rare eye disorders that affect the cone cells of the retina. Cone cells allow a person to see color and fine detail, and they work best in bright light. The cone dystrophies can cause a variety of symptoms such as decreased visual clarity when looking straight ahead, a reduced ability to see colors, and an increased sensitivity to light. There are two main subtypes of cone dystrophy, called stationary cone dystrophy and progressive cone dystrophy.

The age when symptoms begin, the type and severity of symptoms and the progression of symptoms are all very different between individuals, even between people with the same type of cone dystrophy. Mutations in many genes have been found to cause cone dystrophy, and the condition can be inherited in an autosomal dominant, autosomal recessive or x-linked manner.

Signs and Symptoms

The symptoms of cone dystrophy may vary from one person to another, even among individuals with the same form of the disorder. The age of onset, specific symptoms, severity, and progression (if any) can vary greatly. The amount of vision loss varies and is difficult to predict. Affected individuals should talk to their physician and medical team about their specific case and associated symptoms.

Cone dystrophy results from damage to the cone cells of the retinas. The retinas are the thin layers of nerve cells that line that inner surface of the back of the eyes. The retinas sense light and convert it to nerve signals, which are then relayed to the brain through the optic nerve. The retina has two main types of cells – cones and rods. Cone and rod cells are called photoreceptors because they detect and respond to light stimulus.

Cone dystrophy is sometimes broken down into two broad groups – stationary and progressive. Stationary cone dystrophy is usually present during infancy or early childhood, and symptoms usually remain the same throughout life. In progressive cone dystrophy, associated symptoms become worse over time. The rate of progression and age of onset, however, can vary greatly from one person to another. Progressive cone dystrophy usually develops in late childhood or early during adulthood.

Causes of Cone dystrophy

Many cases of cone dystrophy occur randomly for no identifiable reason (sporadically). Some forms are inherited as an autosomal dominant, autosomal recessive or X-linked recessive trait. Inherited forms of cone dystrophy are due to mutations to one of several different genes that have been linked to cone dystrophy. These genes contain instructions for making certain proteins, specifically proteins that play vital roles in the development, function or overall health of cone cells. The exact, underlying mechanisms that cause cone dystrophy are not fully understood.

Mutated genes in cone dystrophy can be inherited as an autosomal dominant, autosomal recessive or X-linked recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

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The Ophthalmologist: Clinical and Therapeutic Journal
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