I have a degenerative eye condition. how do I deal?

Question

I am 25 and have Stargardtz. I have lots of questions, but found no answers. Can someone help?

Answer 1

Pray to God and he will help you.

Read the verses from the Holy Bible

Psa 27:7 Hear, O LORD, [when] I cry with my voice: have mercy also upon me, and answer me.

Jam 5:14 Is any sick among you? let him call for the elders of the church; and let them pray over him, anointing him with oil in the name of the Lord:

Jam 5:15 And the prayer of faith shall save the sick, and the Lord shall raise him up; and if he have committed sins, they shall be forgiven him.

Psa 22:11 Be not far from me; for trouble [is] near; for [there is] none to help.

Psa 22:19 But be not thou far from me, O LORD: O my strength, haste thee to help me.

Psa 27:9 Hide not thy face [far] from me; put not thy servant away in anger: thou hast been my help; leave me not, neither forsake me, O God of my salvation.

Psa 60:11 Give us help from trouble: for vain [is] the help of man.

Psa 115:11 Ye that fear the LORD, trust in the LORD: he [is] their help and their shield.

Hope you are cured by Gods grace and love for you.

May God bless you. In Jesus name. Amen.

Answer 2

There are low-vision clinics in most major cities. They have a lot of good information, as does the internet. They can also set you up in a group with people who have similar problems as support.

Answer 3

Stargardt disease (also known as fundus flavimaculatus and Stargardt macular dystrophy) is the most common form of inherited juvenile macular degeneration. Inherited as an autosomal recessive trait, it is a severe form of MD that begins in late childhood, leading to legal blindness. Stargardt disease is symptomatically similar to age-related macular degeneration, and it affects approximately one in 10,000 children.

Stargardt disease is usually diagnosed in individuals under the age of twenty, when decreased central vision is first noticed. It causes a progressive loss of central vision and, in the early stages, patients may have good visual acuity, but they may experience difficulty with reading and seeing in dim lighting. Other common symptoms of Stargardt disease include blurriness and distortion. On examination, the ophthalmological findings vary significantly with the progression of the disease. In fundus photos, patients with early Stargardt disease appear to have simple macular degeneration. Children with the disease typically begin experiencing dark adaptation problems and central vision loss between six and twelve years of age, but symptoms may also first appear in adulthood.

As the disease progresses, lipid rich deposits accumulate in the retinal pigment epithelium (RPE) layer beneath the macula. This "lipofuscin" appears as yellowish-tinted flecks. The RPE is a layer of cells that lies between the retina and the choroid, where it serves the purpose of nourishing the photoreceptor cells. In advanced Stargardt disease, the buildup of lipofuscin causes atrophy of the macula and the underlying RPE. The progression of vision loss is variable and can start with a visual acuity of 20/40 and decrease rapidly (especially in children) to 20/200 (legal blindness). By age 50, approximately 50% of all of those studied in clinical trials had visual acuities of 20/200 to 20/400. In late stages of this disease, there may also be color vision impairment.

Stargardt disease is almost always inherited as an autosomal recessive disorder, with only ten percent of cases resulting from a dominant mode of inheritance. Autosomal recessive means that both parents are carriers, having one gene for the disease paired with one normal gene. As a consequence, each of their children has a 25 percent chance of inheriting the two copies of the Stargardt gene (one from each parent) needed to cause the disease. Carriers are unaffected because they have only one copy. At this time, it is impossible to determine who is a carrier for Stargardt disease until after an affected child is diagnosed.

Stargardt disease is thought to be caused by the accumulation of lipofuscins (waste deposits) in the retina, due to the cells' inability to transport vitamin A from the retinal pigment epithelium (RPE) to the photoreceptor cells. This is a result of a buildup of A2E, a toxic by-product of Vitamin A that is normally released after light exposure during the visual cycle. Dark adaptation, therefore is delayed.

Rhodopsins are disc-shaped molecular structures present in the rod and cone photoreceptor cells. They contain a pigment called retinal (made from vitamin A), which is converted to retinol when a rhodopsin structure is exposed to light. This process causes the rhodopsin to break down, and the resulting waste material is supposed to then be transported to the RPE for recycling.

The gene responsible for the transport of retinol to the RPE is the ABCA4 (formerly ABCR) gene, discovered in 1997. If this gene is defective, transport cannot take place, and the waste remains in the photoreceptor tissue, where the toxic A2E poisons the healthy cells.

A recent study ("Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt macular degeneration" by Roxana A. Radu, Nathan L. Mata, Aarti Bagla, and Gabriel H. Travis. Jules Stein Eye Institute and Department of Biological Chemistry, School of Medicine, University of California, Los Angeles) showed that the formation of A2E is strongly suppressed by treating the ABCR mice with Accutane (isotretinoin), an inhibitor of rhodopsin regeneration. And now, fenretinide is showing promising results as another type of A2E suppressor.

Current research also shows that patients with Stargardt disease could slow its progression by wearing UV-protective sunglasses and avoiding exposure to bright light. Researchers have observed that mice which had a mutation of the ABCA4 gene, and which were reared in dark environments had virtually no lipofuscin deposits.

The disease is often misdiagnosed, or not diagnosed in the first few years of onset, and this could be the result of little evidence being found during eye examinations. The discovery of the Stargardt gene could help in a test for the direct diagnosis of the disease. It is possible that the effect of this newly discovered gene may not be limited only to juvenile MD, in that it could also aid in the search for causes for age-related macular degeneration, the leading cause of vision loss in people over age 65.

Currently, there is no effective treatment for Stargardt disease, but having the genetic "instruction manual" may assist in developing new strategies for therapy. It is also important that the learning and working environment be adapted for people with Stargardt disease. Appropriate low vision aids and lighting are two important considerations for helping both children and adults to function as normally as possible.