What is malattia Leventinese?
Malattia leventinese: An hereditary form of macular degeneration that results in progressive and irreversible visual loss. This disease is characterized by the appearance in early adulthood of small round white spots (drusen), particularly in the macula of the retina, which progress to form a honeycomb pattern.
Why do I see a honeycomb pattern when I wake up?
These are caused by drusen forming near the macula, and at the point where the optic nerve enters the eye. They start small and gradually grow together, forming a honeycomb pattern. It usually develops in early-to-mid adulthood, although occasionally teenagers are affected.
What is dominant drusen?
Dominant drusen is an inherited autosomal-dominant condition that presents with small, round, yellowish- white multiple retinal drusen. They form into a honeycomb pattern in the area of the macula and nasal to the optic disc.
What is retinal dystrophy?
Retinal dystrophies (RDs) are degenerative diseases of the retina which have marked clinical and genetic heterogeneity. Common presentations among these disorders include night or colour blindness, tunnel vision and subsequent progression to complete blindness.
What is the best disease?
Best disease is a type of macular dystrophy and is also called “Best vitelliform macular dystrophy”. Macular dystrophies are inherited eye conditions meaning they are caused by a fault in a gene. Best disease can affect both men and women.
What is drusen?
Drusen are small, yellowish deposits of cellular debris that accumulate under the retina — the light-sensitive layer of cells at the back of the eye that’s essential to vision. Drusen occur in most people over age 60 and are more common in women than men.
Why do I see Honeycomb?
DHRD is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium (a layer of cells deep in the retina that helps maintain the function of the photoreceptor cells). Over time, drusen may enlarge and come together, creating a honeycomb pattern.
What is the cause of drusen?
Drusen is a German word that means “rock” or “geode.” They are like tiny pebbles of debris under the retina. The cause of the drusen deposits is related to a type of “garbage” disposal problem. Retinal cells dump unwanted material, and immune cells normally clean up most of it.
What is the most common retinal dystrophy?
Retinitis pigmentosa is the most common retinal dystrophy affecting 1 in 3,000 individuals.
Is there a treatment for retinal dystrophy?
There is currently no cure for RP, and no proven treatments are available to slow the progression of the disease.
How does malattia leventinese lead to vision loss?
As the degeneration progresses, however, confluence of drusen and RPE atrophy can lead to further visual loss. Some patients may develop CNVM which can dramatically decrease vision. Figure 6: An example of extramacular and nasal drusen (black arrow) in another patient with confirmed Malattia Leventinese (EFEMP1).
Can a malattia leventinese be an autosomal dominant drusen?
Most ophthalmologists now accept the two entities as the same malady. There are other cases of what are currently simply called “familial drusen” for which the inheritance pattern is not defined, but Malattia Leventinese is a defined entity which is inherited in an autosomal dominant pattern.
How often should malattia leventinese patients be evaluated?
Because of the potential risk for further degeneration or the small possibility of developing choroidal neovascular membranes (CNVM), the patient was instructed in the use of an Amsler grid and scheduled to return for repeat evaluation every 1-2 years (or sooner, if there were any change in her symptoms).
What is the EFEMP1 gene for malattia leventinese?
This gene is also known as the epidermal growth factor (EGF)-containing fibrillin-like extracellular matrix protein-1 (EFEMP1). With this confirmed information, the patient was able to receive precise genetic counseling for the potential risks her two sons and other future progeny may face for Malattia Leventinese.