The clinical presentation of Stargardt macular degeneration (STGD) stems from the accumulation of lipofuscin in the retina and its progressive atrophy, occurring on the grounds of genetic mutations involving substances responsible for retinoid transport away from the outer segments of rods, one of the two types of cells essential for vision [1] [2] [3]. Unlike age-related macular degeneration (AMD), when symptoms are seen after 60 years of age, the onset of progressive central visual loss during the second and third decade of life is the distinguishing feature of SMD [1] [2] [4]. Furthermore, a delay in adaptation to dark (presumably due to atrophy of photoreceptors, in addition to lipofuscin accumulations) is frequently observed [3]. On the basis of patterns of inheritance, STGD can be divided into autosomal recessive (STGD1), which is more common, and autosomal dominant forms (STGD3, or Stargardt-like macular degeneration and STGD4) that can be suspected when a delayed loss of central vision at any point between the second and fifth decades is seen [1] [2] [5]. Gradual loss of visual acuity often leads to blindness, like in other macular dystrophies, but abnormalities of color vision are minimal or absent in STGD, which may be used as an important distinguishing feature [1].

• Fishing

  Nutraceuticals, LLC Composition and method to alleviate joint pain using a mixture of fish oil and fish oil derived, choline based, phospholipid bound fatty acid mixture including polyunsaturated EPA and DHA DE212013000066U1 ( de ) 2012-07-19 2014-09- [patents.google.com]

  As well as making family time to capture visual memories, including a trip to Universal Studios in California, a visit to Yosemite and fishing trips, Bhavna is dedicating her time to finding new treatment options and fundraising. [express.co.uk]

  Limit your intake of fats, eat fish two or three times a week, eat dark green leafy vegetables and fresh fruit daily and a handful of nuts a week. In consultation with your doctor, consider taking a zinc and antioxidant supplement. [mdnz.org.nz]

  I still hunt, fish, play basketball, and ski. I use Zoom Text and the Clarity CCTV at work. So I guess I just want to say if you let it get you down it will and if you continue to keep a good attitude you can pursue many things in life. [webrn-maculardegeneration.com]

  Eating oily fish is recommended by some doctors in a diet similar to that recommended for age related macular degeneration. [en.wikipedia.org]

• Pallor

  The temporal portion of the optic nerve may have pallor. ERG findings are consistent with cone involvement, specifically a reduced 30-Hz flicker amplitude and increased implicit time with normal rod responses. [retinatoday.com]

  During the initial stage of disease, the fundus may be normal or show fine macular lesions and pallor of the optic disc. In the later stages, the fundus shows pigmentary deposits resembling bone spicules, frequently in the macular area. [genedx.com]

• Collapse

  END OF TRIAL Expand All Collapse All A. [clinicaltrialsregister.eu]

• Macula

  Symptoms Patients with previously normal vision develop irregularly shaped yellowish-white flecks or spots in the macula. [retinaaustraliansw.com.au]

  Additionally, our best color vision resides in the macula. Thus, damage to the macula results in loss of visual acuity or sharpness of vision, decreased color vision and small blind spots. [chrisvargo.com]

  The affected area, the macula, lies at the back of the retina and is the part that produces the sharpest vision. [encyclopedia2.thefreedictionary.com]

  Signs: It’s usually diagnosed by yellow-white spots that appear in and around the macula. If they cover the back of the eye, then it is called fundus flavimaculatus. [webmd.com]

• Photosensitivity

  The disease involves the photosensitive cells of the retina and deteriorates them, specially the cells in the macula. [lowvisionmd.org]

• Retinal Pigmentation

  pigment epithelial cells, and the presence of yellow flecks extending from the macula. [ncbi.nlm.nih.gov]

  Retinal RPE Cells are Replaced The cells to be replaced are called RPE (retinal pigment epithelial) cells and are located underneath the top layer of the retina. [retinaeyedoctor.com]

  The associated photoreceptor loss stemming from degeneration of the retinal pigment epithelium can eventually result in blindness. [healio.com]

  Adverse events were associated with vitreoretinal surgery and immunosuppression. 13 (72%) of 18 patients had patches of increasing subretinal pigmentation consistent with transplanted retinal pigment epithelium. [visionaware.org]

  The transplantation of its proprietary retinal pigment epithelium (RPE) cells in the final patient of 12 denotes completion of the enrollment stage of the trial. [asrs.org]

• Visual Impairment

  The most serious visual impairment occurs when abnormal blood vessels form and leak serous fluid or bleed into the tissue of the macula, ultimately producing scar tissue. Peripheral (side) vision is unaffected. [encyclopedia2.thefreedictionary.com]

  Goalball is exclusively for athletes with visual impairments and consists of two halves of 12 minutes each and athletes wear blackout masks on a playing court. [raredr.com]

  See all Hide authors and affiliations Science 19 Sep 1997: Vol. 277, Issue 5333, pp. 1805-1807 DOI: 10.1126/science.277.5333.1805 Abstract Age-related macular degeneration (AMD) is the leading cause of severe central visual impairment among the elderly [science.sciencemag.org]

  Impairement, Low Vision, Lens, Magnification, Zoom, Macular Degeneration, Morbus Stargardt, Disability, Glaucoma, Special Needs, Eyesight, Sight, Free, Ad-Free [play.google.com]

  Alternative techniques for performing life skills and academic tasks from the teacher of students with visual impairments. [familyconnect.org]

• Visual Impairment

  The most serious visual impairment occurs when abnormal blood vessels form and leak serous fluid or bleed into the tissue of the macula, ultimately producing scar tissue. Peripheral (side) vision is unaffected. [encyclopedia2.thefreedictionary.com]

  Goalball is exclusively for athletes with visual impairments and consists of two halves of 12 minutes each and athletes wear blackout masks on a playing court. [raredr.com]

  See all Hide authors and affiliations Science 19 Sep 1997: Vol. 277, Issue 5333, pp. 1805-1807 DOI: 10.1126/science.277.5333.1805 Abstract Age-related macular degeneration (AMD) is the leading cause of severe central visual impairment among the elderly [science.sciencemag.org]

  Impairement, Low Vision, Lens, Magnification, Zoom, Macular Degeneration, Morbus Stargardt, Disability, Glaucoma, Special Needs, Eyesight, Sight, Free, Ad-Free [play.google.com]

  Alternative techniques for performing life skills and academic tasks from the teacher of students with visual impairments. [familyconnect.org]

• Night Blindness

  These are similar to those of the second group but at later ages the symptoms and signs of retinitis pigmentosa appear including night blindness and abnormalities of the photopic ERG (in bright conditions and entailing cone dysfunctions) and the scotopic [barcelonamaculafound.org]

  Unfortunately, some of these treatments can cause night blindness. Also in clinical trials is gene therapy to replace the abnormal ABCR gene. [brightfocus.org]

  People with retinitis pigmentosa (RP) first experience defective dark adaptation ("night blindness"), then constriction of the visual field ("tunnel vision") and eventually loss of central vision. [visiontechnology.com]

  Blindness Oculocutaneous Albinism Optic Atrophy Retinitis Pigmentosa, Autosomal Dominant (adRP) Retinitis Pigmentosa, Autosomal Recessive (arRP) Retinitis Pigmentosa, X-linked Stargardt Disease Usher Syndrome Clinical Utility: Molecular confirmation [genedx.com]

  The proband’s father and paternal grandfather suffered from night blindness but, by history, the visual impairment was not as severe as that of the proband. [bmcmedgenet.biomedcentral.com]

• Progressive Loss of Vision

  Loss of photoreceptor cells leads to progressive vision loss in people with Stargardt macular degeneration. [ivami.com]

  Living with Stargardt Disease by the American Macular Degeneration Foundation Signs and Symptoms The most common symptom of Stargardt disease is the slow, progressive loss of vision in the center of the focal point of sight in both eyes. [news-medical.net]

  The progression of visual loss varies hugely between individuals, but side or peripheral vision is usually preserved. This means that patients with Stargardt disease rarely have issues with independent mobility. [fightingblindness.ie]

  It is characterised by macular degeneration that begins in childhood, adolescence or adulthood, resulting in progressive loss of vision. [2] [2] Signs and symptoms [ edit ] Presentation usually occurs in childhood or adolescence, though there is no upper [en.wikipedia.org]

• Headache

  Further elements of his ocular history include headaches while wearing spectacle correction, improved visual acuity at night than during the day, and that his right eye wanders at random times. Review of systems was negative. [macularhope.org]

Clinical suspicion toward atypical forms of macular degeneration must exist in the presence of a juvenile onset of central vision loss and a delayed adaptation to dark. Firstly, a detailed patient history should determine the exact onset of symptoms. Similar findings in close relatives or siblings may be encountered in all types of STGD, having in mind both autosomal dominant and autosomal recessive patterns of inheritance, thus emphasizing the importance of a detailed family history [1]. After a comprehensive patient interview, a complete ophthalmological exam is necessary. Progressive macular atrophy, with or without the appearance of yellow flecks (composed of lipofuscin) are typically observed on fundoscopy [1]. Moreover, fluorescein angiography is a useful method to distinguish STGD1 from STGD3 by identifying a dark choroid on examination [1]. If valid criteria for STGD exist, genetic studies are necessary to identify specific mutations responsible for the onset of this disorder. Autosomal recessive STGD1 stems from mutations in the photoreceptor cell–specific ATP-binding cassette transporter (ABCR) gene located on chromosome 1p13, whereas genes coding for elongase of very long chain fatty acids-4 (or ELOVL4) located on chromosome 6 are the underlying cause of the autosomal dominant STGD3 and STGD4 [4] [5]. Haplotype analysis is the recommended diagnostic method for detection of mutations in STGD.

• Central Scotoma

  Vision may be mildly distorted and an early central blind spot (scotoma) may develop. Advanced dry MD, or geographic atrophy, occurs when there is significant loss of retinal pigment and results in a larger central scotoma. [mdnz.org.nz]

  Stargardt’s manifests with increasingly poor or absent central vision in both eyes (called central scotomas) and overall decreased "sharp" vision. As the disease progresses, color perception declines. [familyconnect.org]

  Most patients experience visual loss, impaired color vision, and a central scotoma early in life. During the initial stage of disease, the fundus may be normal or show fine macular lesions and pallor of the optic disc. [genedx.com]

In Phase 3 studies, the study drug or treatment is given to even larger groups of people (1,000-3,000) to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment [visionaware.org]

Occasionally, it can be inherited as autosomal dominant. click here for Genetic Inheritance Treatment There is no cure, but research on this and other related diseases may identify a form of treatment See all other forms of Macular Degeneration. [retinaaustraliansw.com.au]

Enrolment in any other clinical treatment study throughout the duration of the SAR422459 study. Current or anticipated treatment with anticoagulant therapy or the use of anticoagulation therapy within the four weeks prior to surgery. [clinicaltrials.gov]

Researchers are trying to develop gene therapies and other treatments based on this knowledge, but currently there are no specific treatments for this disease. [brightfocus.org]

Prognosis - Stargardt Disease Prognosis of Stargardt disease 1: slowly progressing condition Treatment - Stargardt Disease Stargardt disease, like other forms of macular degeneration, does not have a cure yet. [checkorphan.org]

Prognosis Due to the high clinical variability, prognosis depends on certain parameters (notably age of onset and electroretinographic findings) that may help the clinician provide the patient with an indication of the course of the disease. [orpha.net]

STGD typically has an onset at 10 to 20 years of age, and its earliest symptoms are consistent with slowly progressive central vision loss. 17 Later ages of onset have been associated with a more favorable visual prognosis. 18,19 Cases of asymptomatic [retinatoday.com]

“Although we don’t know the prognosis for sure, there is hope. The barrier isn’t science, it’s cost, so we’ve been trying to raise as much money as possible for further research, as well as educating people on the disease.” [express.co.uk]

Prognosis [ edit ] The long-term prognosis for patients with Stargardt disease is widely variable and depends on the age of onset and genetic alleles. [en.wikipedia.org]

Etiology STGD1 has been linked to mutations in the ABCA4 gene, which encodes an adenosine triphosphate (ATP)-binding cassette transporter (ABCR) expressed specifically in the cones and rods of the retina. [orpha.net]

In the proband with a single ABCA4 mutation and a PRPH2 mutation, the genetic etiology of the disease is less clear. [bmcmedgenet.biomedcentral.com]

Retrieved Jan 2012 ^ The Epidemiology of Stargardt Disease in the United Kingdom Kurt Spiteri Cornish, FRCOphth, Jason Ho, FRCOphth, Susan Downes, FRCOphth, Neil W. [en.wikipedia.org]

Summary Epidemiology Worldwide prevalence of STGD1 is estimated at 1/8,000 - 1/10,000. Both sexes are equally affected. [orpha.net]

Pathophysiology Vision loss in Stargardt disease occurs due to the degeneration of the macula. The macula is a small area in the middle of the retina that allows clear, sharp vision when an individual looks straight ahead at an object. [news-medical.net]

Late-onset Stargardt disease is associated with missense mutations outside known functional domains of ABCA4. [5] Pathophysiology [ edit ] In STGD1, the genetic defect causes malfunction of the ATP-binding cassette transporter (ABCA4) protein of the visual [en.wikipedia.org]

NEW YORK – Slowing down the aggregation or “clumping” of vitamin A in the eye may help prevent vision loss caused by macular degeneration, research from Columbia University Medical Center has found. [newsroom.cumc.columbia.edu]

Identification of ABCR alterations will permit presymptomatic testing of high-risk individuals and may lead to earlier diagnosis of AMD and to new strategies for prevention and therapy. ↵ * These authors contributed equally to this work. ↵ † To whom correspondence [science.sciencemag.org]

Symptoms - Stargardt Disease Causes - Stargardt Disease Prevention - Stargardt Disease Not supplied. Diagnosis - Stargardt Disease Not supplied. [checkorphan.org]

Method of using pure 3R-3'R stereoisomer of zeaxanthin to treat or prevent retinal degeneration in humans US5827652A ( en ) * 1995-10-31 1998-10-27 Applied Food Biotechnology, Inc. [patents.google.com]

Mutations in ABCA4 gene prevents the ABCA4 protein eliminate toxic byproducts of photoreceptor cells. These toxic substances accumulate and form lipofuscin in the photoreceptor cells and surrounding retinal cells, ultimately leading to cell death. [ivami.com]

1. Vasireddy V, Wong P, Ayyagaria R. Genetics and molecular pathology of Stargardt-like macular degeneration. Progress in retinal and eye research. 2010;29(3):191-207.
2. Hubbard AF, Askew EW, Singh N, Leppert M, Bernstein PS. Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation. Arch Ophthalmol. 2006;124(2):257-263.
3. Maugeri A, Meire F, Hoyng CB, et al. A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy. Invest Ophthalmol Vis Sci. 2004;45(12):4263-4267.
4. Briggs CE, Rucinski D, Rosenfeld PJ, Hirose T, Berson EL, Dryja TP. Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. Invest Ophthalmol Vis Sci. 2001;42(10):2229-2236.
5. McMahon A, Jackson SN, Woods AS, Kedzierski W. A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines. FEBS lett. 2007;581(28):5459-5463.