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Stargardt disease

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217:, the picture has become more complex. What was thought to be one disease is, in fact, probably at least three different diseases, each related to a different genetic change. Therefore it is currently a little confusing to define what Stargardt's disease is. Stargardt disease (STGD1) is caused by bi-allelic ABCA4 gene variants (i.e., autosomal recessive). Importantly, the exact genotype (i.e., combinations of both ABCA4 variants along with the presence of additional genetic modifiers) is highly prognostic for the age of onset and disease progression. 432:(1875–1927) was a German ophthalmologist born in Berlin. He studied medicine at the University of Kiel, qualifying in 1899. He later became head of the Bonn University's ophthalmology clinic, followed by a post as chair of ophthalmology at the University of Marburg. In 1909 he described 7 patients with a recessively inherited macular dystrophy, now known as Stargardt's disease, being described as a progressive and severe reduction of central vision, which develops in the first and second decade of life. 51: 468:
Kubota Vision is in Phase III clinical trials of a visual cycle modulator that modulates RPE65 activity to treat Stargardt's. Kubota Vision published the results of a dose range study of a drug known as Emixustat, with findings that will effect dose selection for their phase III trial set to complete
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Certain foods, especially carrots, are rich in vitamin A, but the amount from food is not harmful. Foods with a high vitamin A content are often yellow or orange in color, such as squash, pumpkin, and sweet potato, but some, such as liver, are not. There are supplements on the market with more than a
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MD Stem Cells' approach using Bone Marrow Derived Stem Cells has shown benefit in various retinal diseases. In Stargardt, 94.1% of patients had improved vision or remained stable with results showing high statistical significance (p=0.0004). Reasons for improvement may include transfer of organelles
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Alkeus Pharma is evaluating the potential of deuterated vitamin A as the drug ALK-001. The hope is that the deuterated vitamin A will reduce the build-up of toxic vitamin A metabolites in the retina and therefore slow rate of visual deterioration. To create deuterated vitamin A some of the hydrogen
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Ultra-violet light has more energy and is a more damaging wavelength spectra than visible light. In an effort to mitigate this, some ophthalmologists may recommend that the patient wears a broad-brimmed hat or sunglasses when they are outdoors. Sometimes, doctors also instruct their patients to wear
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The carrier frequency in the general population of ABCA4 alleles is 5 to 10%. Different combinations of ABCA4 genes will result in widely different age of onset and retinal pathology. The severity of the disease is inversely proportional to ABCA4 function and it is thought that ABCA4 related disease
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Gene therapy is designed to insert a copy of a corrected gene into retinal cells. The hope is to return cell function back to normal and the treatment has the potential to stop disease progression. This therapy will not restore impaired vision back to normal. The research is being undertaken by a
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Advances in technology have brought devices that help Stargardt patients who are losing their vision maintain their independence. Low-vision aids can range from hand lenses to electronic devices and can allow those losing their vision to be able to carry out daily activities. Some patients may even
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Schwartz, SD; Regillo, CD; Lam, BL; Eliott, D; Rosenfeld, PJ; Gregori, NZ; Hubschman, JP; Davis, JL; Heilwell, G; Spirn, M; Maguire, J; Gay, R; Bateman, J; Ostrick, RM; Morris, D; Vincent, M; Anglade, E; Del Priore, LV; Lanza, R (7 February 2015). "Human embryonic stem cell-derived retinal pigment
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MD Stem Cells, a research-physician clinical development company using autologous bone marrow derived stem cells (BMSC), has released results of the Stargardt Disease cohort within their ongoing Stem Cell Ophthalmology Study II (SCOTS2) clinical trial (NCT 03011541). Average visual improvement was
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cycle. Defective ABCA4 leads to improper shuttling of vitamin A throughout the retina, and accelerated formation of toxic vitamin A dimers (also known as bisretinoids), and associated degradation byproducts. Vitamin A dimers and other byproducts are widely accepted as the cause of STGD1. As such,
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The presentation usually occurs in childhood or adolescence, though there is no upper age limit for presentation and late-onset is possible. The main symptom is loss of visual acuity, uncorrectable with glasses. This manifests as the lack of the ability to see fine details when reading or viewing
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The majority of patients will progress to legal blindness, which means that central reading vision will be lost. However, perimetry and microperimetry studies indicate that the peripheral light sensitivity is preserved over a long time in a significant fraction of all patients (i.e., >50%).
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is used less often than in the past. These investigations may be followed by genetic testing in order to avoid misdiagnosis. Other diseases may have overlapping phenotypic features with Stargardt Disease and the disease itself has multiple variants. In one study, 35% of patients diagnosed with
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A 2017 prospective epidemiologic study that recruited 81 patients with STGD over 12 months reported an incidence of between 1 and 1.28 per 10 000 individuals. The median age of presentation was 27 years (range 5–64 years), most (90%) were symptomatic, with a median visual acuity of
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Stargardt disease has no impact on general health and life expectancy is normal. Some patients, usually those with the late-onset form, can maintain excellent visual acuities for extended periods and are therefore able to perform tasks such as reading or driving.
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There are several clinical trials in various stages involving several potential therapeutic areas, gene therapy, stem cell therapy, drug therapy and artificial retinas. In general all are testing the safety and benefits of their respective therapies in
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to support these recommendations, but they are based on scientific understanding of the mechanisms underlying the disease pathology. There are three strategies doctors recommend for potential harm reduction: reducing retinal exposure to damaging
193:(delayed dark adaptation). There is a wide variation between individuals in the symptoms experienced as well as the rate of deterioration in vision. Vision loss can be attributed to buildup of byproducts of vitamin A in photoreceptor cells and 1751: 1736: 445:. These studies are designed to evaluate the safety, dose and effectiveness in small number of people in Phase I with Phase II evaluating similar criteria in a larger population but including a greater insight into potential side effects. 343:
Stargardt Disease through physical ophthalmic examination were found to be misdiagnosed when subsequent genetic testing was done. Genetic testing can be utilized to ensure a proper diagnosis for which the correct treatment can be applied.
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and functioning retinal cells. This therapy has the potential stop disease progression and in the long term improve vision. To improve vision this technique will need to replicate the complex multi-layered and
1578:"A Phase 2 Multicenter, Double-Masked, Randomized, Placebo-Controlled Study to Investigate the Long Term Safety, Tolerability, Pharmacokinetics and Effects of ALK-001 on the Progression of Stargardt Disease" 383:
Smoking, overweight or obesity, and poor diet quality may also contribute to more rapid degeneration. On the other hand, the consumption of oily fish, in a diet similar to that which doctors recommend for
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slowing the formation of vitamin A dimers might lead to a treatment for Stargardt. When vitamin A dimers and byproducts damage the retinal cells, fluorescent granules called
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At present there is no gene therapy for Stargardt Disease. However, ophthalmologists recommend measures that could slow the rate of progression. There are no
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gene variants (STGD1). However, there are Stargardt-like diseases with mimicking phenotypes that are referred to as STGD3 and STGD4, and have a
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epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: follow-up of two open-label phase 1/2 studies".
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Adler L, 4th; Boyer, NP; Chen, C; Ablonczy, Z; Crouch, RK; Koutalos, Y (2015). "The 11-cis Retinal Origins of Lipofuscin in the Retina".
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has a role to play in other diseases such as retinitis pigmentosa, cone-rod dystrophies and age-related macular degeneration (AMD).
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Historically from Stargardt's first description of his eponymous disease until recently, the diagnosis was based on looking at the
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injection. The therapy is known as SAR422459 and it has been terminated prematurely due to halt in developing the drug product.
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17.96% (95% CI, 16.39 to 19.53%) with 61.8% of eyes improving and 23.5% remaining stable with no adverse events occurring.
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The long-term prognosis for patients with Stargardt disease is widely variable and depends on the age of onset and genetic
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Ibanez, Manuel Benjamin; GuimarĂŁes, Thales Antonio Cabral; Capasso, Jenina; Bello, Nicholas; Levin, Alex V. (March 2021).
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yellow-tinted glasses (which filter out blue light) when indoors and in artificial light or in front of a digital screen.
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distant objects. Symptoms typically develop before age 20 (median age of onset: ~17 years old), and include: wavy vision,
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of hydrogen. A Phase II clinical trial is taking place using ALK-001 with an estimated completion date of December 2024.
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from The University of Arizona College of Medicine, Department of Ophthalmology and Vision Science. Retrieved Jan 2012
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Lee, W; Zernant, J; Nagasaki, T; Molday, LL; Su, PY; Fishman, GA; Tsang, SH; Molday, RS; Allikmets, R (26 June 2021).
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daily allowance of vitamin A that should be avoided, but each individual should discuss this with their doctor.
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is caused by mutations in a gene that encodes a membrane bound protein that is involved in the elongation of
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Spiteri Cornish, Kurt; Ho, Jason; Downes, Susan; Scott, Neil W.; Bainbridge, James; Lois, Noemi (2017).
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Autosomal-dominant Stargardt-like diseases were linked to genes such as PROM1 (STGD3) or ELOVL4 (STGD4)
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Stargardt macular dystrophy & degeneration, juvenile macular degeneration, fundus flavimaculatus
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Fakin A, Robson AG, Fujinami K, Moore AT, Michaelides M, Pei-Wen Chiang J; et al. (2016).
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though implanting and maintaining an electrical device within the eye that interfaces with the
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Cideciyan AV, Swider M, Aleman TS, Tsybovsky Y, Schwartz SB, Windsor EA; et al. (2009).
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are in the early stages of development and their use could be of benefit to many people with
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that begins in childhood, adolescence or adulthood, resulting in progressive loss of vision.
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Chuang, AT; Margo, CE; Greenberg, PB (July 2014). "Retinal implants: a systematic review".
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Deutman, August; Hoyng, Carol; van Lith-Verhoeven, Janneke (2006). "Macular dystrophies".
886:"Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4" 518: 190: 186: 137: 1435: 17: 3688: 3672: 3385: 3237: 3182: 3025: 2793: 2722: 2504: 2474: 2420: 2374: 2245: 2118: 2052: 2042: 1760: 1651: 1624: 1510: 1475: 1221: 1186: 976: 951: 844: 819: 776: 752:"Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates" 751: 724: 699: 580: 555: 429: 335: 1577: 1547: 3716: 3305: 3160: 3100: 2817: 2765: 2712: 2642: 2551: 2438: 2415: 2343: 2252: 2057: 1962: 1687: 1492: 1331: 1315: 1171: 418: 71: 1782: 1703: 1416: 950:
Lee, W; Zernant, J; Su, PY; Nagasaki, T; Tsang, SH; Allikmets, R (25 January 2022).
919: 631: 556:"Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations" 3170: 2998: 2379: 2294: 2202: 2080: 2075: 2020: 2015: 1563: 1068: 3369: 3320: 3263: 3258: 3215: 3193: 3104: 3095: 3015: 2993: 2805: 2777: 2575: 2443: 2284: 2105: 1982: 1934: 1881: 571: 526: 488:. There are a number of research groups working with stem cells one of which is 1793: 1474:
Kubota, Ryo; Birch, David G.; Gregory, Jeff K.; Koester, John M. (2020-11-19).
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Pfau M, Cukras CA, Huryn LA, Zein WM, Ullah E, Boyle MP; et al. (2022).
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Diagnosis is firstly clinical through history and examination usually with a
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using examination and investigation of the eye. Since the advent of
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STGD1: By far the most common form of Stargardt disease is the
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inheritance pattern, which has been later linked to bi-allelic
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presents many challenges. An example of a device is made by
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is used to deliver a normal gene to the target tissue via a
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involves injecting cells with the potential to mature into
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accumulation and maintaining good general health and diet.
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are also useful for diagnostic and prognostic purposes.
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Progress in Molecular Biology and Translational Science
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In STGD1, the genetic defect causes malfunction of the
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form of Stargardt disease caused by mutations in the
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mutations outside known functional domains of ABCA4.
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(2015). 326:which are associated with retinal pathology. 197:is usually less affected than fine, central ( 61:is used for diagnosis of Stargardt's disease. 8: 2930:Chronic progressive external ophthalmoplegia 1344:: CS1 maint: multiple names: authors list ( 1275:"Stargardt Disease | National Eye Institute" 932:: CS1 maint: multiple names: authors list ( 866:: CS1 maint: multiple names: authors list ( 798:: CS1 maint: multiple names: authors list ( 601: 599: 328:Spectral-domain optical coherence tomography 160:genes, respectively. It is characterized by 2258:Thygeson's superficial punctate keratopathy 1136:American Journal of Medical Genetics Part A 1099:: CS1 maint: numeric names: authors list ( 1042:"OMIM Entry - * 604365 - PROMININ 1; PROM1" 560:Cold Spring Harbor Perspectives in Medicine 3423: 3409: 3401: 3364: 3128: 2917: 2908: 2786: 2773: 2760: 2367: 2185: 2176: 2163: 1914: 1905: 1892: 1870: 1856: 1848: 1719: 49: 32: 1650: 1640: 1509: 1491: 1398: 1388: 1220: 1202: 975: 901: 843: 775: 723: 674:"Stargardt disease/Fundus flavimaculatus" 668: 666: 579: 136:is the most common inherited single-gene 83:Loss of central vision, low visual acuity 1623:Weiss, Jeffrey N.; Levy, Steven (2021). 546: 1337: 1092: 925: 859: 791: 1445: 1443: 1269: 1267: 1265: 1120:(4 ed.). Elsevier Mosby. pp. 1171–74. 1112: 1110: 537:that interface with the optic nerve. 7: 3728:Membrane transport protein disorders 2738:Familial exudative vitreoretinopathy 1676:The British Journal of Ophthalmology 27:Genetic form of macular degeneration 3469:Surfactant metabolism dysfunction 3 2861:non-arteritic anterior (NAION) 2698:Leber's hereditary optic neuropathy 1298:Pfau M, Holz FG, MĂĽller PL (2021). 191:difficulty adapting to dim lighting 2733:Persistent tunica vasculosa lentis 25: 2461:Polypoidal choroidal vasculopathy 294:In STGD4, a butterfly pattern of 2566:Central retinal artery occlusion 1688:10.1136/bjophthalmol-2013-303708 1493:10.1136/bjophthalmol-2020-317712 1480:British Journal of Ophthalmology 1316:10.1136/bjophthalmol-2020-316201 1304:British Journal of Ophthalmology 386:age related macular degeneration 276:ATP-binding cassette transporter 236:form caused by mutations in the 224:play a role remains to be seen. 152:inheritance due to defects with 2571:Branch retinal artery occlusion 2300:Terrien's marginal degeneration 2601:Bietti's crystalline dystrophy 2561:Central retinal vein occlusion 2290:Pellucid marginal degeneration 1: 2654:Vitelliform macular dystrophy 2545:Posterior vitreous detachment 2411:Persistent pupillary membrane 1843:NCBI Genetic Testing Registry 1548:10.1016/s0140-6736(14)61376-3 320:Scanning laser ophthalmoscopy 3141:Leber's congenital amaurosis 3052:Internuclear ophthalmoplegia 2743:Vogt-Koyanagi-Harada disease 2728:Persistent fetal vasculature 2659:Leber's congenital amaurosis 1069:10.1016/bs.pmbts.2015.07.022 496:atoms are replaced with the 392:opt for in-person services. 289:retinal pigmented epithelium 59:Optical coherence tomography 1940:Meibomian gland dysfunction 1451:"Home – ClinicalTrials.gov" 572:10.1101/cshperspect.a017111 507:and is therefore twice the 353:prospective clinical trials 300:very long chain fatty acids 3744: 2664:Birdshot chorioretinopathy 2638:Central serous retinopathy 2456:Focal choroidal excavation 2329:Corneal neovascularization 2146:Subconjunctival hemorrhage 1390:10.1016/j.oret.2017.03.001 968:10.1172/jci.insight.156154 768:10.1172/jci.insight.155373 364:with the hope of lowering 322:which highlights areas of 3698: 3623:Dilated cardiomyopathy 1O 3497:Harlequin-type ichthyosis 3376: 3363: 3131: 3047:Convergence insufficiency 2920: 2789: 2772: 2759: 2688:Primary juvenile glaucoma 2533:Cytomegalovirus retinitis 2175: 2162: 1948: 1904: 1891: 1882:Diseases of the human eye 247:defect in the PROM1 gene. 57: 48: 3583:Pseudoxanthoma elasticum 2557:Ocular ischemic syndrome 1642:10.3390/medicines8020010 1204:10.3390/medicines8020010 824:Human Molecular Genetics 704:Human Molecular Genetics 606:K. B. Stargardt (1909). 531:Argus retinal prosthesis 280:visual phototransduction 185:, sensitivity to glare, 183:loss of depth perception 18:Stargardt's disease 3485:Retinitis pigmentosa 19 3057:One and a half syndrome 2811:Foster Kennedy syndrome 340:Fluorescein angiography 278:(ABCA4) protein of the 3571:Dubin–Johnson syndrome 3296:Argyll Robertson pupil 2096:Periorbital cellulitis 509:standard atomic weight 187:impaired colour vision 3650:Adrenomyeloneuropathy 3501:Lamellar ichthyosis 2 3269:Scintillating scotoma 2935:Kearns–Sayre syndrome 2878:Toxic and nutritional 2851:posterior (PION) 2334:Kayser–Fleischer ring 903:10.1167/iovs.16-19829 3646:Adrenoleukodystrophy 3042:Conjugate gaze palsy 2913:Paralytic strabismus 2846:anterior (AION) 2628:Retinitis pigmentosa 2623:Macular degeneration 2396:Intermediate uveitis 2312:Keratoconjunctivitis 1377:Ophthalmology Retina 1148:10.1002/ajmg.a.62045 998:Yatsenko et al. 2001 650:diseasesdatabase.com 449:partnership between 443:phase I or II trials 162:macular degeneration 3685:Gallbladder disease 3481:Stargardt disease 1 3347:Childhood blindness 3326:Parinaud's syndrome 2896:Extraocular muscles 2684:Ocular hypertension 2648:Epiretinal membrane 2633:Retinal haemorrhage 2488:Congenital cataract 1612:. 8 September 2021. 716:10.1093/hmg/ddab122 503:which has an extra 360:, avoiding excess 332:electroretinography 142:autosomal recessive 2873:Leber's hereditary 2540:Retinal detachment 2493:Childhood cataract 2305:Post-LASIK ectasia 2086:Orbital cellulitis 2035:Lacrimal apparatus 1815:External resources 1455:clinicaltrials.gov 836:10.1093/hmg/ddn421 624:10.1007/BF01961301 490:Ocata Therapeutics 421:equivalent 20/66. 222:missense mutations 168:Signs and symptoms 150:autosomal dominant 134:Stargardt disease 3710: 3709: 3398: 3397: 3394: 3393: 3359: 3358: 3355: 3354: 3301:Marcus Gunn pupil 3277: 3276: 3198:Visual impairment 3065: 3064: 2971: 2970: 2958:Fourth-nerve (IV) 2886: 2885: 2823:Optic disc drusen 2755: 2754: 2751: 2750: 2469: 2468: 2357: 2356: 2263:Corneal dystrophy 2158: 2157: 2154: 2153: 2029: 2028: 1838: 1837: 1359:Stargardt Disease 710:(14): 1293–1304. 523:visual impairment 473:Stem-cell therapy 459:Lentiviral vector 358:ultraviolet light 195:Peripheral vision 131: 130: 113:Diagnostic method 36:Stargardt disease 30:Medical condition 16:(Redirected from 3735: 3703:ABC transporters 3432:Genetic disorder 3425: 3418: 3411: 3402: 3365: 3129: 3120:Vision disorders 3079:Refractive error 3021:Brown's syndrome 2977:Other strabismus 2963:Sixth-nerve (VI) 2953:Oculomotor (III) 2925:Ophthalmoparesis 2918: 2909: 2900:Binocular vision 2833:Optic neuropathy 2799:optic papillitis 2787: 2774: 2761: 2650:(Macular pucker) 2368: 2349:Band keratopathy 2186: 2177: 2164: 2091:Orbital lymphoma 1978:Blepharophimosis 1968:Blepharochalasis 1915: 1906: 1893: 1872: 1865: 1858: 1849: 1720: 1708: 1707: 1671: 1665: 1664: 1654: 1644: 1620: 1614: 1613: 1606: 1600: 1599: 1588: 1582: 1581: 1574: 1568: 1567: 1542:(9967): 509–16. 1530: 1524: 1523: 1513: 1495: 1471: 1465: 1464: 1462: 1461: 1447: 1438: 1427: 1421: 1420: 1402: 1392: 1368: 1362: 1356: 1350: 1349: 1343: 1335: 1295: 1289: 1288: 1286: 1285: 1271: 1260: 1259: 1257: 1256: 1241: 1235: 1234: 1224: 1206: 1182: 1176: 1175: 1127: 1121: 1114: 1105: 1104: 1098: 1090: 1052: 1046: 1045: 1038: 1032: 1031: 1024: 1018: 1017: 1010: 999: 996: 990: 989: 979: 947: 938: 937: 931: 923: 905: 881: 872: 871: 865: 857: 847: 815: 804: 803: 797: 789: 779: 747: 738: 737: 727: 695: 689: 688: 686: 684: 670: 661: 660: 658: 656: 642: 636: 635: 603: 594: 593: 583: 551: 519:Retinal implants 455:Oxford BioMedica 324:autofluorescence 53: 33: 21: 3743: 3742: 3738: 3737: 3736: 3734: 3733: 3732: 3713: 3712: 3711: 3706: 3694: 3655: 3628: 3595:Cystic fibrosis 3553: 3506: 3457:Tangier disease 3439: 3436:ABC transporter 3429: 3399: 3390: 3372: 3351: 3330: 3273: 3242: 3202: 3156:Color blindness 3122: 3114: 3061: 3035:Other binocular 3030: 2967: 2939: 2902: 2898: 2894: 2882: 2827: 2780: 2768: 2747: 2703:Ocular hypotony 2668: 2528:Chorioretinitis 2509: 2465: 2449:Chorioretinitis 2425: 2406:Rubeosis iridis 2384: 2353: 2324:Corneal opacity 2280:Corneal ectasia 2207: 2171: 2150: 2136:Pseudopterygium 2100: 2062: 2025: 1992: 1988:Ankyloblepharon 1944: 1900: 1887: 1886: 1876: 1839: 1834: 1833: 1810: 1809: 1731: 1717: 1712: 1711: 1673: 1672: 1668: 1622: 1621: 1617: 1608: 1607: 1603: 1590: 1589: 1585: 1580:. 19 July 2021. 1576: 1575: 1571: 1532: 1531: 1527: 1473: 1472: 1468: 1459: 1457: 1449: 1448: 1441: 1428: 1424: 1370: 1369: 1365: 1357: 1353: 1336: 1297: 1296: 1292: 1283: 1281: 1279:www.nei.nih.gov 1273: 1272: 1263: 1254: 1252: 1243: 1242: 1238: 1184: 1183: 1179: 1129: 1128: 1124: 1115: 1108: 1091: 1079: 1054: 1053: 1049: 1040: 1039: 1035: 1026: 1025: 1021: 1012: 1011: 1002: 997: 993: 949: 948: 941: 924: 896:(11): 4668–78. 883: 882: 875: 858: 817: 816: 807: 790: 749: 748: 741: 697: 696: 692: 682: 680: 678:eyewiki.aao.org 672: 671: 664: 654: 652: 644: 643: 639: 605: 604: 597: 553: 552: 548: 543: 484:anatomy of the 438: 427: 414: 398: 349: 312: 272: 270:Pathophysiology 250:STGD3: A rare 243:STGD4: A rare 215:genetic testing 207: 170: 138:retinal disease 31: 28: 23: 22: 15: 12: 11: 5: 3741: 3739: 3731: 3730: 3725: 3715: 3714: 3708: 3707: 3699: 3696: 3695: 3693: 3692: 3689:Sitosterolemia 3676: 3673:Sitosterolemia 3663: 3661: 3657: 3656: 3654: 3653: 3636: 3634: 3630: 3629: 3627: 3626: 3614: 3598: 3586: 3574: 3561: 3559: 3555: 3554: 3552: 3551: 3539: 3527: 3514: 3512: 3508: 3507: 3505: 3504: 3488: 3472: 3460: 3447: 3445: 3441: 3440: 3430: 3428: 3427: 3420: 3413: 3405: 3396: 3395: 3392: 3391: 3389: 3388: 3386:Onchocerciasis 3383: 3377: 3374: 3373: 3368: 3361: 3360: 3357: 3356: 3353: 3352: 3350: 3349: 3344: 3338: 3336: 3332: 3331: 3329: 3328: 3323: 3318: 3313: 3308: 3303: 3298: 3293: 3287: 3285: 3279: 3278: 3275: 3274: 3272: 3271: 3266: 3261: 3256: 3250: 3248: 3244: 3243: 3241: 3240: 3238:Quadrantanopia 3235: 3234: 3233: 3228: 3223: 3212: 3210: 3204: 3203: 3201: 3200: 3187: 3186: 3185: 3183:Oguchi disease 3175: 3174: 3173: 3168: 3163: 3153: 3148: 3143: 3138: 3132: 3126: 3116: 3115: 3113: 3112: 3107: 3098: 3093: 3092: 3091: 3086: 3075: 3073: 3067: 3066: 3063: 3062: 3060: 3059: 3054: 3049: 3044: 3038: 3036: 3032: 3031: 3029: 3028: 3026:Duane syndrome 3023: 3018: 3013: 3012: 3011: 3006: 2996: 2991: 2981: 2979: 2973: 2972: 2969: 2968: 2966: 2965: 2960: 2955: 2949: 2947: 2941: 2940: 2938: 2937: 2932: 2927: 2921: 2915: 2906: 2888: 2887: 2884: 2883: 2881: 2880: 2875: 2870: 2865: 2864: 2863: 2858: 2853: 2848: 2837: 2835: 2829: 2828: 2826: 2825: 2820: 2815: 2814: 2813: 2803: 2802: 2801: 2794:Optic neuritis 2790: 2784: 2770: 2769: 2764: 2757: 2756: 2753: 2752: 2749: 2748: 2746: 2745: 2740: 2735: 2730: 2725: 2723:Phthisis bulbi 2720: 2715: 2710: 2705: 2700: 2695: 2690: 2676: 2674: 2670: 2669: 2667: 2666: 2661: 2656: 2651: 2645: 2640: 2635: 2630: 2625: 2620: 2619: 2618: 2613: 2608: 2606:Coats' disease 2603: 2598: 2596:of prematurity 2593: 2588: 2583: 2573: 2568: 2563: 2554: 2549: 2548: 2547: 2537: 2536: 2535: 2530: 2519: 2517: 2511: 2510: 2508: 2507: 2505:Ectopia lentis 2502: 2497: 2496: 2495: 2490: 2479: 2477: 2471: 2470: 2467: 2466: 2464: 2463: 2458: 2453: 2452: 2451: 2441: 2435: 2433: 2427: 2426: 2424: 2423: 2418: 2413: 2408: 2403: 2398: 2393: 2387: 2385: 2383: 2382: 2377: 2371: 2365: 2363:Vascular tunic 2359: 2358: 2355: 2354: 2352: 2351: 2346: 2341: 2336: 2331: 2326: 2321: 2320: 2319: 2309: 2308: 2307: 2302: 2297: 2292: 2287: 2277: 2276: 2275: 2270: 2260: 2255: 2250: 2249: 2248: 2246:Photokeratitis 2243: 2238: 2233: 2228: 2217: 2215: 2209: 2208: 2206: 2205: 2200: 2194: 2192: 2183: 2173: 2172: 2167: 2160: 2159: 2156: 2155: 2152: 2151: 2149: 2148: 2143: 2138: 2133: 2128: 2127: 2126: 2119:Conjunctivitis 2116: 2110: 2108: 2102: 2101: 2099: 2098: 2093: 2088: 2083: 2078: 2072: 2070: 2064: 2063: 2061: 2060: 2055: 2053:Dacryocystitis 2050: 2045: 2043:Dacryoadenitis 2039: 2037: 2031: 2030: 2027: 2026: 2024: 2023: 2018: 2013: 2008: 2002: 2000: 1994: 1993: 1991: 1990: 1985: 1980: 1975: 1970: 1965: 1960: 1955: 1949: 1946: 1945: 1943: 1942: 1937: 1932: 1927: 1921: 1919: 1912: 1902: 1901: 1896: 1889: 1888: 1885: 1884: 1878: 1877: 1875: 1874: 1867: 1860: 1852: 1846: 1845: 1836: 1835: 1832: 1831: 1819: 1818: 1816: 1812: 1811: 1808: 1807: 1796: 1785: 1774: 1763: 1748: 1732: 1727: 1726: 1724: 1723:Classification 1716: 1715:External links 1713: 1710: 1709: 1666: 1615: 1601: 1583: 1569: 1525: 1486:(3): 403–408. 1466: 1439: 1422: 1383:(6): 508–513. 1363: 1351: 1310:(2): 258–264. 1290: 1261: 1236: 1177: 1122: 1106: 1077: 1047: 1033: 1019: 1000: 991: 939: 873: 805: 739: 690: 662: 637: 618:(3): 534–550. 595: 566:(2): a017111. 545: 544: 542: 539: 477:differentiated 469:in June 2022. 437: 434: 430:Karl Stargardt 426: 423: 413: 410: 397: 394: 348: 345: 336:microperimetry 311: 308: 271: 268: 267: 266: 259: 248: 241: 206: 203: 169: 166: 129: 128: 125: 121: 120: 115: 109: 108: 105: 101: 100: 97: 93: 92: 89: 85: 84: 81: 75: 74: 69: 63: 62: 55: 54: 46: 45: 42: 38: 37: 29: 26: 24: 14: 13: 10: 9: 6: 4: 3: 2: 3740: 3729: 3726: 3724: 3721: 3720: 3718: 3705: 3704: 3697: 3690: 3686: 3682: 3681: 3677: 3674: 3670: 3669: 3665: 3664: 3662: 3658: 3651: 3647: 3643: 3642: 3638: 3637: 3635: 3631: 3624: 3620: 3619: 3615: 3612: 3608: 3604: 3603: 3599: 3596: 3592: 3591: 3587: 3584: 3580: 3579: 3575: 3572: 3568: 3567: 3563: 3562: 3560: 3556: 3549: 3545: 3544: 3540: 3537: 3533: 3532: 3528: 3525: 3521: 3520: 3516: 3515: 3513: 3509: 3502: 3498: 3494: 3493: 3489: 3486: 3482: 3478: 3477: 3473: 3470: 3466: 3465: 3461: 3458: 3454: 3453: 3449: 3448: 3446: 3442: 3437: 3433: 3426: 3421: 3419: 3414: 3412: 3407: 3406: 3403: 3387: 3384: 3382: 3379: 3378: 3375: 3371: 3366: 3362: 3348: 3345: 3343: 3340: 3339: 3337: 3333: 3327: 3324: 3322: 3319: 3317: 3314: 3312: 3309: 3307: 3306:Adie syndrome 3304: 3302: 3299: 3297: 3294: 3292: 3289: 3288: 3286: 3284: 3280: 3270: 3267: 3265: 3262: 3260: 3257: 3255: 3252: 3251: 3249: 3245: 3239: 3236: 3232: 3229: 3227: 3224: 3222: 3219: 3218: 3217: 3214: 3213: 3211: 3209: 3205: 3199: 3195: 3191: 3188: 3184: 3181: 3180: 3179: 3176: 3172: 3169: 3167: 3164: 3162: 3161:Achromatopsia 3159: 3158: 3157: 3154: 3152: 3149: 3147: 3144: 3142: 3139: 3137: 3134: 3133: 3130: 3127: 3125: 3121: 3117: 3111: 3108: 3106: 3102: 3101:Anisometropia 3099: 3097: 3094: 3090: 3087: 3085: 3082: 3081: 3080: 3077: 3076: 3074: 3072: 3068: 3058: 3055: 3053: 3050: 3048: 3045: 3043: 3040: 3039: 3037: 3033: 3027: 3024: 3022: 3019: 3017: 3014: 3010: 3007: 3005: 3002: 3001: 3000: 2997: 2995: 2992: 2990: 2986: 2983: 2982: 2980: 2978: 2974: 2964: 2961: 2959: 2956: 2954: 2951: 2950: 2948: 2946: 2942: 2936: 2933: 2931: 2928: 2926: 2923: 2922: 2919: 2916: 2914: 2910: 2907: 2905: 2904:Accommodation 2901: 2897: 2893: 2889: 2879: 2876: 2874: 2871: 2869: 2866: 2862: 2859: 2857: 2854: 2852: 2849: 2847: 2844: 2843: 2842: 2839: 2838: 2836: 2834: 2830: 2824: 2821: 2819: 2818:Optic atrophy 2816: 2812: 2809: 2808: 2807: 2804: 2800: 2797: 2796: 2795: 2792: 2791: 2788: 2785: 2783: 2779: 2775: 2771: 2767: 2762: 2758: 2744: 2741: 2739: 2736: 2734: 2731: 2729: 2726: 2724: 2721: 2719: 2718:Keratomycosis 2716: 2714: 2713:Globe rupture 2711: 2709: 2706: 2704: 2701: 2699: 2696: 2694: 2691: 2689: 2685: 2681: 2678: 2677: 2675: 2671: 2665: 2662: 2660: 2657: 2655: 2652: 2649: 2646: 2644: 2643:Macular edema 2641: 2639: 2636: 2634: 2631: 2629: 2626: 2624: 2621: 2617: 2614: 2612: 2609: 2607: 2604: 2602: 2599: 2597: 2594: 2592: 2589: 2587: 2584: 2582: 2579: 2578: 2577: 2574: 2572: 2569: 2567: 2564: 2562: 2558: 2555: 2553: 2552:Retinoschisis 2550: 2546: 2543: 2542: 2541: 2538: 2534: 2531: 2529: 2526: 2525: 2524: 2521: 2520: 2518: 2516: 2512: 2506: 2503: 2501: 2498: 2494: 2491: 2489: 2486: 2485: 2484: 2481: 2480: 2478: 2476: 2472: 2462: 2459: 2457: 2454: 2450: 2447: 2446: 2445: 2442: 2440: 2439:Choroideremia 2437: 2436: 2434: 2432: 2428: 2422: 2419: 2417: 2416:Iridodialysis 2414: 2412: 2409: 2407: 2404: 2402: 2399: 2397: 2394: 2392: 2389: 2388: 2386: 2381: 2378: 2376: 2373: 2372: 2369: 2366: 2364: 2360: 2350: 2347: 2345: 2344:Arcus senilis 2342: 2340: 2339:Haab's striae 2337: 2335: 2332: 2330: 2327: 2325: 2322: 2318: 2315: 2314: 2313: 2310: 2306: 2303: 2301: 2298: 2296: 2293: 2291: 2288: 2286: 2283: 2282: 2281: 2278: 2274: 2271: 2269: 2266: 2265: 2264: 2261: 2259: 2256: 2254: 2253:Corneal ulcer 2251: 2247: 2244: 2242: 2239: 2237: 2234: 2232: 2231:acanthamoebic 2229: 2227: 2224: 2223: 2222: 2219: 2218: 2216: 2214: 2210: 2204: 2201: 2199: 2196: 2195: 2193: 2191: 2187: 2184: 2182: 2181:Fibrous tunic 2178: 2174: 2170: 2165: 2161: 2147: 2144: 2142: 2139: 2137: 2134: 2132: 2129: 2125: 2122: 2121: 2120: 2117: 2115: 2112: 2111: 2109: 2107: 2103: 2097: 2094: 2092: 2089: 2087: 2084: 2082: 2079: 2077: 2074: 2073: 2071: 2069: 2065: 2059: 2058:Xerophthalmia 2056: 2054: 2051: 2049: 2046: 2044: 2041: 2040: 2038: 2036: 2032: 2022: 2019: 2017: 2014: 2012: 2009: 2007: 2004: 2003: 2001: 1999: 1995: 1989: 1986: 1984: 1981: 1979: 1976: 1974: 1971: 1969: 1966: 1964: 1963:Lagophthalmos 1961: 1959: 1956: 1954: 1951: 1950: 1947: 1941: 1938: 1936: 1933: 1931: 1928: 1926: 1923: 1922: 1920: 1916: 1913: 1911: 1907: 1903: 1899: 1894: 1890: 1883: 1880: 1879: 1873: 1868: 1866: 1861: 1859: 1854: 1853: 1850: 1844: 1841: 1840: 1830: 1826: 1825: 1821: 1820: 1817: 1813: 1806: 1802: 1801: 1797: 1795: 1791: 1790: 1786: 1784: 1780: 1779: 1775: 1773: 1769: 1768: 1764: 1762: 1758: 1757: 1753: 1749: 1747: 1743: 1742: 1738: 1734: 1733: 1730: 1725: 1721: 1714: 1705: 1701: 1697: 1693: 1689: 1685: 1682:(7): 852–56. 1681: 1677: 1670: 1667: 1662: 1658: 1653: 1648: 1643: 1638: 1634: 1630: 1626: 1619: 1616: 1611: 1605: 1602: 1597: 1596:Alkeus Pharma 1593: 1587: 1584: 1579: 1573: 1570: 1565: 1561: 1557: 1553: 1549: 1545: 1541: 1537: 1529: 1526: 1521: 1517: 1512: 1507: 1503: 1499: 1494: 1489: 1485: 1481: 1477: 1470: 1467: 1456: 1452: 1446: 1444: 1440: 1437: 1436:Who Named It? 1433: 1432: 1426: 1423: 1418: 1414: 1410: 1406: 1401: 1396: 1391: 1386: 1382: 1378: 1374: 1367: 1364: 1360: 1355: 1352: 1347: 1341: 1333: 1329: 1325: 1321: 1317: 1313: 1309: 1305: 1301: 1294: 1291: 1280: 1276: 1270: 1268: 1266: 1262: 1250: 1246: 1240: 1237: 1232: 1228: 1223: 1218: 1214: 1210: 1205: 1200: 1196: 1192: 1188: 1181: 1178: 1173: 1169: 1165: 1161: 1157: 1153: 1149: 1145: 1142:(3): 814–19. 1141: 1137: 1133: 1126: 1123: 1119: 1113: 1111: 1107: 1102: 1096: 1088: 1084: 1080: 1078:9780128010594 1074: 1070: 1066: 1062: 1058: 1051: 1048: 1043: 1037: 1034: 1029: 1023: 1020: 1015: 1009: 1007: 1005: 1001: 995: 992: 987: 983: 978: 973: 969: 965: 961: 957: 953: 946: 944: 940: 935: 929: 921: 917: 913: 909: 904: 899: 895: 891: 887: 880: 878: 874: 869: 863: 855: 851: 846: 841: 837: 833: 830:(5): 931–41. 829: 825: 821: 814: 812: 810: 806: 801: 795: 787: 783: 778: 773: 769: 765: 761: 757: 753: 746: 744: 740: 735: 731: 726: 721: 717: 713: 709: 705: 701: 694: 691: 679: 675: 669: 667: 663: 651: 647: 641: 638: 633: 629: 625: 621: 617: 614:(in German). 613: 609: 602: 600: 596: 591: 587: 582: 577: 573: 569: 565: 561: 557: 550: 547: 540: 538: 536: 532: 528: 524: 520: 516: 512: 510: 506: 502: 499: 493: 491: 487: 483: 478: 474: 470: 466: 464: 460: 456: 452: 446: 444: 435: 433: 431: 424: 422: 420: 411: 409: 405: 403: 395: 393: 389: 387: 381: 377: 373: 369: 367: 363: 359: 354: 346: 344: 341: 337: 333: 329: 325: 321: 317: 309: 307: 305: 301: 297: 292: 290: 286: 281: 277: 269: 264: 260: 257: 253: 249: 246: 242: 239: 235: 231: 230: 229: 225: 223: 218: 216: 212: 204: 202: 200: 196: 192: 188: 184: 180: 176: 167: 165: 163: 159: 155: 151: 147: 143: 139: 135: 126: 122: 119: 116: 114: 110: 106: 102: 98: 94: 90: 86: 82: 80: 76: 73: 72:Ophthalmology 70: 68: 64: 60: 56: 52: 47: 43: 39: 34: 19: 3723:Eye diseases 3700: 3678: 3666: 3639: 3616: 3600: 3588: 3576: 3564: 3541: 3529: 3517: 3490: 3480: 3474: 3462: 3450: 3434:, membrane: 3196: / 3192: / 3171:Monochromacy 3103: / 2999:Heterophoria 2987: / 2686: / 2682: / 2586:hypertensive 2559: / 2380:Ciliary body 2295:Keratoglobus 2203:Episcleritis 2081:Enophthalmos 2076:Exophthalmos 2021:Trichomegaly 2016:Distichiasis 1918:Inflammation 1822: 1798: 1787: 1776: 1765: 1750: 1735: 1679: 1675: 1669: 1632: 1628: 1618: 1604: 1595: 1586: 1572: 1539: 1535: 1528: 1483: 1479: 1469: 1458:. 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A 453:and 334:and 127:None 3687:4, 1829:827 1752:ICD 1737:ICD 1684:doi 1647:PMC 1637:doi 1544:doi 1540:385 1506:PMC 1488:doi 1484:106 1434:at 1395:hdl 1385:doi 1312:doi 1308:105 1217:PMC 1199:doi 1144:doi 1140:185 1065:doi 1061:134 972:PMC 964:doi 898:doi 840:PMC 832:doi 772:PMC 764:doi 720:PMC 712:doi 620:doi 576:PMC 568:doi 156:or 3719:: 3648:, 3609:, 3499:, 3483:, 1827:: 1803:: 1792:: 1781:: 1770:: 1759:: 1744:: 1741:10 1698:. 1690:. 1680:98 1678:. 1655:. 1645:. 1631:. 1627:. 1594:. 1558:. 1550:. 1538:. 1514:. 1504:. 1496:. 1482:. 1478:. 1453:. 1442:^ 1411:. 1403:. 1393:. 1379:. 1375:. 1342:}} 1338:{{ 1326:. 1318:. 1306:. 1302:. 1277:. 1264:^ 1247:. 1225:. 1215:. 1207:. 1193:. 1189:. 1166:. 1158:. 1150:. 1138:. 1134:. 1109:^ 1097:}} 1093:{{ 1081:. 1071:. 1059:. 1003:^ 980:. 970:. 958:. 954:. 942:^ 930:}} 926:{{ 914:. 906:. 894:57 892:. 888:. 876:^ 864:}} 860:{{ 848:. 838:. 828:18 826:. 822:. 808:^ 796:}} 792:{{ 780:. 770:. 758:. 754:. 742:^ 728:. 718:. 708:30 706:. 702:. 676:. 665:^ 648:. 626:. 616:71 610:. 598:^ 584:. 574:. 562:. 558:. 492:. 404:. 330:, 306:) 181:, 177:, 3691:) 3683:( 3675:) 3671:( 3652:) 3644:( 3625:) 3621:( 3613:) 3605:( 3597:) 3593:( 3585:) 3581:( 3573:) 3569:( 3550:) 3546:( 3538:) 3534:( 3526:) 3522:( 3503:) 3495:( 3487:) 3479:( 3471:) 3467:( 3459:) 3455:( 3424:e 3417:t 3410:v 1871:e 1864:t 1857:v 1754:- 1739:- 1729:D 1706:. 1686:: 1663:. 1639:: 1633:8 1598:. 1566:. 1546:: 1522:. 1490:: 1463:. 1419:. 1397:: 1387:: 1381:1 1348:) 1334:. 1314:: 1287:. 1258:. 1233:. 1201:: 1195:8 1174:. 1146:: 1103:) 1089:. 1067:: 1044:. 1030:. 1016:. 988:. 966:: 960:7 936:) 922:. 900:: 870:) 856:. 834:: 802:) 788:. 766:: 760:7 736:. 714:: 687:. 659:. 634:. 622:: 592:. 570:: 564:5 302:( 20:)

Index

Stargardt's disease

Optical coherence tomography
Specialty
Ophthalmology
Symptoms
Diagnostic method
Slit lamp
retinal disease
autosomal recessive
ABCA4
autosomal dominant
ELOVL4
PROM1
macular degeneration
blind spots
blurriness
loss of depth perception
impaired colour vision
difficulty adapting to dim lighting
Peripheral vision
foveal
phenotype
genetic testing
missense mutations
recessive
ABCA4
dominant
dominant
ELOVL4

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