A doença de Stargardt é uma rara distrofia macular de início precoce que afeta progressivamente a acuidade visual central. Na maior parte das vezes é. Congenital hypotrichosis and Stargardt macular dystrophy are rare autosomal . anágenos frouxos associada á distrofia macular – Descrição de uma família. Estudo macular na doença de Stargardt Macula study in Stargardt’s disease Presentación de tres casos de distrofia macular de North Carolina Presentation.

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Female patient, 17 years old, white, complaining of thinning, brittle hair, and lack of hair growth Figure 1.

In this study, we aimed to reveal how intronic variants present in patients with Stargardt from the same Swedish family affect splicing. The patient underwent an ophthalmic exam and visual function testing including: Fluorescein angiography showing both a hyperfluorescent central area due to a window defect of the macula and a diffuse atrophy of the RPE.

Check that any vitamin supplements you take do not add vitamin A to your intake. Mean progression of DDAF was 0.

Conclusions Larger macular pigment volume AFI and skin RRS measurements are noninvasive, objective, and reliable methods to assess ocular and systemic carotenoid levels. Based on re-evaluation by fundus photography, optical coherence tomography, fluorescein angiography, and comparison of the results of FAF with the first visit, vitelliform macular dystrophy was suspected and a definite diagnosis was made by electrooculography and genetic testing.

To report stadgardt spectrum of ophthalmic findings in patients with Stargardt dystrophy or fundus flavimaculatus who have a specific sequence variation in the ABCR gene.

Stargardt disease – Wikipedia

Degenerative muscular changes accompanied by interstitial edema were presumed responsible for this abnormality. Multimodal imaging analysis of the macula suggested the presence of a butterfly-shaped pattern dystrophy. Certified reading center graders performed manual and semiautomated region finder-based grading of confocal scanning laser ophthalmoscopy cSLO fundus autofluorescence FAF images for 41 eyes of 22 patients.


Patterns of spread were non-random and followed a radial path that leaves behind a trail of diminishing autofluorescence. Macular lesions can be hereditary as well as acquired.

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. She mentions having a diagnosis of Stargardt’s disease progressive macular dystrophy and makes continuous use of oral contraceptives and eye drops of carboxymethylcellulose.

The daughter female, age 29 years maculwr Patient 1 came to the hospital. What was thought to be one disease is, in fact, probably at least three different diseases, each related to a different genetic change. The lipofuscin deposits were small in our three patients, and they did not have a butterfly appearance. Usually, altered color vision is not observed in patients with dominant Stargardt disease The hyperosmolarity response was greatly suppressed less than M-4SD; M and SD indicate respectively the mean and the standard deviation in normal maccular subjects in all examined eyes with retinitis pigmentosa 20 eyes including retinitis pigmentosa sine pigmento 8 eyescentral pericentral retinitis pigmentosa 4 eyesand pigmented paravenous retinochoroidal atrophy 2 eyes.

By doing so, the child may be We suggest that, in addition to a comprehensive clinical examination, optical coherence tomography examination is implemented as distrovia of an ophthalmological assessment for the myotonic dystrophy type 1 patient with reduced visual acuity. The preferential hyperacuity perimeter PHP is a technique designed to avoid the Amsler grid problems.

In STGD4, a butterfly pattern of dystrophy is caused by mutations in a gene that encodes a membrane bound protein that is involved in the elongation of very long chain fatty acids ELOVL4 [9]. Over several years, in most patients, injuries have evolved to a well-circumscribed retinal area, RPE atrophy, and a choroid of increasing size that is associated with flecks.

Our results are consistent with the location of distrovia gene responsible of the late-onset Stargardt -like macular dystrophy in the 1p13 region and raise the hypothesis of either allelic mutational events or contiguous genes in this chromosomal region.


Fundus fluorescein angiography in fundus flavimaculatus and Stargardt’s disease. However we did identify a number of promising research topics, including distrofai treatments, stem cells, new forms of laser treatment, and implantable intraocular lens telescopes.

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Optical coherence tomography is primarily used for the evaluation of pronounced alterations of the retinal architecture, such as in macular holes, epiretinal gliosis, intra- and subretinal fluid accumulation as well as retinal atrophy. Besides clinical symptoms, progress and electromyography computerized tomography improves the diagnostics of myotonic dystrophy.

We suggest that these missense mutations in regions of unknown function are milder alleles and more susceptible to modifier effects.

Large central excavation of the retinal and choroid layers, referred to as a macular caldera, was seen in an age-independent manner in the grade 3 eyes. Among all the vectors available for gene therapy of inherited retinal diseases, those based on adeno-associated viruses AAV are the most promising given the efficacy shown in various animal models and their excellent safety profile in humans, as confirmed in many ongoing clinical trials.

Flecks were generally absent at that stage. Muscular dystrophies can present with rhabdomyolysis; FKRP mutations are particularly frequent in causing such complication.


Segregation analyses in the families of 19 of these patients were informative and revealed that the index cases and all available affected siblings were compound heterozygotes or homozygotes. Song, Hongxin; Rossi, Ethan A. Vitamin A is most needed by the body to maintain a perfect vision.

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