Purpose: To evaluate de macular structural damage in Stargardt's disease by optical coherence tomography, correlating with visual acuity and disease duration.
Methods: Patients with Stargardt's disease were included and submitted to visual acuity (logMAR) measurement and complementary examinations performed were color fundus photographs, fluorescein angiography and optical coherence tomography. All cases were reexamined for diagnostic confirmation and the duration of symptoms was determined. The control group was composed of the same number of subjects, matched by sex and age, without any ophthalmologic alteration.
Results: The sample was composed of 22 patients (44 eyes) with Stargardt's disease, 11 (50%) males and 11 (50%) females. The duration of the disease varied from 3 to 21 years (mean of 11.4 +/- 5.3 years). The groups did not show significant differences in age (p= 0.98) and sex. Concerning the macular thickness in optical coherence tomography, the variation in the study group differed significantly from the control group, presenting smaller values of thickness (p<0.001). There was negative and significant correlation between the duration of disease and the macular thickness assessed by optical coherence tomography (r=-0.57 and p=0.005). There was positive correlation between the duration of the disease and the visual acuity (r=0.50 and p=0.0167) and negative correlation between the visual acuity and the macular thickness in optical coherence tomography (r=-0.83 and p=0.0001).
Conclusion: It was evidenced that patients with Stargardt's disease have a thinner macular thickness when compared to normal subjects, and this reduction is related to the duration of symptoms of the disease. Additionally, the thickness and also the duration of the disease influence the visual prognosis of the patients.
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http://dx.doi.org/10.1590/s0004-27492008000100002 | DOI Listing |
Commun Med (Lond)
January 2025
Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.
Background: Stargardt disease type 1 (STGD1) is a progressive retinal disorder caused by bi-allelic variants in the ABCA4 gene. A recurrent variant at the exon-intron junction of exon 6, c.768G>T, causes a 35-nt elongation of exon 6 that leads to premature termination of protein synthesis.
View Article and Find Full Text PDFKlin Monbl Augenheilkd
January 2025
Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
A diagnosis of age-related macular degeneration (AMD) may have a significant impact on a patient's life. Therefore, it is important to consider differential diagnoses, as these can differ considerably from AMD regarding prognosis, inheritance, monitoring and therapy. Differential diagnoses include other macular diseases with drusen, drusen-like changes, monogenic retinal dystrophies, as well as a wide range of other, often rare macular diseases.
View Article and Find Full Text PDFOphthalmic Genet
January 2025
Department of Small Animal Clinical Sciences, Michigan State University, East Lansing, Michigan, USA.
Background: The phenotypic variability of inherited conditions can be due to several factors including environmental, epigenetic, and genetic. One of those genetic factors is the presence of modifying loci which alter the phenotypic expression of a primary disease or phenotype-causing variant. Modifiers are known to affect penetrance, dominance, expressivity, and pleiotropy of disease.
View Article and Find Full Text PDFStargardt disease is a currently untreatable, inherited neurodegenerative disease that leads to macular degeneration and blindness due to loss-of-function mutations in the ABCA4 gene. We have designed a dual adeno-associated viral vector encoding a split-intein adenine base editor to correct the most common mutation in ABCA4 (c.5882G>A, p.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Fujian Provincial Key Laboratory of Ophthalmology and Visual Science, Fujian Engineering and Research Center of Eye Regenerative Medicine, Eye Institute of Xiamen University, School of Medicine, Xiamen University, Xiamen 361102, China.
All--retinal (atRAL)-induced photoreceptor atrophy and retinal degeneration are hallmark features of dry age-related macular degeneration (AMD) and Stargardt disease type 1 (STGD1). The toxicity of atRAL is closely related to the generation of reactive oxygen species (ROS). Quercetin, a natural product, is known for its potent antioxidant properties; however, its effects in mitigating atRAL-mediated retinal damage remains unclear.
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