Purpose: To evaluate the psychological impact and depression prevalence in patients with Stargardt disease.
Methods: We conducted a case-control study including 39 patients with Stargardt disease and 32 age- and sex-matched healthy controls. All participants underwent a complete ophthalmologic examination and completed the Patient Health Questionnaire-9 (PHQ-9) and the Zung Depression Inventory questionnaire. Results were analyzed using IBM SPSS 22.0 software.
Results: The patient group consisted of 19 men and 20 women with mean age of 36.9 ± 5.4 years and control group of 19 men and 13 women with mean age of 42.5 ± 10.1 years. The mean values of PHQ-9 and Zung scores for patients and healthy individuals were 10.9 ± 4.9, 46.7 ± 11.1, 6.7 ± 5.4, and 41.1 ± 8.5, respectively. There were statistically significant differences between the 2 groups in PHQ-9 scores (independent samples t test: p = 0.001), but not in Zung scores (Mann-Whitney test: p = 0.053). The PHQ-9 and Zung scores appeared to be moderately but significantly correlated (Pearson coefficient 0.44, p<0.0001). In addition, PHQ-9 score seems to be raised along with age, whereas both scores are low when best-corrected visual acuity is high.
Conclusions: Patients with Stargardt disease exhibited more depressive symptoms compared to healthy individuals according mainly to PHQ-9 scores. Moderate depression was significantly correlated visual function decline.
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http://dx.doi.org/10.5301/ejo.5000700 | DOI Listing |
Genes (Basel)
November 2024
Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.
Stargardt disease (STGD1) is an autosomal recessive disorder caused by pathogenic variants in that affects the retina and is characterised by progressive central vision loss. The onset of disease manifestations varies from childhood to early adulthood. Whole exome (WES), whole gene, and whole genome sequencing (WGS) were performed for a patient with STGD1.
View Article and Find Full Text PDFCureus
December 2024
Ophthalmology, Ramsay Health Care, Mount Stuart Hospital, Torquay, GBR.
Macular degeneration (MD) is a pathological condition affecting the macula, an area located near the center of the retina. This disease affects individuals of all ages, both children and adults, causing severe visual impairment. Age-related macular degeneration (AMD) is the leading cause of visual loss in the older population while Stargardt disease (SD) is the most common hereditary maculopathy with an autosomal dominant pattern of inheritance.
View Article and Find Full Text PDFStem Cells Transl Med
December 2024
NEI/OSCTRS/OGVFB, Bethesda, MD, United States.
Retinal pigment epithelium (RPE) atrophy is a significant cause of human blindness worldwide, occurring in polygenic diseases such as age-related macular degeneration (AMD) and monogenic diseases such as Stargardt diseases (STGD1) and late-onset retinal degeneration (L-ORD). The patient-induced pluripotent stem cells (iPSCs)-derived RPE (iRPE) model exhibits many advantages in understanding the cellular basis of pathological mechanisms of RPE atrophy. The iRPE model is based on iPSC-derived functionally mature and polarized RPE cells that reproduce several features of native RPE cells, such as phagocytosis of photoreceptor outer segments (POS) and replenishment of visual pigment.
View Article and Find Full Text PDFRetina
December 2024
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.
Purpose: To investigate the clinical implications of choroidal hyperreflective foci (HF) as biomarkers of disease severity in Stargardt disease (STGD).
Methods: 129 eyes from 66 patients with STGD were included. The primary outcome was the correlation between the number of foveal choroidal HF and indicators of disease severity.
medRxiv
November 2024
Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.
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