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Purpose: Congenital aniridia is a serious eye disease characterized by absence of iris to various degrees. The aims of this study were to investigate health-related quality of life (HRQoL) in adults with aniridia and assess the relationships between HRQoL, psychological status, ocular health and obesity.
Methods: Twenty-nine adults with congenital aniridia (48% male, aged 18-79 years) participated. HRQoL was measured with SF-36 and the EQ visual analogue scale (VAS). The physical (PCS) and mental (MCS) component summaries of the SF-36 were calculated with higher scores indicating better HRQoL. Symptoms of anxiety and depression were measured using the Hospital Anxiety and Depression Scale (HADS). Obesity was assessed with the Patient-Reported Outcomes in Obesity (PROS). Sociodemographic characteristics, genetic variants and ocular and medical health variables were also analysed.
Results: The participants scored significantly lower in the general health domain of the SF-36 than the general population (65.2 vs. 75.3, p = 0.017). The EQ VAS score was also lower in the aniridia group (64.9 vs. 77.9, p = 0.021). Low PCS score was correlated with presence of ocular pain (p = 0.019), high HADS score (p = 0.017) and high PROS score (p = 0.009). Low MCS score was related to higher educational level (p = 0.038) and high HADS score (p < 0.001). High HADS and PROS scores were both related to low EQ VAS scores.
Conclusion: Adults with congenital aniridia scored worse on certain measures of HRQoL than the general population. Poorer HRQoL was associated with increased symptoms of anxiety, depression and obesity and with presence of ocular pain.
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http://dx.doi.org/10.1111/aos.16615 | DOI Listing |
Quant Imaging Med Surg
December 2024
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
Background: Anterior segment dysgenesis (ASD) encompasses a range of congenital disorders affecting the development of the eye's anterior segment, often leading to significant visual impairment and glaucoma. Although numerous studies have focused on the genetic basis of ASD, few have comprehensively compared the clinical features across ASD subtypes. This study aims to address this gap by describing and comparing the clinical characteristics and ultrasound biomicroscopy (UBM) imaging features of various ASD subtypes in a Chinese tertiary medical center.
View Article and Find Full Text PDFKlin Monbl Augenheilkd
December 2024
Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Saarbrücken, Germany.
Introduction: Congenital aniridia is a rare panocular disorder that is associated with varying degrees of impairment of visual acuity. The COST Action (CA18116) developed a survey (aniridia-net.eu) to assess patient-reported experiences with congenital aniridia and its impacts on vision and daily life.
View Article and Find Full Text PDFCurr Eye Res
December 2024
Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany.
Purpose: The potential risks and benefits of cataract surgery, in context of congenital aniridia (CA), are not widely understood, yet. Our purpose was to investigate the effect of lens properties on visual acuity (VA), aniridia-associated keratopathy (AAK) stage and presence of glaucoma at the Homburg Aniridia Center.
Methods: CA subjects, examined at the Department of Ophthalmology of Saarland University between June 2003 and January 2022, were included.
Cornea
December 2024
Department of Ophthalmology, Semmelweis University, Budapest, Hungary.
Purpose: In PAX6 syndrome, it is still not clear, whether prenatally, parallel to the iris tissue developmental anomaly, there is neural ectodermal, neural crest, or mesodermal cell deposition at the corneal endothelium, affecting endothelial structure and function. In addition, because of the postnatal corneal inflammation and commonly appearing secondary glaucoma, progressive endothelial changes are expected. Our purpose was to study the corneal endothelium in subjects with PAX6 aniridia, using in vivo confocal laser scanning microscopy.
View Article and Find Full Text PDFAm J Ophthalmol Case Rep
December 2024
Department of Ophthalmology at University of Cincinnati, 231 Albert Sabin Way, 5th Floor, Cincinnati, OH, 45267-0527, USA.
Purpose: To present a case of aggressive proliferative vitreoretinopathy (PVR) managed with intraoperative and postoperative intravitreal methotrexate (MTX) in a patient with congenital aniridia (CI).
Observations: A 41-year-old female with a history of CI, living-related conjunctival-kerato-limbal allograft transplantation, and multiple intraocular surgeries presents with tractional retinal detachment (TRD) and aggressive grade C PVR 52 days after a primary 23-gauge pars plana vitrectomy (PPV) with rhegmatogenous retinal detachment repair. She underwent 23-gauge PPV, TRD repair including membrane peeling of pre- and sub-retinal PVR, 5000 centistoke silicone oil exchange, endolaser, and MTX infusion.
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