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Full-field stimulus test rod and cone threshold elevation in patients with Stargardt disease correlated well with measures of structure and function, as well as ophthalmoscopic retinal appearance.
We have identified a new kindred with autosomal dominant cone-rod dystrophy with features of Stargardt-like disease.
The presence of midperipheral flecks, especially early in life, carries a poorer visual prognosis for patients with Stargardt disease than when disease is limited to the macula.
The Full-field stimulus test appears to be a useful tool for assessing rod and cone function in Stargardt disease.
Our results provide a pathway for the treatment of Stargardt disease.
The numbers found in this study will be valuable in counseling patients with Stargardt disease and could have value in planning treatment trials.
This study demonstrates the consistency of foveal sparing, the variation in age at onset, the intrafamilial variability, and the prognosis with regard to visual acuity in p. N1868I-associated Stargardt disease.

Related Questions

Is Autism considered a disability?4 answersAutism is indeed considered a disability, as indicated by various research papers. The complexity of autism spectrum disorder (ASD) leads to significant challenges in daily functioning. Studies highlight a high prevalence of autism among individuals seeking disability services, emphasizing the need for early identification and intervention. The stigmatization faced by individuals with autism further underscores its classification as a disability, with societal judgment and exclusion impacting their well-being. Despite the evolving understanding of autism and the neurodiversity paradigm, the presence of clinically significant impairment in autism diagnosis aligns with its recognition as a disability, although there are ongoing discussions about the criteria and implications. In essence, autism's impact on individuals' lives, the need for support services, and the recognition of impairments all contribute to its classification as a disability.
ADHD condition or disability?5 answersADHD is associated with a higher risk of disability, particularly in mid-adulthood. Individuals with ADHD face challenges in various functional domains, impacting activities, participation, and environmental factors. Factors such as younger age at diagnosis, low education level, and comorbid mental disorders like schizophrenia, autism, and anxiety increase the risk of disability pension in young adults with ADHD. Studies have linked ADHD to impaired inhibition, affecting social skills, self-control, organization, and time management, suggesting a central impairment in the behavioral inhibition system. The ICF-CY framework provides a comprehensive approach to understanding functional ability and disability in ADHD, emphasizing the need to consider all dimensions of life for effective intervention and support.
How does disability affect child marriage?4 answersChild marriage is associated with disability, with a higher prevalence of disability among women and men who were married in childhood, especially those married under the age of 16. The strength of this association varies depending on age group and age at first marriage. Further research is needed to understand the causal pathways responsible for the increased likelihood of disability among individuals married in childhood. National initiatives to eliminate child marriage may need to consider making reasonable accommodations to policies to ensure they are equally effective for individuals with disabilities.
What are the risk factors for developing choroidal neovascular membrane in Stargardt disease?5 answersThe risk factors for developing choroidal neovascular membrane (CNVM) in Stargardt disease include a history of cardiovascular disease, cigarette smoking, high body mass index, stage 2 hypertension, and high serum cholesterol levels. Other risk factors include systemic hypertension, pigmentary changes, and the presence of a double layer sign. Additionally, the presence of a CNVM in the fellow eye is associated with an increased risk of developing CNVM. However, there is no specific mention of Stargardt disease in the abstracts provided, so the information may not be directly applicable to this condition. It is important to consult additional research specifically focused on Stargardt disease to determine the specific risk factors for CNVM development in this condition.
What is disability?5 answersDisability is a term that encompasses various aspects of limitations in bodily functions, activities, and social participation due to impairments or abnormalities in physical, psychological, or anatomical structures or functions. It is not solely based on structural damage but also on the performance and behavior of an individual compared to a "fit" person. Impairment refers to any abnormality or loss of bodily structures or physiological functions, including mental functions. Disability arises from impairments and is defined as a restriction or lack of capability to perform activities considered normal for a human being. Handicap, on the other hand, results from impairment and/or disability and limits or prevents the fulfillment of an individual's role in society. The concept of disability is diverse and can have different meanings and implications, influencing public policies, culture, and social expectations.
How do you define disability?5 answersDisability is a socially constructed category that arises when the social participation of someone with an impairment is hindered by normative expectations and material conditions. It is an umbrella term that encompasses various deprivations and capacity limitations of individuals. Disability can be understood as the impairments resulting from disease and injury, as well as the physical, mental, or emotional functional limitations a person experiences due to these impairments. It also includes the participation restrictions individuals face when the environment is not supportive. Disability is not solely determined by the presence of impairments, but also by the impact of these impairments on a person's ability to perform tasks within their social, political, and environmental context. The World Health Organization's International Classification of Functioning, Disability and Health provides a comprehensive framework for understanding disability, highlighting the interaction between physical functions, physical structures, domains of activity, participation, and environmental factors.

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