Progressive Visual Loss
Progressive visual loss refers to the gradual decline in visual acuity or visual field over time, which can significantly impair an individual’s ability to perform daily activities. This condition can range from subtle changes that go unnoticed initially to severe impairment leading to blindness. Understanding the underlying causes and mechanisms of progressive visual loss is crucial for early diagnosis, intervention, and improving patient outcomes.
The biological basis of progressive visual loss is complex, often involving genetic predispositions and neurodegenerative processes. Research indicates that specific genetic variants are associated with visual system degeneration. For instance, early complement genes have been linked to visual system degeneration in multiple sclerosis[1], highlighting the role of immune system components in visual pathology. Genetic factors are also implicated in conditions like progressive supranuclear palsy (PSP), a tauopathy that can affect visual function. Studies have identified common genetic variants influencing the risk of PSP [2], as well as genetic determinants that impact survival in individuals with PSP [3]. Further genomic analyses explore the genetic underpinnings of visual cognition [4], suggesting a broader genetic influence on how the brain processes visual information. Latent trait modeling of tau neuropathology in PSP also points to specific genetic associations [5], further elucidating the molecular pathways involved.
Clinically, recognizing the genetic and biological factors contributing to progressive visual loss is paramount for personalized medicine. Identifying at-risk individuals through genetic screening could allow for earlier monitoring and potentially preventative strategies. For patients already experiencing symptoms, understanding the genetic profile may help predict disease progression and inform treatment decisions, as seen with genetic variants associated with PSP risk and survival[2]. This knowledge can guide the development of targeted therapies that address specific biological pathways involved in visual decline, moving beyond symptomatic management to disease modification.
From a societal perspective, progressive visual loss presents a significant public health challenge. It impacts quality of life, independence, and mental well-being, often leading to increased healthcare costs and caregiver burden. Research into the genetic and biological underpinnings of these conditions contributes to a deeper understanding of human health and disease. By unraveling the genetic architecture, researchers can develop better diagnostic tools, more effective treatments, and potentially cures, thereby reducing the societal impact of visual impairment and improving the lives of affected individuals worldwide.
Limitations
Section titled “Limitations”Research into the genetic underpinnings of progressive visual loss, while advancing understanding, is subject to several limitations that impact the interpretation and generalizability of findings. These constraints span methodological design, the complexity of phenotypic definition, and the pervasive influence of environmental factors. Acknowledging these limitations is crucial for contextualizing current knowledge and guiding future research directions.
Methodological and Statistical Constraints
Section titled “Methodological and Statistical Constraints”Studies on progressive visual loss and related phenotypes often face challenges related to sample size, which can limit statistical power to detect associations, especially for variants with small effect sizes[6]. For instance, some research acknowledges that small sample sizes necessitated the use of empirical significance levels corrected for multiple hypotheses, which, while a valid statistical approach, underscores the inherent power limitations [6]. While power calculations can estimate the ability to detect genotype relative risks at specified risk allele frequencies, the actual power in diverse cohorts might vary, potentially leading to an underestimation of true genetic influences [7].
The reliability of genetic associations is further impacted by the need for robust replication across independent cohorts [1]. While some variants may show significance in both discovery and replication analyses, the absence of independent validation for all findings can limit confidence in their generalizability [1]. Furthermore, issues such as cohort-specific biases and potential effect-size inflation, which can be assessed using methods like LD score regression, must be carefully considered to ensure the validity of reported associations and prevent overestimation of genetic effects in the absence of robust meta-analyses[7].
Phenotypic Definition and Population Generalizability
Section titled “Phenotypic Definition and Population Generalizability”Defining and consistently measuring complex phenotypes like progressive visual loss presents a significant challenge, as visual acuity itself is a critical outcome measure in clinical trials[1]. The use of latent trait modeling, for example, in studies of progressive supranuclear palsy (PSP) tau neuropathology, attempts to capture underlying disease characteristics, but the interpretation of these derived traits can be complex and may not fully encompass the multifaceted nature of visual decline[5]. Additionally, differentiating the specific environmental exposures contributing to a phenotype, such as distinguishing between impulse and continuous noise exposure in studies of hearing shift, highlights the difficulty in isolating precise etiological factors that contribute to sensory loss [6].
Genetic findings are often influenced by the ancestry of the studied populations, posing challenges for generalizability across diverse ethnic groups [5]. Many genetic association studies rely heavily on populations of European descent, as evidenced by allele frequencies obtained from the 1000 Genomes Project European population, which may not accurately reflect genetic architecture in other ancestries [5]. Adjustments for genetic ancestry using principal components are crucial to mitigate confounding, but these measures may not fully capture the complexity of population structure or ensure universal applicability of findings across a broader “cross-population atlas of genetic associations” [1].
Environmental Influences and Unexplained Variation
Section titled “Environmental Influences and Unexplained Variation”The development of complex traits like progressive visual loss is rarely solely genetic, often involving intricate interactions with environmental factors[6]. Studies acknowledge the difficulty in fully accounting for all potential environmental confounders, such as the inability to completely rule out continuous noise exposure when studying impulse noise effects, which can obscure the true genetic contributions [6]. Understanding the “genetic and environmental relationship” is vital, especially when considering the long-term progression of visual or cognitive abilities, as environmental factors can significantly modify phenotypic expression and disease trajectory[8].
Despite advances in genomic analyses, a substantial portion of the heritability for many complex traits remains unexplained, indicating a “missing heritability” gap [8]. This unexplained variance points to the possibility of unmeasured genetic factors, rare variants, complex epigenetic mechanisms, or more intricate gene-environment interactions not yet fully captured by current study designs [9]. Further, while studies identify genetic risk factors for specific conditions or brain lesion distributions, the high dimensionality of significant association pairs in analyses like Mendelian randomization suggests that the full genetic and biological pathways underlying progressive visual loss are still being elucidated[9].
Variants
Section titled “Variants”Genes like LAMA2, GJD2, and PRSS56 play fundamental roles in maintaining the structural integrity and communication networks essential for healthy vision. The LAMA2 gene encodes a component of laminin, a crucial protein in the basement membranes that support various tissues, including those in the eye. Variants such as rs12193446 in LAMA2may influence the stability of these structures, potentially impacting retinal health and contributing to progressive visual loss. Similarly,GJD2 produces Connexin 36, a protein vital for forming gap junctions that enable electrical signals to pass directly between cells in the retina, a process critical for visual signal processing [1]. The rs524952 variant in GJD2 could alter this intercellular communication, affecting the efficiency of light perception and signal transmission. Furthermore, PRSS56(Protease Serine 56) is a gene whose variants, likers1550094 , have been associated with conditions such as posterior microphthalmos, characterized by structural abnormalities of the eye and retina, which are known causes of vision impairment [10].
Proper neuronal function and development are paramount for the intricate processes of vision. The KCNQ5gene, responsible for a voltage-gated potassium channel, is crucial for regulating the electrical activity and excitability of neurons, including those in the visual pathways. Thers7744813 variant in KCNQ5 could alter these electrical properties, potentially disrupting the precise timing and strength of visual signals and leading to progressive visual decline. Another key player, LRRC4C, is involved in cell adhesion and the formation and maintenance of synapses, the connections between neurons [1]. Variants like rs11602008 in LRRC4C might affect synaptic integrity, impacting how visual information is transmitted and processed. RBFOX1 is an RNA-binding protein that meticulously regulates alternative splicing, a process essential for generating diverse protein forms critical for neuronal development and function. Alterations from variants like rs17648524 in RBFOX1 could lead to aberrant protein production, potentially contributing to neurodegenerative processes affecting the retina or optic nerve, which are implicated in various forms of visual system degeneration [1].
Genes governing retinal metabolism and cellular maintenance are directly linked to the health and longevity of visual cells. RDH5 (Retinol Dehydrogenase 5) is indispensable for the visual cycle, converting retinol into retinal within the retinal pigment epithelium, a process vital for regenerating the light-sensitive pigments in photoreceptor cells. Variants such as rs3138142 in RDH5 can impair this cycle, leading to conditions like night blindness and potentially progressive photoreceptor degeneration over time. The WNT7B gene, part of the Wnt signaling pathway, is critical for retinal development, blood vessel formation, and maintaining the blood-retinal barrier. Disruptions caused by variants like rs9330813 in WNT7Bcould contribute to retinopathies or other vascular issues that result in progressive visual loss. Furthermore,NPLOC4 is a component of a complex involved in protein degradation and quality control, essential for all cells, especially highly active photoreceptors. The rs67050149 variant in NPLOC4 may compromise cellular waste removal, leading to the accumulation of damaged proteins and neurodegeneration [4]. Lastly, the region involving TOX-DT and RNA5SP267, with variants like rs72621438 , may influence cell differentiation and survival, processes broadly relevant to the maintenance of ocular tissues and susceptibility to progressive visual impairment[1].
Key Variants
Section titled “Key Variants”| RS ID | Gene | Related Traits |
|---|---|---|
| rs12193446 | LAMA2 | refractive error, self reported educational attainment axial length measurement Hypermetropia Myopia Hypermetropia, Myopia |
| rs524952 | LINC02252 - GJD2 | refractive error, self reported educational attainment Abnormality of refraction Myopia Hypermetropia, Myopia eye disease |
| rs1550094 | PRSS56 | Hypermetropia, Myopia Myopia retinal vasculature measurement refractive error age at onset, eye measurement |
| rs7744813 | KCNQ5 | refractive error, self reported educational attainment Abnormality of refraction Myopia eye disease cataract |
| rs11602008 | LRRC4C | Myopia Hypermetropia, Myopia refractive error age at onset, eye measurement age at onset, Myopia |
| rs17648524 | RBFOX1 | Abnormality of refraction Hypermetropia age at onset, Myopia Myopia progressive visual loss |
| rs3138142 | RDH5 | refractive error, self reported educational attainment macula attribute Hypermetropia Myopia Hypermetropia, Myopia |
| rs9330813 | WNT7B | hematocrit balding measurement appendicular lean mass erythrocyte count pancreas volume |
| rs67050149 | NPLOC4 | intraocular pressure measurement progressive visual loss |
| rs72621438 | TOX-DT - RNA5SP267 | Myopia refractive error retinal vasculature measurement age at onset, eye measurement Abnormality of refraction |
Causes of Progressive Visual Loss
Section titled “Causes of Progressive Visual Loss”Progressive visual loss is a complex condition influenced by a combination of genetic predispositions, environmental exposures, and the cumulative effects of aging and other health conditions. Understanding these various factors is essential for comprehending the mechanisms underlying the gradual decline in visual function.
Genetic Foundations of Visual Degeneration
Section titled “Genetic Foundations of Visual Degeneration”Progressive visual loss is often rooted in an individual’s genetic makeup, encompassing both common and rare inherited variants. Specific genetic predispositions can significantly influence the vulnerability of the visual system to decline. For example, certain genetic variants within early complement genes have been identified as being associated with visual system degeneration, particularly in conditions like multiple sclerosis . Conditions like optic neuritis, characterized by inflammation and damage to the optic nerve, lead to significant visual dysfunction[11]. Such damage also impacts visual acuity, a key measure used in clinical trials for retinal diseases[10].
Furthermore, neurodegenerative disorders, including tauopathies like progressive supranuclear palsy, can contribute to visual impairment by affecting neural structures beyond the optic nerve[2], [4]. The integrity of the visual cortex, the brain region responsible for processing visual information, is also relevant, with genetic variants influencing its surface area [12]. These widespread effects highlight that progressive visual loss is often a complex process involving multiple interconnected components of the visual system.
Genetic Factors Influencing Visual Loss
Section titled “Genetic Factors Influencing Visual Loss”Genetic mechanisms are crucial determinants of an individual’s susceptibility to progressive visual loss. Specific genetic variants have been identified that influence the risk of neurodegenerative diseases, such as progressive supranuclear palsy, a tauopathy that can impact visual function[2], [4]. These genetic factors can affect gene expression patterns and the function of regulatory elements, thereby modulating the overall health and resilience of the visual system.
Moreover, certain genes play a direct role in the vulnerability of the visual system to degeneration. For instance, early complement genes are associated with visual system degeneration observed in multiple sclerosis[1]. These genetic predispositions can influence the structural and functional integrity of ocular and neural tissues, including the visual cortical surface area [12], ultimately contributing to the onset and progression of visual impairment.
Molecular and Cellular Contributors to Progressive Damage
Section titled “Molecular and Cellular Contributors to Progressive Damage”At the molecular and cellular level, progressive visual loss often arises from disruptions in essential biological pathways and the dysfunction of key biomolecules. The complement system, a part of the immune response, is a significant molecular pathway implicated in visual system degeneration[1]. Dysregulation of this system can lead to detrimental inflammatory processes that damage retinal and optic nerve cells, thereby disrupting cellular homeostasis.
Furthermore, the accumulation and aggregation of abnormal proteins, such as tau in tauopathies like progressive supranuclear palsy, represent a critical cellular mechanism of damage [2], [5]. These pathological proteins can interfere with normal cellular functions, including axonal transport and synaptic communication, which are vital for maintaining visual acuity and overall visual system health. The ensuing cellular stress and dysfunction contribute to the progressive loss of neurons and their connections, leading to visual decline.
Neuroinflammation and Homeostatic Disruptions
Section titled “Neuroinflammation and Homeostatic Disruptions”Neuroinflammation is a central pathophysiological process driving progressive visual loss, particularly in conditions like multiple sclerosis where early complement genes are implicated in visual system degeneration[1]. This inflammatory response, often triggered by immune system activation, can directly target and damage neural tissues in the retina and optic nerve. The sustained presence of inflammatory mediators disrupts the delicate homeostatic balance required for neuronal survival and function.
The breakdown of homeostatic mechanisms, where the body’s self-regulatory processes fail to maintain a stable internal environment, exacerbates cellular damage and prevents effective repair. In optic neuritis, for example, the inflammatory attack on the optic nerve leads to demyelination and axonal loss [11]. While some compensatory responses may initially occur, chronic inflammation and ongoing cellular stress eventually overwhelm these repair mechanisms, leading to irreversible structural damage and the progressive decline in visual function.
Pathways and Mechanisms
Section titled “Pathways and Mechanisms”Progressive visual loss arises from complex dysfunctions across multiple biological pathways, involving genetic predispositions, cellular metabolic imbalances, immune responses, and disruptions in integrated neural networks. Understanding these intricate mechanisms is crucial for identifying the underlying causes and potential therapeutic interventions for conditions leading to visual decline.
Genetic Regulation and Transcriptional Control in Visual Decline
Section titled “Genetic Regulation and Transcriptional Control in Visual Decline”Genetic factors play a significant role in determining susceptibility to progressive visual loss, often through their influence on gene regulation and transcription.[2]Common variants can influence the risk of neurodegenerative tauopathies, such as progressive supranuclear palsy, where visual impairment is a feature[2] These genetic variations can impact the expression of critical genes or the function of their protein products, thereby affecting the integrity and function of the visual system. Long-range genomic regulators of genes like THBS1 and LTBP4have been shown to modify disease severity[13], highlighting how regulatory elements distant from coding sequences can exert transcriptional control over pathways vital for visual health. Furthermore, genetic variants in GPCPD1 are associated with the scaling of visual cortical surface area [12], demonstrating direct genetic influence on the structural development of visual processing centers, while modifier gene candidates in other neurological conditions suggest a broader role for genetic background in disease manifestation[14]
Cellular Homeostasis and Neurodegenerative Processes
Section titled “Cellular Homeostasis and Neurodegenerative Processes”The progressive nature of visual loss is frequently linked to a breakdown in cellular homeostasis and the onset of neurodegenerative processes. Neurodegenerative diseases, including progressive supranuclear palsy, are characterized by cellular dysfunction that impacts vital metabolic pathways, such as energy metabolism and protein handling [2] Dysregulation in these metabolic processes can lead to impaired biosynthesis, inefficient catabolism of cellular waste, and a general decline in cellular viability, culminating in neuronal loss within the visual pathways. While not explicitly detailed for visual loss, the identification of cell cycle genes associated with genetic variants, such as those linked to mosaic Y chromosome loss [15], underscores the fundamental importance of regulated cell division and survival mechanisms in preventing cellular degeneration. The failure of these core cellular maintenance pathways ultimately contributes to the progressive and irreversible damage observed in the visual system.
Immune System Modulation and Inflammatory Pathways
Section titled “Immune System Modulation and Inflammatory Pathways”Immune responses and inflammatory pathways represent critical mechanisms contributing to progressive visual loss, particularly in conditions with an autoimmune or inflammatory component.[1]Early complement genes, central components of the innate immune system, are specifically associated with visual system degeneration in multiple sclerosis[1] This association highlights how an overactive or misdirected immune response can lead to inflammatory damage and progressive neuronal loss in the visual pathways. The activation of complement cascades can initiate a destructive cycle, causing direct cellular injury and exacerbating inflammation, which together contribute to the progressive decline in visual function. Modulating these immune and inflammatory pathways therefore presents potential targets for therapeutic strategies aimed at preserving vision.
Intercellular Communication and Neural Network Integration
Section titled “Intercellular Communication and Neural Network Integration”Progressive visual loss can also stem from disruptions in complex intercellular communication and the integrated functioning of neural networks. Long-range genomic regulators impacting genes likeTHBS1 and LTBP4demonstrate the importance of coordinated cellular signaling in maintaining tissue integrity and modifying disease severity[13] THBS1 plays roles in cell-matrix interactions and synaptogenesis, while LTBP4 regulates TGF-beta signaling, both crucial for intercellular communication and tissue remodeling within the visual system. Genomic analyses of visual cognition, including perceptual rivalry and top-down control, further highlight the intricate network interactions and hierarchical regulation within the brain that govern visual processing [4] Dysregulation in these complex signaling cascades and network interactions, potentially influenced by genetic variations at loci like TRIM11 which modify neurodegenerative phenotypes [3], can lead to emergent properties of dysfunction, manifesting as progressive visual loss.
Clinical Relevance
Section titled “Clinical Relevance”Progressive visual loss is a debilitating condition with significant implications for patient care, where understanding its underlying genetic and clinical factors is crucial for accurate diagnosis, prognosis, and therapeutic interventions. Advances in genomic research have illuminated various pathways and associations that contribute to the development and progression of visual impairment.
Genetic Predisposition and Disease Progression
Section titled “Genetic Predisposition and Disease Progression”Genetic factors significantly influence the onset, severity, and long-term trajectory of progressive visual loss. Research indicates that specific early complement genes are associated with visual system degeneration in multiple sclerosis, highlighting a genetic predisposition to this particular manifestation of the disease[1]. Such genetic insights are vital for identifying individuals at higher risk, thereby enabling earlier interventions or more tailored monitoring protocols to potentially slow disease progression. Furthermore, common genetic variants, such as those linked toGPCPD1, have been found to influence the scaling of visual cortical surface area in humans, suggesting a genetic basis for structural variations within the visual system that could predispose individuals to or affect the course of visual decline [12].
In neurodegenerative disorders like progressive supranuclear palsy (PSP), genetic determinants play a critical role in modifying disease phenotype and overall survival, which can indirectly impact the progression of visual symptoms frequently observed in these conditions[3]. Genomic analyses of visual cognition also underscore the genetic underpinnings of complex visual processing, indicating that genetic variation can influence not only structural integrity but also the functional aspects of vision [4]. These collective findings contribute to a more personalized medicine approach, where an individual’s genetic profile can help forecast the progression of visual loss and guide prognostic discussions with patients and their families.
Diagnostic Utility and Monitoring Strategies
Section titled “Diagnostic Utility and Monitoring Strategies”Genetic information offers substantial diagnostic utility for progressive visual loss, especially when integrated with thorough clinical assessments. The identification of associations between early complement genes and visual system degeneration in multiple sclerosis can assist in diagnosing specific subtypes or manifestations of visual impairment within complex neurological conditions[1]. These genetic markers, alongside crucial clinical factors such as age, disease duration, and a history of optic neuritis, contribute to a comprehensive risk assessment, allowing clinicians to better understand an individual’s susceptibility and potential disease course[1].
Beyond initial diagnosis, these genetic and clinical parameters are indispensable for developing effective monitoring strategies. The consistent assessment of visual acuity serves as a critical outcome measure in clinical trials for retinal diseases and is equally important for tracking progressive visual loss across various etiologies[1]. By closely monitoring individuals with identified genetic predispositions or those at high risk due to comorbidities like multiple sclerosis or progressive supranuclear palsy, clinicians can detect subtle changes earlier, adjust treatment plans promptly, and potentially mitigate further visual decline[1].
Comorbidities, Overlapping Phenotypes, and Therapeutic Implications
Section titled “Comorbidities, Overlapping Phenotypes, and Therapeutic Implications”Progressive visual loss often manifests as a component of broader neurodegenerative disorders, highlighting significant comorbidities and overlapping phenotypes that are crucial for clinical management. Conditions such as multiple sclerosis are directly associated with visual system degeneration, with genetic factors like early complement genes contributing to this specific pathology[1]. Similarly, progressive supranuclear palsy (PSP), a tauopathy, is linked to common genetic variants that influence its risk and phenotype, frequently including visual disturbances as part of its complex presentation [2]. The understanding that complement and microglia mediate early synapse loss in models of Alzheimer’s disease further emphasizes the interconnectedness of neuroinflammatory and neurodegenerative processes across different conditions that can ultimately impact the visual system[1].
These associations are fundamental for informed treatment selection and the development of targeted prevention strategies. By recognizing the underlying genetic and pathological links between progressive visual loss and related conditions, clinicians can pursue personalized medicine approaches. For example, therapies designed to target complement pathways or tau pathology, guided by genetic risk factors and the specific neurodegenerative context, could potentially slow disease progression or alleviate visual symptoms[1]. This integrated perspective allows for more holistic patient care, addressing visual decline within the comprehensive framework of a patient’s overall neurological health and genetic susceptibility.
Frequently Asked Questions About Progressive Visual Loss
Section titled “Frequently Asked Questions About Progressive Visual Loss”These questions address the most important and specific aspects of progressive visual loss based on current genetic research.
1. My grandparent slowly lost their sight. Will I too?
Section titled “1. My grandparent slowly lost their sight. Will I too?”Progressive visual loss often has a genetic component, meaning a predisposition can run in families. While it’s not a guarantee, if your grandparent’s condition was linked to specific genetic variants, you might have an increased risk. Understanding these family patterns helps in early monitoring and potential preventative strategies.
2. My sibling has poor vision, but mine is good. Why?
Section titled “2. My sibling has poor vision, but mine is good. Why?”Even within families, genetic inheritance can vary significantly. You and your sibling might have inherited different combinations of genetic variants associated with visual system degeneration, such as those linked to conditions like progressive supranuclear palsy. Environmental factors and other genetic influences also play a role in how these predispositions manifest in each individual.
3. Can I do anything now to prevent future vision loss?
Section titled “3. Can I do anything now to prevent future vision loss?”Identifying your individual genetic profile through screening can help determine if you’re at a higher risk. This knowledge allows for earlier monitoring and potentially the implementation of preventative strategies tailored to your specific genetic makeup. While genetics play a role, lifestyle choices and early intervention are also important.
4. Is a DNA test useful for understanding my future eyesight?
Section titled “4. Is a DNA test useful for understanding my future eyesight?”Yes, genetic screening can be very useful. It can identify specific genetic variants that are associated with progressive visual loss, such as early complement genes or those linked to conditions like progressive supranuclear palsy. This information can help identify your risk, allow for earlier monitoring, and potentially guide personalized preventative measures or future treatment decisions.
5. Why do some people lose vision much faster than others?
Section titled “5. Why do some people lose vision much faster than others?”The rate of visual decline can be influenced by specific genetic variants. For instance, in conditions like progressive supranuclear palsy, certain genetic determinants have been identified that impact survival and likely progression speed. Your unique genetic profile, combined with environmental factors, can dictate how quickly visual loss progresses.
6. Does my family’s background affect my vision loss risk?
Section titled “6. Does my family’s background affect my vision loss risk?”Yes, genetic findings are often influenced by ancestry, meaning your ethnic background can affect your specific risk. Many genetic studies have focused on populations of European descent, and the genetic architecture can differ across diverse ethnic groups. Understanding your family’s background can help contextualize your potential genetic predispositions and risks.
7. Does everyday stress make my eyesight worse over time?
Section titled “7. Does everyday stress make my eyesight worse over time?”While progressive visual loss involves complex interactions with environmental factors, the research doesn’t specifically link everyday stress directly to visual decline. However, the development of such complex traits is rarely solely genetic. It’s plausible that overall well-being, including managing stress, contributes to general health which can indirectly support visual health.
8. If I start losing vision, can doctors predict how fast it will get bad?
Section titled “8. If I start losing vision, can doctors predict how fast it will get bad?”Yes, understanding your genetic profile can significantly help doctors predict the progression of visual loss. For example, specific genetic variants associated with diseases like progressive supranuclear palsy have been shown to influence disease trajectory and survival. This genetic insight allows for more informed predictions and personalized treatment planning.
9. Can healthy living really protect my vision from genetic risks?
Section titled “9. Can healthy living really protect my vision from genetic risks?”Progressive visual loss is a complex trait, meaning it’s rarely solely determined by genetics; environmental factors play an intricate role. While research doesn’t detail specific “healthy living” interventions, it emphasizes the gene-environment interaction. Therefore, maintaining a healthy lifestyle can potentially mitigate some genetic predispositions and support overall visual health.
10. Why do some vision loss treatments work better for others?
Section titled “10. Why do some vision loss treatments work better for others?”This is a core principle of personalized medicine. Your unique genetic profile can influence how you respond to treatments. By understanding the specific biological pathways involved in your visual decline, which are often genetically determined, doctors can guide the development of targeted therapies that are more effective for you.
This FAQ was automatically generated based on current genetic research and may be updated as new information becomes available.
Disclaimer: This information is for educational purposes only and should not be used as a substitute for professional medical advice. Always consult with a healthcare provider for personalized medical guidance.
References
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[4] Chen, B. et al. “Genomic analyses of visual cognition: perceptual rivalry and top-down control.” J Neurosci, vol. 38, no. 45, 2018, pp. 9668–9678.
[5] Kouri, N et al. “Latent trait modeling of tau neuropathology in progressive supranuclear palsy.” Acta Neuropathol, vol. 141, no. 5, 2021, pp. 741-756.
[6] Grondin, Y et al. “Genetic Polymorphisms Associated with Hearing Threshold Shift in Subjects during First Encounter with Occupational Impulse Noise.” PLoS One, vol. 10, no. 6, 2015, p. e0129113.
[7] Praveen, K et al. “Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.” Commun Biol, vol. 5, no. 1, 2022, p. 553.
[8] Lahti, J et al. “Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning.” Mol Psychiatry, vol. 28, no. 1, 2023, pp. 165-175.
[9] Choe, EK et al. “Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits.” Sci Rep, vol. 12, no. 1, 2022, p. 2043.
[10] Beck, Roy W., et al. “Visual acuity as an outcome measure in clinical trials of retinal diseases.”Ophthalmology, vol. 114, 2007, pp. 1804–9.
[11] Trip, SA, et al. “Retinal nerve fiber layer axonal loss and visual dysfunction in optic neuritis.” Ann Neurol, vol. 58, 2005.
[12] Bakken, T. E., et al. “Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans.” Proc Natl Acad Sci U S A, vol. 109, no. 10, 2012, pp. E688-95. PMID: 22343285.
[13] Weiss, Robert B., et al. “Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in Duchenne muscular dystrophy.”Annals of Neurology, PMID: 30014611.
[14] Tao, Fan, et al. “Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.”Journal of Neuromuscular Diseases, PMID: 30958311.
[15] Wright, Daniel J., et al. “Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility.”Nature Genetics, PMID: 28346444.