Podcast
Questions and Answers
What is the common abbreviation for Retinal Dystrophy due to RP?
What is the common abbreviation for Retinal Dystrophy due to RP?
RP
What is Nyctalopia characterized by?
What is Nyctalopia characterized by?
Is Glaucoma the second leading cause of bilateral blindness worldwide?
Is Glaucoma the second leading cause of bilateral blindness worldwide?
True
In Open Angle Glaucoma, there is chronic progressive disease with decreased outflow of _ fluid from the eye.
In Open Angle Glaucoma, there is chronic progressive disease with decreased outflow of _ fluid from the eye.
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What is the visual acuity criteria for Low Vision?
What is the visual acuity criteria for Low Vision?
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Is Low Vision automatically considered visually impaired?
Is Low Vision automatically considered visually impaired?
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What lifestyle modification is recommended as the best prevention for Diabetic Retinopathy to progress?
What lifestyle modification is recommended as the best prevention for Diabetic Retinopathy to progress?
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What is the term for a significantly reduced or total loss of color discrimination?
What is the term for a significantly reduced or total loss of color discrimination?
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Match the types of Achromatopsia with their descriptions:
Match the types of Achromatopsia with their descriptions:
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What is the main reason for the death of photoreceptors in Retinitis Pigmentosa?
What is the main reason for the death of photoreceptors in Retinitis Pigmentosa?
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Which inheritance pattern is the most common for Retinitis Pigmentosa?
Which inheritance pattern is the most common for Retinitis Pigmentosa?
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Retinitis Pigmentosa can be divided into two groups: Syndromic and Non-Syndromic.
Retinitis Pigmentosa can be divided into two groups: Syndromic and Non-Syndromic.
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Retinitis Pigmentosa is commonly abbreviated as ___.
Retinitis Pigmentosa is commonly abbreviated as ___.
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What type of gene therapy is used in Retinitis Pigmentosa?
What type of gene therapy is used in Retinitis Pigmentosa?
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Study Notes
Low Vision
- WHO definition: Visual acuity of 20/70 or worse and/or a visual field of 20 degrees or less.
ODP 414
Diabetic Retinopathy (DR)
- Preventing DR progression with controlled blood glucose level
- Lifestyle modifications:
- Comprehensive eye examination (yearly, 6-12 months, or 2-4 months depending on severity)
- Refractive error management with spectacles or contact lenses
- Treatment options:
- Laser photocoagulation (stops abnormal vessel growth and treats hemorrhages and macular edema)
- Injection (Anti-VEGF and Corticosteroids)
Achromatopsia
- Definition: Inherited or acquired disorder characterized by significantly reduced or total loss of color discrimination
- Also known as 'total color blindness' or 'monochromacy'
- Types:
- Complete Achromatopsia (Rod Monochromatism)
- All types of cones are either non-functional or missing
- Occurs in around 0.003% of people
- Autosomal recessive inheritance
- Incomplete Achromatopsia (Cone Monochromatism)
- Less severe than rod monochromacy
- Visual acuity preserved (around 20/60-20/200)
- Can be categorized as Blue Cone Monochromacy, Green Cone Monochromacy, or Red Cone Monochromacy
- Cerebral Achromatopsia
- Problem lies in the brain, not in the eyes
- Total color blindness due to brain damage
- Complete Achromatopsia (Rod Monochromatism)
Retinopathy Secondary to Diabetes
- Causes disability and handicap
- Symptoms:
- Completely unable to distinguish colors
- Reduced visual acuity
- Hemeralopia (severe light sensitivity)
- Nystagmus
- Central scotoma
Diagnosis
- Color Vision Testing
- Electroretinogram (ERG)
- Molecular Genetic Testing
Treatment & Management
- Gene Therapy (Early Phase)
- Filters
- Magnifiers
Retinitis Pigmentosa (RP)
- Definition: Collection of genetic retinal disorders involving degeneration of photoreceptors
- Causes progressive vision loss
- Symptoms:
- Nyctalopia
- Reduced visual field
- Photopsia
- Glare
- Difficulty in dark and light adaptation
- Bony Spicule Deposits
- Arterial Narrowing
- Optic Disc Pallor
- Inheritance patterns:
- Autosomal Recessive
- Autosomal Dominant
- X-linked
- Mitochondrial Inheritance
- Prevalence: 1 in 3000-5000 people
- Carriers estimated to be 1 in 100 people### Retinitis Pigmentosa (RP)
- Photopsia is a common symptom of RP and other degenerative retinal diseases
- Vitamin A supplements have minimal effect on slowing the progression of RP, and large doses are discouraged
- ABCA4 form of RP can worsen with high doses of Vitamin A
Gene Therapy
- Uses a viral vector to administer CRISPR mechanism to correct defective genes in photoreceptors
- Luxturna Gene Therapy is the first FDA-approved gene therapy for RP, specifically for RPE65 type of RP
- Approved by the FDA in January 2018 for biallelic RPE65 mutation in people over 1 year old
Stem Cell Therapy
- Involves converting skin cells to fibroblasts and then to photoreceptors, which can be reimplanted into the retina
- Aims to replace damaged photoreceptors in RP patients
Bionic Chips
- Argus II is a three-part device that allows some perception of light and motion in patients with RP
- Can help improve daily functioning, but has limitations and is not a cure for RP
Impact of RP
- Can lead to blindness, affecting daily life, independence, and psychological well-being
- Counselling and support are essential for patients with RP
Glaucoma
Definition
- A group of ocular diseases associated with progressive optic nerve neuropathy
- Characterized by increased intraocular pressure (IOP) and optic nerve damage
Types of Glaucoma
- Open Angle Glaucoma (OAG)
- Angle Closure Glaucoma (ACG)
- Normal Tension Glaucoma
Prevalence
- 57.5 million people worldwide have glaucoma
- 8.4 million people are bilaterally blind due to glaucoma
- OAG is the most common type, but ACG is more likely to lead to blindness
Risk Factors
- Age: prevalence is higher in the geriatric population
- Race: African-Americans and Hispanics/Latinos are at higher risk
- Family History: 13-25% of people with glaucoma have a positive family history
Open Angle Glaucoma (OAG)
- Chronic progressive disease with decreased aqueous outflow
- Can lead to optic nerve damage and visual field loss
- Elevated IOP causes compression of ganglion cell axons, reducing blood flow to the posterior pole of the optic nerve, and activating cellular damage proteins
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Description
This quiz covers the basics of low vision, visual impairment, and its effects on daily life. Topics include visual acuity, visual field, and its impact on daily activities.
