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Retinal Dystrophies II (macular dystrophies) - PSD Block 16
Terms in this set (50)
What is a genetic disorder in which an RPE lesion at the posterior pole eventually disrupts the macula and is also known as "vitelliform" macular dystrophy (referring to an "egg yolk" appearance of characteristic lesion at one stage)?
Best's Macular Dystrophy
How does the disease process of Best's Macular Dystrophy go? Does it progress? Or does it remain stable?
The disease progresses through multiple stages (from childhood through middle-age), leading to eventual loss of central vision due to scarring or atrophy of macula in each eye.
What are the stages of Best's Macular Dystrophy?(5)
3. Pseudohypopyon stage
5. Atrophic stage
In which stage of Best's Macular Dystrophy are there the following: "egg-yolk" lesion developing in early childhood, composed of excessive lipofuscin-like material, and VA remains normal or is only mildly reduced (20/25 or 20/30)?
Which stage of Best's Macular Dystrophy presents as the following: patients are asymptomatic, there is a normal fundus appearance, and abnormal EOG responses are displayed?
What does an ERG measure?
ERG measures the function of RPE
In which stage of Best's Macular Dystrophy does the following present: partial reabsorption of the lesion and frequently takes place around puberty?
In which stage of Best's Macular Dystrophy does the following present: lesion breaks up forming a "scrambled egg" appearance, patients usually first notice visual impairment at this point, and it takes place post-puberty most often?
In which stage of Best's Macular Dystrophy does the following appear: lesion disappears leaving atrophic macula, subretinal fibrosis/scarring may occur, sometimes with CNV (Usually after age 40), and it represents the end stage of Best's Disease?
What is the prognosis for Best's Macular Dystrophy?
It is reasonably good until macular scarring or atrophy occurs (usually during middle-age)
How is the diagnosis made for Best's Disease?
Typical cases are easily diagnosed once characteristic fundus lesions appear
What can be very helpful in diagnosing equivocal cases of Best's Disease?
EOG is abnormal throughout all stages
Despite EOG being abnormal, what remains normal and is helpful with differentiating Best's Disease from other conditions?
ERG remains normal
What is it referred to when occasionally multifocal vitelliform lesions occur in adults with normal EOG and no family history?
Vitelliform lesions WITHOUT Best's Disease
How does vitelliform lesions without Best's disease appear? And what is the prognosis compared to Best's Disease?
Multiple lesions that don't affect the macula, are smaller than the egg yolk lesion, and appear along the arcades. The prognosis is better than Best's.
What disease is managed by the following: Recommended familial evaluation and/or genetic counseling when appropriate, occupational counseling, periodic examinations, home Amsler grid with instructions, and low vision aids may become useful?
The prognosis for Best's Disease is refined over time due to what?
What is an associated problem with Best's Disease, that is luckily rare, but still requires these patients to get periodic examinations?
What refers to a group of related genetic diseases of the RPE, displaying various distinct "patterns" of lipofuscin deposition within the macula?
All pattern dystrophies share what two characteristics?
Manifest later in life (adulthood)
** and follow a relatively benign course
Which is an AD disorder that results in accumulation of lipofuscin at the macula in various morphologies, does not have a characteristic lesion in early age, is often discovered by chance, and doesn't tend to have a major effect on vision?
How does Pattern Dystrophy present and when is it often found?
It is often asymptomatic and discovered by chance in a middle-aged adult.
What is very helpful in determining pattern dystrophy in patients?
Genetic testing has been very helpful because there can be various gene defects that can cause it.
What represents one particular manifestation of Pattern Dystrophy, presents in adulthood with macular lesion similar to that seen in juvenile Best's Disease, and does NOT result in Macular atrophy?
Adult-Onset Macular Vitelliform Dystrophy
What are two things about the lesion seen in Adult-Onset Macular Vitelliform Dystrophy that distinguish it from Best's Disease?
The yellow "egg yolk" lesion is smaller (<1/2 DD)
The lesions do not progress through typical stages
What distinguishes Adult-Onset Macular Vitelliform Dystrophy from Best's? (Onset, Progression, Size, Visual Outcome)
It doesn't show up until later in life, it doesn't progress, it is usually smaller to start with, and it doesn't cause vision loss
What is the reportedly the most commonly observed pattern of pattern dystrophy, involves lipofuscin deposition creating a triradiate "butterfly" pattern, has a rim of RPE atrophy surrounding the pigmented pattern which is more easily appreciated by FA, and rarely has a significant affect on vision?
"Butterfly" Macular Dystrophy
What is another manifestation of Pattern Dystrophy that exhibits scattered light-colored lesions similar to those of fundus flavimaculatus, does not show up until adulthood, does not display "dark choroid" with FA, and has little affect on vision in most instances?
Simulating fundus flavimaculatus
What is the key in OD management of Pattern Dystrophy?
Making the correct diagnosis - there is no significant visual loss with this condition. So, making the right diagnosis will help prevent unnecessary testing/referrals.
In what way are the results of electrodiagnostic testing useful in uncertain cases of Pattern Dystrophy?
ERG is universally normal (Photoreceptor function) and EOG is occasionally abnormal (RPE function)
Why is it important that review of systems not be neglected in management of Pattern Dystrophy?
Because it is noted to occur in association with various systemic conditions.
What is a genetic disorder which leads to early-onset accumulation of macular drusen (as in AMD)?
Familial Dominant Drusen (autosomal dominant disorder)
When does drusen often start appearing with Familial Dominant Drusen?
Drusen may start appearing during teen years
What condition goes with the following: over time, lesions become more numerous and acquire a "honeycomb" appearance, patients become symptomatic during 30s or 40s (RPE degeneration/geographic atrophy), and CNV may occasionally develop?
Familial Dominant Drusen
How would you differentiate AMD Drusen and Familial Dominant Drusen?
Usually with AMD, it will be pretty much isolated to the macula. With Familial Dominant Drusen, it will be primarily at the macula, but some might be right up against the optic nerve or nasal to it.
What causes degeneration of RPE with Drusen?
Drusen are accumulating underneath the RPE. Once you get a lot of it, you begin to have degeneration of RPE.
What is a genetic disease that is characterized by slowly expanding macular atrophy (without drusen, lipofuscin, etc.)?
Central Areolar Choroidal Dystrophy
What is the course of fundus changes (macula only) that progress over decades in central areolar choroidal dystrophy? (3 steps)
1. Begins as pigmentary changes at the fovea
2. Progresses to a well-circumscribed area of RPE and choriocapillaris loss at the macula
3. Eventually results in geographic atrophy (roundish area around macula with sharp edges to it)
When is central visual impairment first noticed in central areolar choroidal Dystrophy? When does it become severe?
It is noticed as a young adult. It becomes severe by age 50-70.
How does chorioretinal (geographic) atrophy in central areolar choroidal dystrophy differentiate from a full-thickness hole?
There is tissue present, but not a whole lot of it overlying the sclera. Most of the RPE and melanocytes are gone and that is why you can see through to the sclera.
What is a very rare Macular Dystrophy that was first described/named in the 1970s and is characterized by central Macular defects that are present at birth but rarely progress, and are not associated with any systemic manifestations?
North Carolina Macular Dystrophy
In which condition are fundus findings likely more dramatic than expected from VA (ranges from 20/20 to 20/200 average ~20/50)?
North Carolina Macular Dystrophy
What is the treatment for North Carolina Macular Dystrophy?
There is no treatment apart from that for CNV and LV services (if either become necessary).
What Grade (I, II, or III) of North Carolina Macular Dystrophy involves larger confluent deposits at the macula?
What Grade (I, II, or III) of North Carolina Macular Dystrophy involves fine drusen-like deposits within the RPE at the macula?
What Grade (I, II, or III) of North Carolina Macular Dystrophy involves well-defined Macular chorioretinal atrophy (coloboma-like in appearance)?
Why is is that with North Carolina Macular Dystrophy in Grade III the VA of a patient may be 20/60?
Because of eccentric fixation. Since the lesions occur early on in life, they learn to fixate eccentrically a lot better than if someone were to develop something like this later on.
If someone has vision way better than you would expect based off their fundus appearance, and it is non-progressive what is the condition you would suspect?
North Carolina Macular Dystrophy
If someone had Grade I North Carolina Macular Dystrophy, what is a test you could run to see the drusen at the macula? How would it appear?
You would do FAF and it would appear as hyperfluorescent.
How will a dystrophy typically present? (4)
3. Acquired early on in life
4. Family history of condition
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