Block 16 Vitreoretinal, Retinal, and Choroidal Dystrophies Flashcards
(160 cards)
1
Q
Hereditary, metabolic diseases that involve the retina and affect both eyes are known as ____?
A
Retinal dystrophies
2
Q
Retinal dystrophies primarily affect which region/layer of the retina?
A
Outer retina - photoreceptors and RPE
3
Q
What is the most common hereditary fundus disorder?
A
Retinitis pigmentosa
4
Q
What is more defective in Retinitis Pigmentosa, rods or cones?
What kind of dystrophy is this classified as?
A
- Rods more defective
- “Rod-cone Dystrophy”
5
Q
What does it mean if a retinal dystrophy is classified as a “Cone-Rod Dystrophy”
A
Cones more defective/affected than rods
6
Q
Is typical or atypical Retinitis Pigmentosa more likely to be associated with a systemic condition?
What is the most common systemic association?
A
- Atypical
- Usher’s Syndrome
7
Q
What is the presenting symptom in typical retinitis pigmentosa?
A
Nyctalopia (night-blindness)
8
Q
Most patients with typical retinitis are symptomatic by what age?
A
30
9
Q
What is the classic triad of fundus changes in typical retinitis pigmentosa?
A
- Retinal “bone-spicule” changes
- Narrowing of retinal arterioles (attenuation)
- Waxy optic disc pallor
10
Q
What are 3 possible presentations of atypical retinitis pigmentosa?
A
- RP Sine Pigmento
- Sector RP
- Retinitis punctata albescens
11
Q
Scattered whitish spots, mostly near equator refers to which type of atypical RP?
A
- Retinitis Punctata Albescens
12
Q
Pigmentary changes in only a quadrant or 2 refers to which type of atypical RP?
Which quadrant is most commonly involved?
A
- Sector RP
- Inferior quadrant
13
Q
Peripheral lipid deposition in retinitis pigmentosa indicates early or late stage?
A
Late
14
Q
Exudative retinal detachment in retinitis pigmentosa indicates early or late stage?
A
Late
15
Q
What type of cataract is more common in all types of retinitis pigmentosa?
A
Posterior subcapsular cataract
16
Q
What type of refractive error is common in retinitis pigmentosa?
A
Myopia
17
Q
How is the optic nerve often affected in retinitis pigmentosa?
A
Optic nerve drusen
18
Q
Retinitis pigmentosa may be associated with an early or late PVD (post. vitreous detachment)?
A
Early PVD in retinitis pigmentosa
19
Q
Peripheral lipid deposition and exudative retinal detachment in retinitis pigmentosa is similar to what other disease?
A
Coat’s disease
20
Q
Hearing loss + retinitis pigmentosa is known as ___
A
Usher’s Syndrome
21
Q
Most systemic associations with retinitis pigmentosa are _____ disorders?
A
Metabolic disorders
22
Q
What disease accounts for 50% of blind and deaf individuals?
A
Usher’s Syndrome
23
Q
Where is a scotoma found initially in retinitis pigmentosa?
A
Mid-peripheral
24
Q
How is an ERG affected by retinitis pigmentosa?
A
Scotopic function reduced early and extinguished late
25
Is dark adaptation shortened or prolonged in retinitis pigmentosa?
Prolonged
26
How can associated CME be treated in retinitis pigmentosa?
Oral acetazolamide
27
What is the most effective treatment for retinitis pigmentosa?
No universally effective treatment
28
A genetic disorder that affects both rods and cones from birth is known as ___?
Leber's Congenital Amaurosis
29
What do parents often notice in a newborn that causes them to seek care in Leber's Congenital Amaurosis?
Wandering eyes
30
How are pupils affected in Leber's Congenital Amaurosis?
Little or no response to light
31
How is the fundus affected initially in Leber's Congenital Amaurosis?
May appear normal initially
32
Is Leber's Congenital Amaurosis bilateral or unilateral?
Bilateral
| ALL retinal dystrophies are bilateral
33
Is an ERG affected in Leber's Congenital Amaurosis?
Severly reduced or extinguished
34
Oculodigital syndrome can lead to _____ in Leber's Congenital Amaurosis
Enophthalmos
35
What are 4 ocular changes over time in Leber's Congenital Amaurosis?
1. Progressive narrowing of retinal arterioles
2. RPE degeneration
3. Macular pigmentation or atrophy
4. Optic nerve atrophy
36
Oculodigital syndrome leading to enophalmos is a sign of ____
Leber's Congenital Amaurosis
37
Synthesis of _____ is abnormal in Albinism?
Melanin
38
What is it called if a genetic disorder with abnormal melanin synthesis affects the eyes, skin and hair?
Oculocutaneous albinism
39
What enzyme is affected in Albinism?
Tyrosinase
40
How is ocular albinism inherited?
X-linked
41
Which type of albinism has no melanin production at all throughout the body?
Oculocutaneous Albinism - Tyrosinase negative (complete)
42
Which type of albinism has reduced melanin production throughout the body?
Oculocutaneous Albinism - Tyrosinase positive (incomplete)
43
Are males or females more commonly affected with ocular albinism?
Males (x-linked inheritance)
44
What signs do female carriers of ocular albinism show?
Little to no ocular changes
45
What signs do males with ocular albinism show?
Iris and fundus hypo pigmentation
46
A newborn with little to no response to light in both pupils most likely has _____
Leber's Congenital Amaurosis
47
Is ocular albinism usually bilateral or unilateral?
Bilateral
| ALL retinal dystrophies involve both eyes!
48
Why is VA reduced in ocular albinism?
Foveal hypoplasia
49
What type of refractive error is common in ocular albinism?
High - myopia or hyperopia
50
Reduced or absent stereopsis + fundus showing variable choroidal vessels bilaterally is most likely _____
Ocular Albinism
51
What test can be used to show tyrosinase activity?
Hair bulb incubation after age 5
52
What is a patient with ocular albinism at increased risk for?
Basal cell carcinoma and squamous cell carcinoma
53
The most common genetic cause of vision loss in infants and children is _____
Leber's Congenital Amaurosis
54
What common complaint/symptom may require special lenses in Ocular Albinism?
Photophobia (tinted lenses)
55
When are hematologic consultations indicated in albinism?
Tyrosinase positive
56
An important component for normal eye function that is defective in ocular albinism is _____
Melanin
57
What is the most common macular dystrophy?
Stargardt's Disease
58
What is the most common hereditary fundus disorder?
Retinitis Pigmentosa
59
A patient with a hypopigmented fundus and iris + have light skin that can sometimes darken most likely has ______?
Which form?
- Oculocutaneous Albinism
| - Tyrosinase positive (incomplete)
60
Stargardt's disease occurs due to _______?
Abnormal accumulation of lipofuscin within RPE
61
How is vision affected in Stargardt's disease?
Gradual impairment of vision in children
62
When might Stargardt's disease not be discovered until adult eye exam?
If macula is not involved and therefore vision not impaired
63
Initially, the fundus appears ______ in Stargardt's disease.
Normal
64
How does the appearance of the macula progress in Stargardt's disease?
Beaten bronze appearance, then bulls eye atrophy
65
What appears at posterior pole in Starboard's disease?
Light colored flecks
66
What does "fundus flavimaculatus" mean?
Light colored flecks that extend to mid-periphery without significant macular changes
67
Patients affected with ______ are at increased risk for basal or squamous cell carcinoma.
Does the condition affect one or both eyes?
- Albinism
| - Both eyes (retinal dystrophy!!)
68
What is a characteristic finding with fluorescein angiography in Stargardt's Disease?
"dark choroid" overall, with window defect at macula
69
When does visual loss tend to accelerate in Stargardt's Disease?
When it reaches 20/40
70
When does vision loss tend to stabilize in Stargard'ts Disease?
20/200
71
How is EOG affected in Stargardt's Disease?
Abnormal in advanced disease
72
What is the characteristic appearance of fundus autofluorescence in Stargardt's Disease?
Macular hypoautofluorescence with surrounding hyperautofluorescent flecks
73
What can develop in Stargardt's Disease and have devastating effect on vision?
CNV (choroidal neovascularization)
74
A genetic disorder that affects primarily cones is ________?
Progressive cone dystrophy
75
Progressive cone dystrophy universally leads to _____?
Severe central vision loss (20/200 or worse)
76
What symptom may follow vision loss in progressive cone dystrophy?
Photophobia
77
Gradual deterioration of _______ in progressive cone dystrophy? (2 answers)
Central vision and Color vision
78
Progressive cone dystrophy typically presents in what age group?
Teens or young adults
79
Describe appearance of macula initially in progressive cone dystrophy
Normal
80
How does the appearance of the macula progress in progressive cone dystrophy?
Normal --> Bulls eye --> geographic atrophy
81
Retinitis pigmentosa is the most common ______
Hereditary fundus disorder
82
How could RPE changes be detected before clinical signs in progressive cone dystrophy?
Fluorescein angiography
83
Annular changes surrounding fovea in Stargardt's disease can be displayed by ____?
Fundus autofluorescence
84
A non-progressive genetic disorder that is characterized by defective night vision is ______
Congenital Stationary Night Blindness
85
List 3 potential appearances of fundus in Congenital Stationary night blindness.
1. Normal
2. Abnormal: Oguchi disease
3. Abnormal: Fundus albipunctatus
86
What condition may be associated with fundus flavimaculatus?
Stargardt's Disease
87
Golden yellow fundus in light adapted state that becomes normal after prolonged dark adaptation describes _____?
Oguchi disease in Congenital Stationary Night Blindness
88
How is vision affected in fundus albipunctatus?
Functional impairment limited to scotopic vision only. Normal VA's good
89
Fundus with tiny yellow/white spots at posterior pole that extend into periphery + normal blood vessels, optic disc, and peripheral fields describes _____
Fundus albipunctatus in Congenital Stationary Night Blindness
90
Deposition of crystals in retina and superficial peripheral cornea is _______
Bietti's Crystalline Dystrophy
91
A possible cause of Betti's crystalline dystrophy is ____?
Error in systemic lipid metabolism
92
An early sign of Bietti's crystalline dystrophy is ____
fine yellow/white crystals scattered throughout posterior fundus
93
A sign of progression of Bietti's crystalline dystrophy is _____
Localized atrophy of RPE and choriocapillaris at macula -->
Diffuse atrophy of choriocapillaris + decrease in size and number of crystals -->
gradual confluence and expansion of atrophy -->
Chorioretinal atrophy (end stage)
94
Hypofluorescent patches on fluorescein angiography corresponds to ____
Choriocapillaris loss and intact overlying retinal vessels
95
Stargardt's Disease is the most common _______
macular dystrophy
96
Visual fields are constricted in ______ dystrophy that possibly involves an error in systemic lipid metabolism?
Bietti's Crystalline Dystrophy
97
Mutations in several genes that encode certain forms of Type 4 collagen can result in _______
Alport Syndrome
98
Type 4 collagen is a major ________ component.
Basement membrane
99
Chronic renal failure + deafness are common characterizations of which retinal dystrophy?
Alport Syndrome
100
Fundus albipunctatus is associated with ______?
Fundus flavimaculatus is associated with _____?
Albipunctatus: Congenital stationary night blindness
Flavimaculatus: Stargardt's disease
101
How is an ERG affected in Alport Syndrome?
Normal
102
Scattered, subtle yellow flecks in perimacular area with larger peripheral flecks describes the appearance of _____?
Is this unilateral or bilateral?
Alport syndrome
Bilateral - all retinal dystrophies bilateral!
103
An asymptomatic condition with numerous diffusely distributed yellow/white polymorphous lesions that spare fovea and spread to far periphery is most likely _____
Familial benign fleck retina
104
The flecks seen on the fundus in familial benign fleck retina are probably composed of _____?
Lipofuscin
105
The second most common macular dystrophy is?
Best's (Vitelliform) Macular Dystrophy
106
FA showing "dark choroid" overall, with window defect at macula
Stargardt's disease
107
A genetic disorder in which an RPE lesion at the posterior pole eventually disrupts the macula is known as ____?
Best's (Vitelliform) Macular Dystrophy
108
An asymptomatic condition with numerous diffusely distributed yellow/white polymorphous lesions that spare fovea and spread to far periphery has what inheritance pattern?
Autosomal recessive
| Familial benign fleck retina
109
What are symptoms of Best's macular dystrophy in early stages?
Asymptomatic in early stages
110
Anterior lenticonus and posterior polymorphous corneal dystrophy may be associated with which retinal dystrophy?
Alport Syndrome
111
When does vision become impaired in Best's macular dystrophy?
What signs are associated with this stage?
- Vitelliruptive Stage
| - Lesion breaks up and forms "scrambled egg" appearance
112
What is the first sign seen in Best's macular dystrophy?
| What stage is this associated with?
- Egg-yolk lesion in early childhood made of excessive lipofuscin-like material
- Vitelliform stage
113
Partial reabsorption of a lesion around puberty is a common sign of _________ (overall disease) during ________ stage.
- Best's Vitelliform Macular Dystrophy
| - Pseudohypopyon stage
114
What symptom occurs when the lesion breaks up and forms "scrambled egg" appearance in Best's macular dystrophy?
Impaired vision
115
End-stage disease is classified under what stage of Bests macular dystrophy?
Atrophic stage
116
When does the lesion disappear in best's macular dystrophy? What is left behind?
- Atrophic stage
| - Atrophic macula left behind
117
What type of cells/layer of retina is involved in Best's Macular Dystrophy?
RPE
118
What age does atrophic stage of Best's macular dystrophy usually occur?
Middle age
119
Eventual loss of central vision in Best's macular dystrophy is due to ____
Geographical atrophy and/or subretinal fibrosis/scarring
120
What can occur with subretinal fibrosis/scarring in Best's macular dystrophy?
CNV
121
How is EOG affected in Best's macular dystrophy?
- Abnormal in all stages
| - Even abnormal in carriers of disease with normal fundus
122
How is ERG affected in Best's macular dystrophy?
Normal
123
What should be provided for patient's to take home with them if they have Best's macular dystrophy
Amsler grid
124
Vitelliform lesions refer to what characteristic appearance?
Egg-yolk
125
Are lesions single or multifocal in Best's Vitelliform Macular Dystrophy?
Single
126
What age does Best's vitelliform macular dystrophy typically present in?
Childhood, and progresses throughout middle age
127
Multi-focal egg-yolk lesions seen in adults is ______ and their EOG is _______ and family history is ______
- Vitelliform lesions without best's disease
- normal EOG
- no family history
128
A group of related genetic diseases of RPE that display various distinct patterns of lipofuscin deposits within the macula are known as ____
Pattern dystrophies
129
How does the egg-yolk lesion in adult-onset macular vitelliform dystrophy differ from best's? (2 answers)
- Lesion is smaller in adult-onset (less than 1/2 disc diameter)
- Lesion does not progress through typical stages or result in macular atrophy
130
What are the 5 stages of Best's macular dystrophy?
1. Pre-Vitelliform
2. Vitelliform
3. Pseudohypopyon
4. Vitelliruptive
5. Atrophy
131
A single egg-yolk lesion that presents in adulthood is most likely a _______ (type of condition, not specific name)
Pattern dystrophy
132
How are ERG's affected in pattern dystrophies?
Normal
133
What is the most common pattern dystrophy?
Butterfly macular dystrophy
134
A tri-radiate or spoke-like patterned lesion with a rim of RPE atrophy surrounding it is most likely composed of _____? And is called?
- Composed of lipofuscin
| - Butterfly macular dystrophy
135
What test shows the RPE atrophy in Butterfly macular dystrophy?
Fluorescein angiography
136
Fundus flavimaculatus that appears in adulthood and does not have a "dark choroid" with fluorescein angiography is most likely associated with _____?
Pattern dystrophy simulating fundus flavimaculatus
137
What is fundus flavimaculatus?
light colored flecks that appear at macular pole and extend to mid-periphery without significant macular changes
138
Why does pattern dystrophy simulating fundus flavimaculatus not have a dark choroid appearance with fluorescein angiography, like it does in _______ disease?
- Because it is a pattern dystrophy and therefore the lipofuscin deposits are only affecting RPE at macula
- Stargardt's disease
139
A genetic disorder that leads to early-onset accumulation of macular drusen is ______?
Familial dominant drusen
140
When does accumulation of macular drusen typically begin in familial dominant drusen? When does it become symptomatic?
- Begins in teens
| - Symptomatic at 30-40
141
What causes eventual vision impairment in familial dominant drusen?
RPE degeneration/geographical atrophy. And occasionally CNV
142
Drusen that becomes more numerous with "honeycomb" appearance is characteristic of _____?
Familial dominant drusen
143
How is ERG affected in Familial dominant drusen?
normal
144
How is EOG affected in familial dominant drusen?
Subnormal in advanced disease
145
Central areolar choroidal dystrophy is a genetic disease characterized by slowly expanding macular atrophy without _____? (2 answers)
1. Lipofuscin
| 2. Drusen
146
Fundus changes are limited to what area of the retina in central areolar choroidal dystrophy?
Macula
147
List 3 signs of progression in central areolar choroidal dystrophy
1. Begins as pigmentary change at fovea
2. Well-circumscribed area of RPE and choriocapillaris loss at macula
3. Geographic atrophy
148
When is central vision impairment first noticed in central areolar choroidal dystrophy?
When does it become severe?
- First noticed at young adult
| - Severe by 50-70
149
How is the appearance of drusen described in familial dominant drusen?
Honeycomb
150
A genetic condition that involves central macular defects present at birth that rarely progress is most likely ____
North Carolina Macular Dystrophy
151
Are fundus findings better or worse than expected based on a patient's VA's with North Carolina Macular Dystrophy?
Fundus findings are more significant than expected
152
How common is north carolina macular dystrophy?
Rare
153
When do macular defects first appear in north carolina macular dystrophy?
Present at birth
154
Grade 1 north carolina macular dystrophy has what signs?
Fine druses-like deposits within RPE at macula
155
Grade 2 north carolina macular dystrophy has what signs?
Larger confluent deposits at macula
156
Grade 3 north carolina macular dystrophy has what signs?
Well-defined macular chorioretinal atrophy (coloboma-like)
157
A genetic disease with lack of drusen and lipofuscin in slowly expending macular atrophy is most likely ____
Central areolar choroidal dystrophy
158
Fine druses-like deposits within RPE at macula is Grade 1, 2, or 3 north carolina macular dystrophy?
Grade 1
159
Coloboma-like appearance is grade 1, 2, or 3 north carolina macular dystrophy?
Grade 3
160
Does north carolina macular dystrophy affect one or both eyes?
Both
All retinal dystrophies affect both eyes!
