Chapter 29: The Eye Flashcards

1
Q

Many blinding conditions that result from pathologic angiogenesis (i.e., corneal neovascularization and diabetic retinopathy) can be sucessfull treated using what?

A

VEGF antagonists

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Proptosis of the eye is representative of which kind of lesions within the orbit?

A

Space-occupying lesions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Enlargement of the lacrimal gland from inflammation or neoplasm produces proptosis which displaces the eye in which direction?

A

Inferiorly and medially

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are the 2 most common primary tumors of the optic nerve and what type of proptosis do they produce?

A
  • Gliomas (especially pilocytic astrocytomas) and Meningiomas
  • Axial proptosis (eye bulges straight forward)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Axial proptosis is an important clinical manifestation of which thyroid disorder?

A
  • Graves disease —> Exophthalmos
  • Enargement of the extra-ocular muscles w/ increased glycosaminoglycans
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Uncontrolled sinus infections may spread to the orbit as an acute bacterial infection, this occurs most commonly in which patients?

A

Immunosuppressed or DKA (mucormycosis!)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

________-related disease should be excluded before declaring an orbital inflammation to be idiopathic

A

IgG4-related disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

The presence of necrosis and degenerating collagen along with vasculitis in orbital inflammation should raise the suspicion of which disease?

A

Wegener granulomatosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Idiopathic orbital inflammation is characterized histologically by?

A

Chronic inflammation and variable degrees of fibrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Which immune cells are typically part of the inflammatory infiltrate associted with idiopathic orbital inflammation?

A

Lymphocytes and plasma cells; occasionally eosinophils

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is the origin of the most frequently encountered primary neoplasms of the orbit?

A

Vascular in origin (capillary hemangioma of infancy and early adulthood, lymphangioma (children), and cavernous hemangioma (adults))

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Which 4 orbital masses are encapsulated?

A

1) Cavernous hemangioma
2) Pleomorphic adenoma of the lacrimal gland
3) Dermoid cyst
4) Neurilemmoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Drainage system of the sebaceous gland obstructed at the eyelid margin is called?

A

Blepharitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the most common malignancy of the eyelid?

A

Basal cell carcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Basal cell carcinoma tends to more commonly affect which 2 areas of the eyelid?

A
  • Lower eyelid
  • Medial canthus
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

When lipid extravasates into surrounding tissue and provokes a granulomatous response producing a lipogranuloma in the eyelid, this is known as?

A

Chalazion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Sebaceous carcinoma of the eyelid has a predilection for ______ spread and tends to spread first to the _______ and _______ nodes

A

Sebaceous carcinoma of the eyelid has a predilection for intraepithelial spread and tends to spread first to the submandibular and parotid nodes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What are the morphological characteristics of a basal cell carcinoma of the eyelid?

A

- Pearly nodules, telangiectatic vessles, central ulcer (“rodent ulcer”), rolled edges

  • Peripheral palisading

*Pearly w/ depressed central area

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Sebaceous carcinoma of the eyelide is most commonly seen in which gender/age?

What ethnicity is at higher risk?

A
  • Woman >40 yo
  • Asians
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

_______ spread of sebaceous carcinomas may mimic Bowenoid actinic keratosis in the eyelid and carcinoma in situ in the conjunctiva

A

Pagetoid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is the morphology of the neoplastic cell cytoplasms seen in sebaceous carcinoma of the eyelid?

A

“Foamy” cytoplasm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Which stain is considered the best for the diagnosis of sebaceous carcinomas of the eyelid?

A

Oil-Red-O staining of fresh-frozen tissue

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Which tumor is seen in the eyes of AIDS patients and if present in the eyelid appears purple, but will appear bright red if in the conjunctiva?

A

Kaposi Sarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Granulomas associated with systemic sarcoidosis may be detected in which part of the conjunctiva?

A

Conjunctival fornix

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Primary lymphoma of the conjunctiva is most likely to develop in what part?

A

Fornix

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Infection by which organism may produce significant conjunctival scarring?

A

Chlamydia trachomatis (trachoma)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Dry eyes (xeropthalmia) results from a deficiency in the aqueous component of the tear film generated by?

A

Accessory lacrimal glands embedded within the eyelid and fornix

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

A reduction in the number of which cells associated with the conjunctiva leads to a decrease in surface mucin, which is essential for the adherence of the aqueous components of tears to the corneal epithelium?

A

Goblet Cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Submucosal growth of fibrovascular CT that migrates onto the cornea in a winglike fashion is known as?

A

Pterygium

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

A small, yellowish submucosal elevation appearing astride the limbus, but not invading the cornea, is known as what?

A

Pinguecula

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Pterygium and Pinguecula are a result of what?

A

Sun exposure (actinic damage)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Squamous papilloma and conjunctival intraepithelial neoplasia may be associated with the presence of which virus?

A

HPV types 16 and 18

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What is the significance of Mucoepidermoid Carcinomas of the conjunctiva?

A

Follow an aggressive course

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Squamous neoplasms and melanocytic neoplasms and their precursors tend to develop at which part of the conjunctiva?

A

Limbus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Pigmented lesions (nevi) of the conjunctiva most likely represent?

A

Melanomas or melanoma precursors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Conjunctival melanomas typically develop through a phase of intraepithelial growth termed?

A

Primary acquired melanosis with atypia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What is the most common primary intraocular tumor in adults?

A

Uveal melanoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Where s the first evidence of metastasis of uveal melanomas typically seen due to its almost exclusively hematogenous spread?

A

Liver

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What are the 2 oncogenes associated with Uveal Melanomas?

A

GNAQ and GNA11

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Which conditions may give the sclera a “blue” appearance?

A
  • Following episodes of scleritis may become thin, brown color turns blue from the Tyndall effect
  • Thinned in eyes with high intraocular pressure; lesion known as staphyloma
  • Osteogenesis imperfecta
  • Due to heavily pigmented congenital nevus of underlying uvea, condition known as congenital melanosis oculi; accompanied by periocular cutaneous pigmentation is known as nevus of Ota
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

What makes up the major refractive surface of the eye?

A

Cornea and overlying tear film - not the lens

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What is Myopia and why does it develop?

A
  • Short-sightedness – can see near, trouble seeing far
  • Images falls in front of the retina
  • Eye is too long for its refractive power
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What is Hyperopia and why does it develop?

A
  • Far-sightedness – can see far, trouble seeing near
  • Image falls behind the retina
  • Eye that is too short for its refractive power
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Which stain is used to highlight the basement membrane of the cornea?

A

PAS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Which features of the cornea contribute to high rates of success with corneal transplantation?

A

Lacks blood vessesl and lymphatics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Risk of corneal graft rejection increases with what?

What type of graft rejection is most common?

A
  • Increases w/ stromal vascularization, inflammation and invasion
  • Non-immunologic graft rejection = more common
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Corneal vascularization may accompany what pathologies and how can it be treated?

A
  • Corneal edema, inflammation, and scarring
  • VEGF antagonists
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

The corneal endothelium is derived from which primitive cell lineage?

What does it rest on?

A
  • Neural crest cells
  • Corneal endothelium rests on its basement membrane, Descemet mebrane
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

What is the site of copper deposition in the Kayser-Fleischer ring of Wilson disease?

A

Descemet membrane (corneal basement membrane)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Infection with which bacteria may cause corneal ulceration (keratitis)?

A
  • Staphylococcus aureus
  • Streptococcus pneumoniae
  • Pseudomonas aeruginosa
  • Enterobacteriacea
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Which viruses and protozoa can cause corneal ulceration (keratitis)?

A
  • Herpes simplex and herpes zoster
  • Acanthamoeba
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

Chronic herpes simplex keratitis is associated with what morphological finding in the cornea?

A
  • Granulomatous reaction involving the Descemet membrane
  • Infected cells may coalesce to form multinucleated giant cells
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

In keratitis, dissolution of the corneal stroma may be accelerated how?

A

Activation of collagenases within corneal epithelium and stromal fibroblasts (aka keratocytes)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

What is the pattern of injury of corneal degenerations and are the familial?

A
  • Can be unilateral and bilateral
  • Typically nonfamilial
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

What is the pattern of injury of corneal dystrophies and are they familial?

A
  • Typically bilateral
  • Hereditary
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

What occurs in Calcific band keratopathy?

May complicate what condition?

A
  • Deposition of calcium in the Bowman layer = Corneal degeneration
  • May complicate chronic uveitis, especially in chronic juveline rheumatoid arthritis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

Actinic band keratopathy develops as a result of what?

What is seen in this condition?

A
  • People exposed chronically to high levels of UV light
  • Horizontal band of solar elastosis in superficial layers of corneal collagen —> corneal degradation
58
Q

What is Keratoconus and why is it unique?

What does it result in?

A
  • Progressive thinning and ectasia of the cornea w/o evidence of inflammation or vascularization
  • Results in a cornea that has a conical rather than spherical shape –> irregular astigmatism
  • Unique because unlike other degenerations is typically bilateral
59
Q

What conditions is the development of Keratoconus associated with?

A
  • Marfan syndrome and Down syndrome
  • May develop from genetic predisposition superimposed by an enviornmental insult, such as eye rubbing in response to atopic conditions
60
Q

Thinning of the cornea with breaks in the Bowman layer are the histologic hallmarks of what condition?

A

Keratoconus

61
Q

Which 2 conditions are one of the principle indications for corneal transplantation in the US?

A
  • Fuchs endothelial dystrophy
  • Pseudophakic bullous keratopathy
62
Q

What are the 2 major clinical manifestations of Fuchs endothelial dystrophy?

A

1) Stromal edema
2) Bullous keratopathy

63
Q

Fibrous CT deposition between the eptithelium and Bowman layer either by ingrowth from the limbus or perhaps through fibrous metaplasia of the corneal epithelium is known as?

A

Degenerative pannus

64
Q

Thickening of the stroma with edema giving a ground-glass appearance clinically, with resultant blurred vision is characteristic of the late stages of which eye pathology?

A

Fuchs endothelial dystrophy

65
Q

Mutations in which gene encoding an extracellula matrix protein may lead to improper folding of this protein and lead to depositions in the cornea

A

TGFB1 encoding keratoepithelin

66
Q

When the number of endothelial cells decrease following cataract surgery, this condition is known as?

A

Pseudophakic bullous keratopathy

67
Q

Lenticular opacities that may be congenital or acquired describes?

A

Cataract

68
Q

What are the risk factors for cataracts?

A
  • Diabetes
  • Galactosemia
  • Wilson disease
  • Atopic dermatitis
  • Drugs (especially corticosteroids)
  • Radiation or trauma
69
Q

What is nuclear sclerosis?

A

Age-related cataract resulting from opacification of the lens nucleus

70
Q

Migration of the lens epithelium posterior to the lens equator may result in _________ secondary to enlargement of abnormally positioned lens epithelium.

A

Posterior subscapular cataract

71
Q

What is hypermature or morgagnian cataract?

A

Lens cortex may liquefy almost entirely

72
Q

What is phacolysis and how may it contribute to development of glaucoma?

A
  • High MW proteins from liquefied lens cortex (morgagnian cataract) that leak through lens capsule, potentially clogging the trabecular meshwork and increasing intraocular pressure = phacolytic glaucoma
  • Example of secondary open-angle glaucoma
73
Q

In which type of glaucoma does the peripheral zone of the iris adhere to the trabecular meshwork and physically impede the egress of aqueous humor from the eye?

A

Angle-closure glaucoma

74
Q

Mutations in what genes have been associated with the development of open-angle glaucoma?

Which population is each gene associated with?

A
  • MYOC associated w/ juvenile and adult primary open-angle glaucoma
  • OPTN associated w/ some cases of adult open-angle glaucoma
75
Q

What is the most common form of secondary open-angle glaucoma and is associated with polymorphisms in what gene?

A
  • Pseudoexfoliation glaucoma = deposition of fibrillary material throughout anterior segment
  • Single nucleotide polymorphism in the lysl oxidase like 1 (LOX1) gene
76
Q

What is ghost cell glaucoma?

A

Senescent red cells after trauma clogging up the trabecular meshwork in the presence of an open angle

77
Q

What is episcleral venous pressure and what may it lead to?

A
  • Elevations in the pressure on the surface of the eye in the presence of an open angle
  • Contributes to secondary open-angle glaucoma
78
Q

What are some of the contributing factors of secondary angle-closure glaucoma?

A
  • Chronic retinal ischemia upregulating VEGF –> thin, fibrovascular membranes over surface of eye
  • Contraction of myofibroblasts in these membranes –> occlusion of trabecular meshwork = neovascular glaucoma
  • Retinoblastomas may also induce iris neovascularization and glaucoma
79
Q

Prolonged use of which drug is a risk factor for glaucoma?

A

Corticosteroids

80
Q

Primary angle-closure glaucoma typically develops in eyes with shallow anterior chambers, and is often found in individuals with _______.

A

Hyperopia

81
Q

Endophthalmitis is inflammation where?

A

Within the interior of the eye and involving the vitreous humor

82
Q

Inflammation within the eye that involves the retina, choroid, and sclera and extends into the orbit is known as?

A

Panophthalmitis

83
Q

Adhesions between the iris and the trabecular meshwork of the cornea are called?

Can lead to?

A
  • Anterior synechiae
  • Elevation in intraocular pressure –> optic nerve damage
84
Q

Which organism may cause Uveitis?

A

Pneumocystis carnii

85
Q

Granulomatous uveitis is a common complication of __________.

A

Sarcoidosis

86
Q

When sarcoidosis produces granulomas in the retina giving rise to perivascular inflammation, it produces what well-known opthalmoscopic sign?

A

Candle-wax drippings

87
Q

Patients with AIDS are at risk of developing eye infections by which organisms?

A
  • CMV retinitis and uveal infection
  • Pneumocystitis or mycobacterial choroiditis
88
Q

Which condition is characterized by bilateral granulomatous inflammation typically affecting all components of the uvea: a panuveitis?

How is this type of uveitis classified?

A

Sympathetic opthalmia = non-infectious uveitis

89
Q

How may a penetrating injury to the eye lead to Sympathetic opthalmia and potentially blindness?

A
  • Retinal antigens sequestered from immune system may gain access to lymphatics in the conjunctiva
  • Sets up delayed hypersensitivity reaction, affecting not only the injured eye, but also the contralateral eye
  • May develop anywhere from 2 weeks to many years following an injury
90
Q

What is the characteristic morphology and cell types found in Sympathetic Opthalmia?

A
  • Diffuse granulomatous inflammation of the uvea (choroid, ciliary body, and iris)
  • Eosinophils may be present
91
Q

Which unusual feature is commonly seen with Uveal Melanomas and what is this process called?

A
  • Looping slit-like spaces lined by laminin that surround packets of tumor cells
  • These spaces are not BV’s, but connect to BV’s and serve as extravascular conduits for the transport of blood and plasma
  • Unusual growth pattern promoted by tumor cells and known as vasculogenic mimicry
92
Q

Uveal melanomas containing which cell type and which size characteristic have a worse prognosis?

A
  • Those containing epitheliod cells rather than exclusively spindle cells
  • The lateral extent of the tumor rather than depth is related to a worse outcome
93
Q

What is the prognosis for Uveal melanomas?

A
  • Usually are hidden from sight and have likely been present for some times, so the prognosis is worse than cutaneous melanomas
  • 80% 5 year survival rate, 40% at 10 years
94
Q

Which layer of the retina due exudates tend to accumulate in?

A

Outerplexiform layer, especially in the macula

95
Q

Retinal detachment is defined as the detachment of the retina from what?

A

Retina from the retinal pigment epithelium (RPE)

96
Q

Rhegmatogenous retinal detachment is associated with what kind of defect?

A

Full-thickness

97
Q

Non-rhegmatogenous retinal detachment are associated with conditions?

A
  • Choroidal tumors
  • Malignant HTN
98
Q

Malignant HTN may lead to focal infarcts of the choroid which can be seen clinically as?

A

Elschnig spots

99
Q

The observation of “cotton-wool spots” during an opthalmoscopic observation suggests?

A
  • INFARCTION of the nerve fiber layerof theretina
  • Presence of cytoid bodies (accumulaton of mitochondria) populating the nerve fiber layer
100
Q

Retinal nerve fiber layer infarcts may develop in association with what other disease?

A

AIDS

101
Q

Thickening of which structure is a reliable histologic marker of diabtes mellitus in the eye?

A

Basement membrane of the epithelium of the pars plicata of the ciliary body

102
Q

What are the characteristic changes that occutr with non-proliferative diabetic retinopathy?

A
  • Basement membrane of retinal blood vessels thickens
  • Number of pericytes relative to endothelial cells diminishes
  • Microaneurysms
  • Macular edema (common cause of visual loss in these pts)
  • Accumulation of exudates in outer plexiform layer
103
Q

What are the characteristic of proliferative diabetic retinopathy and potential consequences?

A
  • Appearance of new vessels on surface of optic head or retina (neovascularization)
  • Vitreous humor may separate from internal limiting membrane (posterior vitrous detachment) causing massive hemorrhage of disrupter neovascular membrane
  • Scarring associated with the organization of the retinal neovascular membrane may wrinkle the retina
  • Neovascular membrane may develop on iris surface and contraction may lead to neovascular glaucoma
104
Q

Nonperfusion of the retina due to microcirculatory changes is associated with the upregulation of?

A

VEGF and intra-retinal angiogenesis

105
Q

What is Retinopathy of Prematurity (Retrolental Fibroplasia)?

A
  • At term, temporal (lateral) aspect of retinal periphery is incompletely vascularized; Medial aspect is vascularized
  • Premature or low-birth-weightinfants Tx w/O2, immature retinal vessesl in the temporal retinal peripheryconstrict–>ischemia of distal retinal tissue–> up-regulation of VEGF
  • Retinal angiogenesis; contraction of resulting peripheral neovascular membrane may “drag” the temporal aspect of retina toward the peripheral zone, displacing the macula laterally
  • Retina may detach all together
106
Q

The non-proliferative form of sickle retinopathy occurs in individuals with what hemoglobin genotypes?

A

SS or SC genotypes

107
Q

How may retinal vasculitis and irradiation used to treat intraocular tumors lead to retinal detachment?

A

Damage to retinal vessels –> Retinal ischemia –> Retinal angiogenesis –> Complications leading to hemorrhage and traction, and potentially detachement

108
Q

What is the final common pathway in both the nonproliferative and proliferative forms of Sickle Retinopathy?

A

Vascular occlusion

109
Q

What are Hollenhorst plaques?

A

Fragments of atherosclerotic plaques lodged in retinal circulation

110
Q

Total occlusion of a branch of the retinal artery produces a segmental infarct of the retina, what will be seen when looking at the fundus with an opthalmoscope?

A

Fundus appears white instead of red/orange

111
Q

Total occlusion of the central retinal artery produces a _______ infarct of the retina

A

Diffuse

112
Q

What characteristic look will the retina and fovea have upon examination following a diffuse infarct of the retina caused by total occlusion of the central retinal artery?

A
  • Retina will appears white/opaque
  • Fovea will look even more red in contrast to surrounding opacity – cherry red spot
113
Q

What type of Age-Related Macular Degeneration (AMD) is characterized by deposits in the Bruch membrane (drusen) and geographic atrophy of the RPE?

A

Atrophic or “dry” AMD

114
Q

What occurs in Neovascular or “wet” AMD?

A
  • Characterized by choroidal neovascularization
  • Vessles that originate from choriocapillaries and penetrate THROUGH the Bruch membrane beneath the RPE
  • May even go through the RPE to become situated directly beneath the retina
115
Q

What is the current treatment for neovascular AMD?

A

Injection of VEGF antagonists into the vitreous of the affected eye

116
Q

The vessels of the neovascular membrane associated with “wet” AMD may occasionally leak and create what problems?

A
  • May be a source of hemorrhage –> diffuse vitreous hemorrhage
  • Localized suffusion of blood that may be mistaken for an intraocular neoplasm
117
Q

Which gene is associated with the pathogenesis of AMD?

Suggesting that AMD may stem from excess activity of what?

A
  • CFH (complement factor H)
  • Excess activity of complement
118
Q

What risk factor associated with the risk-associated genotype for AMD (CFH) have a 144-fold increased risk for developing the neovascular form of AMD?

A

Those who have smoked at least 10-pack years

119
Q

What is Retinitis pigmentosa and how is it acquired?

A
  • Hereditary retinal degeneration
  • Can be autosomal recessive, X-linked, or autosomal dominant

*AD forms appear later in life

120
Q

Retinitis pigmentosa may be a part of which syndromes?

A
  • Bardet-Biedl syndrome
  • Usher syndrome
  • Refsum disease
121
Q

What occurs to the rods and cones in Retinitis Pigmentosa?

A

Are both lost to apoptosis w/ rods leading to night blindness and cones leading to center field blindess

122
Q

Retinal atrophy associated with Retinitis Pigmentosa is accompanied by what and is seen how clinically?

A
  • Constriction of retinal vessels and optic nerve head atrophy (“waxy pallor” of the optic disc)
  • Accumulation of retinal pigment around blood vessels
123
Q

What pathogens associated with IV drug abuse and AIDS may disseminate to the retina resulting in retinal abscesses and visual morbidity?

A
  • IV drug abuse —> Candida
  • AIDS —> CMV
124
Q

What’s the difference between familial and sporadic retinoblastoma?

A
  • Familial: germline mutation in one RB allele
  • Sporadic: two separate sporadic mutations occur in RB allele
125
Q

Which chromosome is the RB gene found on?

A

13

126
Q

Retinoblastomas arising in the context of a germline mutation are often ________.

A

Bilateral

127
Q

Retinoblastoma tends to metastasize to what sites?

A
  • Brain
  • Bone marrow
  • Skull, distal bones, and spinal cord
128
Q

What is the most common route of escape for metastasis by Retinoblastoma and how does this affect prognosis?

A
  • Via optic nerve
  • Poor prognosis
129
Q

Appearance of retinoblastoma in one eye and retinocytoma in the other eye is characteristic of _____ retinblastoma

A

Heritable

130
Q

When cells of a retinoblastoma shed into the anterior chamber, aggregate and form nodules on the iris or settle inferiorly, this is known as?

A

Pseudohypopyon

131
Q

What are the characteristic histologic features of a retinoblastoma?

A
  • Round, oval, or spindle-shaped hyperchromatic nuclei w/ scant cytoplasm

- Flexner-Wintersteiner rosettes

132
Q

What is a Primary Retinal Lymphoma and which layers are involved?

A

- Aggressive tumor that involves the two retinal layers derived from the brain, neurosensory retina, and the RPE

  • Occur in older patients
  • Most are diffuse large B cell lymphomas commonly spreading to brain via optic nerve
133
Q

What is Anterior Ischemic Optic Neuropathy (AION)?

A
  • Spectrum of injuries to the optic nerve varying from ischemia to infarction
  • May produce transient episodes of ischemia with transient vision loss or with total interruption of blood flow can give rise to an optic nerve infarction w/ complete loss of vision

*Very similar to a stroke in the brain!

134
Q

Is acute papilledema from increased ICP associated w/ visual loss?

A

No

135
Q

What are the morphological differences seen in the optic nerve with a AION and papilledema?

A
  • AION: the optic nerve is swollen and pale
  • Papilledema: the optic nerve is swollen and hyperemic (increased blood)
136
Q

Morphological characteristics of glaucomatous optic nerve damage?

A
  • Diffuse loss of ganglion cells and thinning of the retinal nerve fiber
  • In advanced cases the optic nerve is both cupped and atrophic (combo unique to glaucoma)
137
Q

Leber hereditary optic neuropathy (LHON) results from the inheritance of what mutations?

A

Mitochondrial gene mutations = Materal inheritance

138
Q

What is unique about the inheritance of Leber Hereditary Optic Neuropathy (LHON)?

What is its typical onset and initial symptoms?

A
  • Maternal inheritance patter due to mitochondrial gene mutations, BUT males are affect far more commonly (9:1)
  • Age of onset: 10-30 yo
  • Begins with clouding of vision that may progress to total vision loss
139
Q

What is one of the most important causes of Optic Neuritis?

A

Often one of the first manifestations of MS

140
Q

Which changes are often seen in the end-stage eye: Phthisis Bulbi?

A
  • Exudate or blood btw ciliary body and sclera and the choroid and sclera (ciliochoroidal effusion)
  • Membrane extending across the eye from one aspect of ciliary body to another
  • Chronic retinal detachment
  • Optic nerve atrophy
  • Presence of intraocular bone (osseous metaplasia of the RPE)
  • Thickened sclera

*Eye may look square rather than round