Ophthalmology Flashcards by Colton Rathbun

Cornea

covering over lens to focus light

How well did you know this?

Not at all

Perfectly

Lens

Focuses light in the macular

How well did you know this?

Not at all

Perfectly

Vitreous

gel-like substance in center of eye

How well did you know this?

Not at all

Perfectly

Retina

Contains photoreceptors to convert light into chemical messages

How well did you know this?

Not at all

Perfectly

Optic nerve

sends messages to brain

How well did you know this?

Not at all

Perfectly

Macula

Area surrounding fovea

How well did you know this?

Not at all

Perfectly

Fovea

Area where visual acuity is the greatest

How well did you know this?

Not at all

Perfectly

Rods

Most dense in outer edges
Assist with low light and peripheral vision

How well did you know this?

Not at all

Perfectly

Cones

Most dense in macula
Help with central and color vision

How well did you know this?

Not at all

Perfectly

Photoreceptors

nerve cells within the retina that allow light to be converted into biochemical processes

How well did you know this?

Not at all

Perfectly

BEST Disease

Non-syndromic
Juvenile form of macular dystrophy
Trouble with central vision and distortion of objects
Most don’t develop night blindness or loss of peripheral vision
BEST1 gene
AD

How well did you know this?

Not at all

Perfectly

Stargardt Disease

Non-syndromic
Most common inherited macular dystrophy (1:10,000)
Decreased VA, loss of central and decreased color vision due to cone damage
Peripheral vision usually okay

How well did you know this?

Not at all

Perfectly

Stargardt Diseasse characteristics

yellow flecks (drusen) seen around macula and in periphery
Has beaten metal appearance

How well did you know this?

Not at all

Perfectly

Choroideremia

Non-syndromic
Being in teens
First sign is night blindness, then loss of peripheral vision and poor depth perception
Central vision preserved until later in life

How well did you know this?

Not at all

Perfectly

Choroideremia genetics

X-linked
CHM gene

How well did you know this?

Not at all

Perfectly

Retinitis Pigmentosa

First sign is night blindness, then loss of peripheral vision and poor depth perception
Advanced RP involves cone death leading to decreased color vision and central acuity

How well did you know this?

Not at all

Perfectly

Isolated RP inheritance

AD, AR, or X-linked

How well did you know this?

Not at all

Perfectly

What type of conditions often have RP

Mitochondrial

How well did you know this?

Not at all

Perfectly

Most common gene for AD RP

RHO
(also associated with sectoral RP)

How well did you know this?

Not at all

Perfectly

Most common gene for AR RP

USH2A

How well did you know this?

Not at all

Perfectly

Genes associated with X-linked RP

RPGR - 70-90% (has ORF15 hotspot)
RP2 - 10-20%
OFD1

How well did you know this?

Not at all

Perfectly

Leber Congenital Amaurosis

Non-syndromic
Severe RP
Dystrophy of retina, nystagmus (repetitive uncontrolled movements), photobia (sensitivity to light), high hyperopia (farsightedness, keratoconus (cornea gets thinner)
Franceschetti’s oculo-digital sign
Usually AR
May have DD

How well did you know this?

Not at all

Perfectly

Isolated Aniridia

Complete or partial iris hypoplasia with associated foveal hypoplasia
Decreased visual acuity and nystagmus
Can have cataract, glaucoma and corneal opacities, and vascularization

How well did you know this?

Not at all

Perfectly

Isolated Aniridia genetics

AD
PAX6

How well did you know this?

Not at all

Perfectly

Anophthalmia

Absence of one or both eyes

Micropthalmia

one or both eyes are small

Coloboma

non-closure of the optic fissure

What percent of anophthalmia, microphthalmia, and coloboma are caused by chromosome abnormalities

25-30%

Congenital and juvenile cataract

clouding of lens All forms of inheritance

Primary Congenital Glaucoma

Increased intraocular pressure, enlargement of globe, edema, and opacification of the cornea Can have photophobia, belpharospasm (twitching of eye), and excessive tearing Symptoms usually in 1st year of life

Isolated Primary Congenital Glaucoma genes

AR - CYP1B1 and LTBP2 AD - TEK

Primary Open Angle Glaucoma

Increased intraocular pressure causing vision loss due to optic nerve damage 3-35 years for AOA AD

Age Related Macular Degeneration (AMD)

Leading cause of vision loss in individuals 65 and over Affects central vision

What type of AMD has possible treatment

wet

Risk of AMD with older diagnosed sibling

2-10X

Risk of AMD with affected 1st degree relative

What is the most significant environmental factor of AMD

Smoking

How many types of Usher Syndrome are there and what is the inheritance

3 AR

Usher Syndrome Type 1

SNHL, vestibular areflexia, adolescent onset RP

Usher Syndrome Type 2

Type 1 without vestibular involvement

Usher syndrome Type 3

Postlingual SNHL, late onset RP, variable vestibular involvement

Bardet-Biedl Syndrome

Cone-rod dystrophy RP Truncal obesity Postaxial polydactyly Renal disease GI malformation ID DD Hypogonadism

Bardet-Biedl Syndrome Inheritance

Oculocutaneous Albinism

Hypopigmentation of skin and hair Nystagmus, reduced iris pigment, strabismus, foveal hypoplasia with decreased visual acuity

How many types of Oculocutaneous Albinism

5 OCA1-4 and Hermansky-Pudlak

Oculocutaneous Albinism inheritance

Ocular Albinism

Nystagmus, reduced iris pigment, strabismus, foveal hypoplasia with decreased visual acuity

Ocular Albinism genetics

X-linked GPR143 gene

Leber Hereditary Optic Neuropathy

Subacute bilateral vision loss (begins with blurry central vision) Mild neuro symptoms

Leber Hereditary Optic Neuropathy genetics

Mitochondrial with incomplete penetrance

Who have a 4-5X chance of developing Leber Hereditary Optic Neuropathy

Males

Optic Atrophy Type 1 (OPA1)

Progressive bilateral vision loss with decreased visual acuity, visual field defects, and color deficits SNHL

OPA1 geneteics

AD OPA1 and OPA3

WAGR Syndrome

Wilms tumor Aniridia Genitourinary anomalies Retardation Obesity Neuro

WAGR Genetics

AD PAX6 and WT1 genes

Lowe Syndrome

Congenital cataracts Hypotonia Delayed motor milestones Absent deep tendon reflexes ID Proximal renal tubular dysfunction SS Dental cysts

Lowe Syndrome genetics

X-linked OCRL gene

Retinoblastoma

Malignant tumor in retina Unifocal or multifocal Other tumors: pinealomas, sarcomas, melanoma Cat's eye reflex

Retinoblastoma genetics

AD RB1 gene or deletion/rearrangements of 13q14

Corneal clouding associated with

MPS disorders

Heterochromia associated with

Waardenburg Syndrome

Cherry red spot associated with

Tay-Sachs, Sandhoff, and Neimann-Pick Disease

Retinal detachments associated with

Stickler Syndrome

Extopia lentis associated with

Marfan Syndrome, Homocystinuria

CHRPE associated with

FAP

Kayser-Fleischer rings associated with

Wilson Disease

Stellate irides associated with

Williams syndrome

Retinal lacunae associated with

Aicardi Syndrome

Coloboma associated with

CHARGE

WES identifies a molecular etiology for what percentage of retinal patients

60%

What is sometimes the first symptom of a syndrome

congenital cataracts

Percent of patients that have unilateral retinoblastoma; percent with bilateral

60% 40%

Individuals with what kind of rentinoblastoma are more likely to have germline variants

bilateral and/or multifocal

For individuals with bilateral, unilateral familial, or unilateral multifocal retinoblastoma, should do what testing

RB1 seq and del/dup

What is the eye a good target for gene therapy

Easier target Many hereditary eye disorders only affect vision Limited opportunity for the replacement gene to leave the eye

Gene therapy for RPE65 variants

Luxturna

Stem cell therapy

allows treatment for individuals with more advanced disease Can be created from the patient's own blood cells May be able to be used with gene therapy May have broad use in treating many forms of blindness

Ophthalmology Flashcards

(77 cards)