19 - posterior segment

What are the five primary categories of post seg disease in a kid?

1. leukocoria

2. macular problems

3. optic nerve problems

4. tumors

5. retinal hemes

What are the causes of leukocoria in a kid?

1. media opacity → cataract, PHPV

2. inflammation/exudation → Coats, toxo, posterior uveitis

3. retinal detachment

4. tumor → retinoblastoma

What is persistent hyperplastic primary vitreous (PHPV)?

incomplete development of the vitreous

Is persistent hyperplastic primary vitreous (PHPV) usually uni or bilateral?

unilateral

What can persistent hyperplastic primary vitreous (PHPV) present with?

with leukocoria or strabismus

What other presentations/ocular problems are associated with persistent hyperplastic primary vitreous (PHPV)?

1. microphthalmia

2. microcornea

3. whitish vascularized membranes behind lens

4. vitreous membranes

5. retinal folds

What is the treatment for persistent hyperplastic primary vitreous (PHPV)?

refer for lensectomy and vitrectomy

What is the cause of Coats Disease?

idiopathic, non-hereditary

Who gets Coats Disease?

75% male

Is Coat's disease unilateral or bilateral?

unilateral

What is presentation of Coats Disease?

retinal telangiectasia with intraretinal and subretinal exudation

What are the complications of Coats Disease?

1. exudative retinal detachment

2. neovascular glaucoma

What is the treatment for Coats Disease?

refer for laser treatment for telangiectasia and cryotherapy for RD

what is the inheritance pattern for Stickler Syndrome?

AD

what are the systemic sign/symptoms of Stickler Syndrome?

1. facial abnormalities

2. skeletal abnormalities

3. Robin sequence

4. deafness

5. mitral valve prolapse

what are the facial abnormalities for Stickler Syndrome?

1. flat nasal bridge

2. maxillary hypoplasia

what are the skeletal abnormalities for Stickler Syndrome?

1. arachnodactyly

2. arthropathy (joint disease)

3. joint hyperextensibility

what is Robin sequence?

1. micrognathia (small jaw)

2. small tongue

3. cleft soft palate

4. high-arched palate

what are the ocular signs of Stickler Syndrome?

1. abnormal vitreous

2. high myopia

what is the most common inherited cause of RD?

stickler syndrome → occurs in 65% of pts

What are the risk factors for ROP (retinopathy of prematurity)?

1. birth

Why is supplemental oxygen therapy a risk factor for ROP?

oxygen causes peripheral vessels to not develop →

when taken off, no perfusion to peripheral retina → neovascularization

What are the signs of ROP?

1. avascular peripheral retina

2. dilated, tortuous vessels (Plus disease)

3. poor dilation

4. engorged iris vessels

What are the complications of ROP?

1. neovasc

2. heme

3. RD

4. leukocoria

Is ROP usually uni or bilateral?

bilateral

How do you describe the extent of ROP?

by zones and clock hours:

Zone 1: radius from optic nerve to twice the distance to macula

Zone 2: radius from ON to nasal ora serrata

Zone 3: residual temporal crescent left after zone 2

What are the stages of ROP?

Stage 1: flat tortuous demarcation line between vascular and avascular retina

Stage 2: elevated ridge line

Stage 3: elevated ridge line with fibrovascular proliferation

Stage 4A: Mac on retinal detachment

Stage 4B: Mac off retinal detachment

stage 5: total retinal detachment

What is Plus disease and when does it occur?

dilated, tortuous vessels, plus retinal hemes

can occur at any stage of ROP

What is the exam schedule for a baby with ROP who was less than 2lb 12oz?

1. every 2 weeks until 14 weeks old

2. every month until 6 months

3. every 6 months

What is the treatment for the different stages of ROP?

Stage 1 and 2: no treatment, 80-90% regress w/o intervention

Stage 3: laser photocoagulation, anti-VEGF

Stage 4 + 5: surgical repair of RD

What is the visual sequelae of ROP after treatment?

1. high myopia

2. decreased peripheral vision

3. decreased central VA (macular dragging)

4. strabismus and amblyopia

5. cataracts

What is the concern with treating ROP with anti-VEGF?

some systemic absorption → infants treated with anti-VEGF have an increased risk of motor impairment and may cause pulmonary hypertension

What are the 3 main macular problems seen in kids?

1. X-linked retinoschisis

2. Best's Vitelliform Dystrophy

3. Stargardt's Disease

What is the presentation of X-linked retinoschisis?

1. macular spokewheel pattern

2. may have peripheral schisis or RD

3. variable VA (20/60-20/200)

what are the results of the ERG for X-linked retinoschisis?

1. reduced B-wave (polarization)

2. normal A-wave (hyperpolarization)

When does X-linked retinoschisis typically present?

5-10 years old

What is the inheritance pattern of Best's Vitelliform Dystrophy?

AD

What are the stages of Best's Vitelliform Dystrophy?

0: subnormal EOG but no retinal signs

1: pigment mottling

2: sunny side egg macula

3: lesion starts to resorb

4: scrambled egg macula

5: atrophy

What is the onset of Best's Vitelliform Dystrophy?

onset before driving age

What are the visual signs of Best's Vitelliform Dystrophy?

1. VA 20/40-20/200

2. tritan defect

what are the results for ERG and EOG for Best's Vitelliform Dystrophy?

normal ERG

reduced EOG

What is the treatment for Best's Vitelliform Dystrophy?

1. genetic counseling

2. vision rehab

What is the onset of Stargardt's disease?

1st or 2nd decade

What are the signs of Stargardt's disease?

1. progressive loss of vision to 20/200

2. non-specific mottling of fovea with progression to beaten bronze appearance

3. can be surrounding by yellow/white flecks

4. eventual geographic atrophy

what is the appearance on FANG for Stargardt's disease?

dark choroid

what are the inheritance patterns for cone dystrophy?

1. AD

2. XLR

3. AR

what is the onset of cone dystrophy?

teens to 60s

what are the sign/symptoms of cone dystrophy?

1. gradual of VA to 20/200

3. abnormal dark adaptation

4. hemeralopia → reduced vision in bright light

what are the results of ERG for cone dystrophy?

normal photopic ERG

normal scotopic ERG until late stage

what is the FANG appearance for cone dystrophy?

hyperfluorescent window defect surrounding hypofluorescent center on FANG - bull's eye maculopathy

what is the most common hereditary fundus condition?

retinitis pigmentosa

what are the inheritance patterns of retinitis pigmentosa?

1. AD

2. XLR

3. AR

when is the onset of retinitis pigmentosa?

10-30s

what are the signs/symptoms of retinitis pigmentosa?

1. reduced peripheral vision

2. abnormal dark adaptation

3. nyctalopia

what are the results of ERG and EOG for retinitis pigmentosa?

normal photopic ERG

abnormal scotopic ERG

reduced EOG

What are common optic nerve problems in kids?

1. optic nerve pit

2. optic nerve hypoplasia

3. optic atrophy

4. optic nerve coloboma

What is the presentation of optic pit?

1. disc often larger than normal

2. round or oval pit in IT quadrant of disc

3. visual field defect that can mimic glaucoma

What is the complication of an optic pit?

serous retinal detachment

*have pts come in after a fall/trauma

What is optic nerve hypoplasia associated with?

1. septa-optic dysplasia (deMorsier syndrome)

2. meds or alcohol during gestation

What are the exam signs of optic nerve hypoplasia?

1. uni or bilateral

2. normal VA to NLP

3. may have VF loss

what do you do if optic nerve hypoplasia is bilateral?

send to imaging → could be systemic

What is the presentation of optic nerve hypoplasia?

1. small optic nerve surrounded by double ring sign → inner ring border is CR atrophy, outer ring is edge of what would have been normal disc margin

2. disc-macula:disc diameter ratio >3:1

What type of optic atrophy is it if the patient has B-Y color vision defect?

AD junvenile optic atrophy

disregard

disregard

What type of optic atrophy is it if the patient has ONH atrophy temporally only?

AD Juvenile OA

What type of OA could it be if the patient has a centrocecal VF defect?

AD Juvenile OA

What are two common tumors seen in kids?

1. retinoblastoma

2. choroidal hemangioma

What is the most common intraocular malignancy in children?

retinoblastoma

What is the average age of diagnosis of retinoblastoma? When are pretty much all diagnosed by?

18 months

almost all dx before 4 years old

What does a retinoblastoma look like on B-scan? Why?

highly reflective due to calcium content

What is the survival rate of a retinoblastoma?

>90%

What may a retinoblastoma present with?

1. white pupil

2. strabismus

Is retinoblastoma unilateral or bilateral?

majority unilateral (30% bilateral)

What are the two growth patterns of a retinoblastoma?

endophytic: seeding of tumor cell throughout eye and into vitreous

exophytic: grows into subretinal space

What can a retinoblastoma do?

1. invade the optic nerve

2. metastasize

What are the treatments for retinoblastoma?

1. photocoagulation

2. cryotherapy

3. chemo

4. radiation

5. enucleation

What is the appearance of a choroidal hemangioma?

reddish orange-brown tumor in choroid

Is a choroidal hemangioma benign or cancerous?

benign

What is the treatment for choroidal hemangioma?

observation

laser if affecting vision or causing RD

What are the causes of retinal hemorrhages in kids?

1. abuse

2. anemia

3. diabetic retinopathy

4. leukemia

What characteristics of retinal hemorrhage is consider pathogenmonic for abuse?

1. patient younger than 2 years old

2. bilateral

3. hemes in multiple stages of healing

When do retinal hemes caused by birth resolve?

in one month

What is seen in retinal hemes caused by anemia?

1. low RBC

2. lethargy and pallor

When is diabetic retinopathy usually seen in a kid?

after 10 years old

When should a child with diabetes have yearly exams?

after 10 years old

How does DR in children differ from adults?

more severe and progresses faster in children

What is the presentation of retinal hemes in a patient with leukemia ?

1. intraretinal heme

2. Roth's spot

3. CWS

4. tortuous, dilated vessels

What accounts for 90% of all childhood leukemia?

acute lymphocytic leukemia (ALL)

What are the signs/symptoms of acute lymphocytic leukemia (ALL)?

1. petechial hemes

2. pallor

3. fever

4. bruising

5. infection

6. joint pain

What is the sequelae of acute lymphocytic leukemia (ALL)?

rapidly fatal if untreated

but

responds well to chemotherapy or bone marrow transplant