[06.01a] Ocular Manifestations of Systemic Diseases (Part 1).pdf

Systemic diseases

What type of diseases frequently present with ophthalmologic complications?

Diabetic retinopathy

What ocular condition associated with severe diabetes presents with blurred vision?

Stroke

A patient presenting with a migraine or headache may actually be experiencing what severe cerebrovascular event?

Vision (acuity), external exam, pupils, motility/EOM, anterior segment exam, dilated ophthalmoscopy, and visual fields

What are the components of a comprehensive eye examination?

External exam

Which component of an eye examination involves inspecting the eyes grossly?

Motility / Extraocular muscles (EOM)

Which eye examination component evaluates equal movement of the patient's eyes?

Visual fields / Confrontation testing

Which exam component assesses peripheral visual perception when needed?

Chromosome 21 / Trisomy 21

Down syndrome is characterized by a third copy of which chromosome?

Down facies

What term describes the characteristic facial appearance of Down syndrome, including narrow eyes and flat facies?

Slanted eyes, epicanthal folds, and entropion

What are three prominent eyelid and ocular surface anomalies seen in Down syndrome?

Entropion

What is the inward inversion of eyelid margins that causes eyelashes to rub against the cornea?

Irritation, tearing, corneal rubbing, and infection

What clinical problems result from entropion in Down syndrome patients?

Early-onset cataracts

What lens opacity disorder develops early (around ages 16–17 or in the 30s–40s) in patients with Down syndrome?

Yellow, white, or brownish

What colors can the lens turn when a cataract forms in Down syndrome?

High myopia

What refractive error occurs when the eyeball elongates into an American football shape instead of a basketball shape?

Dislocated lens

What structural anomaly of the crystalline lens can occur in Down syndrome?

Retinal detachment

What condition occurs when the retina folds upon itself and detaches from its underlying attachments?

Blepharitis

What is the term for inflammation or infection of the lid margins characterized by crusting?

Nasolacrimal duct obstruction

What lacrimal disorder in Down syndrome is contributed to by flat and broad facial features?

Nasolacrimal duct

What anatomical pathway drains tears from the lacrimal lake into the nose?

Connective tissue

Marfan syndrome is a congenital condition primarily affecting which systemic body tissue?

Heart, hyperflexibility, and very long limbs

What are three classic systemic features of Marfan syndrome outside the eye?

High myopia

What refractive disorder in Marfan syndrome is caused by eyeball elongation and predisposes to retinal tears?

Retinal detachment

High myopia in Marfan syndrome easily leads to retinal tearing and perforation, causing what condition?

Superiorly and temporally

In what directions does the lens typically dislocate in Marfan syndrome?

Retina

What is the innermost, light-sensitive lining of the eye that can detach in high myopia?

Neurocutaneous syndromes

What is another name for phakomatoses?

Hamartomatous lesions

Phakomatoses are congenital disorders characterized by what type of lesions in the skin, CNS, and PNS?

Diagnostic criteria

What role do ocular findings play in evaluating patients suspected of having a phakomatosis?

Neurofibromatosis Type 1, Neurofibromatosis Type 2, Tuberous Sclerosis, Von Hippel-Lindau, and Sturge-Weber

What are five major types of phakomatoses?

Von Recklinghausen disease

What is the alternative name for Neurofibromatosis Type 1?

Neurofibromatosis Type 1 (NF-1)

Which condition is the most common phakomatosis?

Chromosome 17q11

On which chromosome and locus is the gene for NF-1 localized?

1 in 4,000

What is the approximate incidence of NF-1 in individuals?

Childhood

At what stage of life does NF-1 typically present?

Café au lait spots, neurofibromas, and eye findings

What are the three main diagnostic features of NF-1?

Plexiform neurofibromas

What pedunculated skin and lid lesions are characteristic of NF-1?

Primary optic nerve glioma

What orbital tumor in NF-1 can cause optic nerve compression and unilateral or bilateral blindness?

Sphenoid wing dysplasia

What congenital absence of the greater wing of the sphenoid bone in NF-1 can cause pulsatile ptosis?

Sphenoorbital encephalocele

What orbital herniation defect can occur secondary to sphenoid bone dysplasia in NF-1?

Classic S-shape lid deformity

What classic lid contour deformity is created by a pedunculated plexiform neurofibroma in the eyelid?

Glaucoma, astigmatism, and mechanical ptosis

What three ocular complications can result from eyelid plexiform neurofibromas pressing on the eye?

Lisch nodules

What are pigmented, pedunculated small clumps or nodules found on the iris in 95% of NF-1 patients?

Lightly pigmented irises

In which iris color type are Lisch nodules most easily visualized?

Congenital ectropion uveae

What uncommon iris anomaly involves the anterior eversion or folding of the iris/uvea and is associated with glaucoma?

Choroidal nevus

What darkly pigmented lesion in the retina/choroid can occur in NF-1 and may be multifocal or bilateral?

Bilateral acoustic neuromas

What primary neurogenic tumor defines Neurofibromatosis Type 2?

Presenile cataracts

What common lens opacity disorder affects young individuals with NF-2?

Cortical opacities / spokes of a wheel

What classic lens appearance is seen in presenile cataracts associated with NF-2?

Combined hamartomas

What intraocular tumor affecting both RPE and retinal cells occurs throughout the fundus in NF-2?

Retinal astrocytomas

What is the key ocular feature of Tuberous Sclerosis?

Mulberry-like lesions

What visual appearance describes the retinal astrocytomas in Tuberous Sclerosis?

50%

What percentage of patients with Tuberous Sclerosis exhibit retinal astrocytomas?

Central macula or optic nerve

Retinal astrocytomas in Tuberous Sclerosis are typically asymptomatic unless they involve which critical structures?

Retinal hemangiomas

What key vascular tumor in the peripheral retina characterizes Von Hippel-Lindau syndrome?

Dilated and tortuous

How do the retinal blood vessels connected to a retinal hemangioma appear in VHL?

50%

What proportion of patients with VHL present with retinal hemangiomas?

Leakage, bleeding, and scarring

What pathological events cause retinal hemangiomas in VHL to become vision-threatening?

Ophthalmologist

Which medical specialist is often the first to diagnose VHL due to detecting a peripheral retinal hemangioma?

Fluorescein angiography

What diagnostic test involves injecting fluorescent dye into an antecubital vein to directly visualize retinal blood vessels through the pupil?

Port wine stain

What facial cutaneous vascular nevus is associated with Sturge-Weber syndrome?

Episcleral hemangiomas

What vascular lesions on the surface of the sclera in SWS lead to increased intraocular pressure?

Glaucoma and buphthalmos

What two ocular complications develop in young pediatric SWS patients due to elevated intraocular pressure expanding unformed sclera/cornea?

Buphthalmos

What term describes the marked enlargement of the globe and cornea in pediatric eyes under high intraocular pressure?

Diffuse choroidal hemangioma

What reddish, widespread vascular lesion of the choroid is characteristic of Sturge-Weber syndrome?

Non-accidental traumatic brain injury / Abusive Head Trauma

What is the medical definition of Shaken Baby Syndrome?

Coup and contrecoup injury

What kinetic mechanism occurs when a baby is violently shaken due to inadequate neck support?

Retinal hemorrhages

What is the ocular hallmark of Shaken Baby Syndrome?

Multiple stages of hemorrhages (fresh and healing)

What fundoscopic finding regarding hemorrhage age indicates repeated episodes of shaking abuse?

Optic nerve hemorrhages

In addition to retinal hemorrhages, what other nerve hemorrhage is seen in Shaken Baby Syndrome?

Absence of outward signs of trauma

Why is Shaken Baby Syndrome difficult to diagnose externally?

Child services and social workers

Which protective personnel must clinicians consult when suspecting Shaken Baby Syndrome?

Arteriolar sclerosis

What is the primary underlying pathophysiology and key vascular finding in hypertensive eye disease?

Attenuation of vessels

What is the earliest direct fundoscopic sign of hypertensive retinopathy?

Veno-occlusive diseases

Hypertensive retinopathy acts as a major predisposing factor for what category of retinal vascular blockages?

AV nicking

What term describes the V-shaped compression of a venule where it is crossed by an arteriole sharing the same adventitial sheath?

Cotton wool spots

What are the fluffy white retinal spots representing localized nerve fiber layer ischemia?

Hypertensive crisis and preeclampsia

In what two acute clinical conditions should clinicians actively look for acute hypertensive retinopathy signs?

Optic nerve swelling / Papilledema

What optic disc sign indicates advanced acute/malignant hypertension?

Grade 1 chronic hypertensive retinopathy

Which chronic grade is defined by generalized arteriolar attenuation and increased/widened light reflex?

2:3 to 1:3

How does generalized arteriolar attenuation alter the normal arteriole-to-vein (AV) ratio?

Median reflex

What is the light reflex in the center of a retinal vessel that widens and turns whiter in Grade 1 hypertensive retinopathy?

Grade 2 chronic hypertensive retinopathy

Which chronic grade is characterized by AV crossing changes (AV nicking)?

Grade 3 chronic hypertensive retinopathy

Which chronic grade is defined by copper wiring of retinal arterioles?

Copper wiring

What phenomenon occurs when increased arteriolar reflex turns the red vessel into an orange/copper color?

Grade 4 chronic hypertensive retinopathy

Which chronic grade is characterized by silver wiring of sclerotic retinal vessels?

Silver wiring

What occurs when severe arteriolar sclerosis halts visible blood flow, turning the vessel completely white?

Abrupt blood pressure elevation (e.g., ER crisis, eclampsia/preeclampsia)

What triggers malignant hypertensive retinopathy?

Optic disc swelling / Papilledema

What is the hallmark fundoscopic feature of malignant hypertension?

Fuzzy and indistinct disc borders

What fundoscopic appearance signals that the optic nerve is elevated due to papilledema?

Immediate blood pressure control

What urgent medical intervention is required upon discovering papilledema in malignant hypertension?

Grade 0 malignant hypertensive retinopathy

Which grade indicates no detectable retinal changes in malignant hypertension?

Grade 1 malignant hypertensive retinopathy

Which grade is characterized by barely detectable arteriolar narrowing in malignant hypertension?

Grade 2 malignant hypertensive retinopathy

Which grade shows obvious arterial narrowing with focal irregularities in malignant hypertension?

Grade 3 malignant hypertensive retinopathy

Which grade includes Grade 2 changes plus hemorrhages, cotton wool spots, and retinal edema?

Grade 4 malignant hypertensive retinopathy

Which grade consists of Grade 3 features plus papilledema?

Central retinal vein occlusion (CRVO)

What retinal vascular occlusion is comparable to a hemorrhagic stroke in the eye?

Elderly patients with preexisting hypertension

Which patient demographic most commonly suffers from CRVO?

Sudden, painless blurring of vision

What is the typical visual presentation of central retinal vein occlusion?

Pizza pie appearance

What classic descriptive phrase refers to the widespread blood backflow, hemorrhages, and exudates across the retina in CRVO?