Ocular Manifestations of Systemic Disorders Practice Questions

Q: Kayser-Fleischer rings are seen in which of the following conditions?

Wilson disease. **Explanation:** **Kayser-Fleischer (KF) rings** are the hallmark ocular manifestation of **Wilson disease** (Hepatolenticular degeneration). This condition is an autosomal recessive disorder of copper metabolism caused by a mutation in the *ATP7B* gene, leading to decreased biliary copper excretion and systemic copper accumulation. 1. **Why Wilson Disease is Correct:** In Wilson disease, excess copper is deposited in various tissues. In the eye, copper specifically accumulates in the **Descemet’s membrane** of the cornea. Clinically, this appears as a golden-brown or greenish-brown ring at the periphery of the cornea, starting superiorly, then inferiorly, and eventually becoming circumferential. It is best visualized using a **slit-lamp examination**. 2. **Why Other Options are Incorrect:** * **Cataract:** While Wilson disease can cause a specific "Sunflower cataract" (copper deposition in the anterior lens capsule), a standard cataract refers to lens opacification and does not involve corneal copper rings. * **Glaucoma:** This involves optic nerve damage usually due to raised intraocular pressure; it is not associated with corneal copper deposition. * **Hemochromatosis:** This is a disorder of iron overload. Iron deposition in the eye (Siderosis bulbi) typically affects the iris and lens, but does not form KF rings. **High-Yield Clinical Pearls for NEET-PG:** * **Location:** KF rings are found in the **Descemet’s membrane** (High-yield fact). * **Reversibility:** KF rings may disappear with effective chelation therapy (e.g., D-penicillamine). * **Diagnostic Significance:** They are present in 95% of patients with neurological Wilson disease but only about 50-60% of those with the hepatic form. * **Sunflower Cataract:** Another ocular sign of Wilson disease, involving the lens.

Q: Which of the following is true about Bitot's spots?

Seen with fat malabsorption. **Explanation:** **Bitot’s spots** are characteristic ocular signs of Vitamin A deficiency (VAD). Vitamin A is a fat-soluble vitamin; therefore, any condition causing **fat malabsorption** (such as Celiac disease, cystic fibrosis, chronic pancreatitis, or biliary obstruction) can lead to secondary Vitamin A deficiency and the subsequent development of Bitot’s spots. **Analysis of Options:** * **Option C (Correct):** Vitamin A requires bile salts and dietary fat for absorption. Malabsorption syndromes lead to a systemic deficiency, even with adequate intake. * **Option A (Incorrect):** Bitot’s spots do not predispose to pterygium. Pterygium is primarily associated with chronic UV light exposure and ocular surface inflammation. * **Option B (Incorrect):** Bitot’s spots are caused by **squamous metaplasia** of the conjunctival epithelium and a **loss/destruction of goblet cells**, leading to xerosis (dryness). The foamy appearance is due to the accumulation of keratin debris and gas-producing *Corynebacterium xerosis*. * **Option D (Incorrect):** The most common site is the **temporal** side of the bulbar conjunctiva. While they can occur nasally, the temporal location is more characteristic and usually appears first. **High-Yield Clinical Pearls for NEET-PG:** * **WHO Classification:** Bitot’s spots are classified as **Stage X1B**. * **Appearance:** Triangular, foamy, silvery-white patches that are non-wettable. * **Reversibility:** They are generally reversible with high-dose Vitamin A supplementation, though chronic spots in older children may sometimes persist as "sequelae." * **First Symptom vs. First Sign:** The first *symptom* of VAD is Night Blindness (XN), while the first *clinical sign* is Conjunctival Xerosis (X1A). Bitot's spots (X1B) follow.

Q: The highest risk of uveitis in Juvenile Idiopathic Arthritis (JIA) is associated with which subtype?

ANA-positive oligoarthritis. ### Explanation **Correct Option: C (ANA-positive oligoarthritis)** The risk of chronic anterior uveitis in Juvenile Idiopathic Arthritis (JIA) is determined by three primary factors: the subtype of arthritis, the age of onset, and the presence of Antinuclear Antibodies (ANA). * **Oligoarthritis** (involving ≤4 joints) carries the highest risk of ocular involvement (approx. 20–30%). * **ANA positivity** is the strongest immunological predictor, significantly increasing the risk. * **Early onset** (age <6 years) further elevates the risk. Therefore, an ANA-positive young female with oligoarthritis represents the highest-risk phenotype. **Analysis of Incorrect Options:** * **A. RF-positive polyarthritis:** This subtype typically behaves like adult Rheumatoid Arthritis. While joint destruction is severe, the risk of uveitis is relatively low (approx. 5%). * **B. Systemic JIA (Still’s Disease):** Characterized by high-grade fever, evanescent rash, and hepatosplenomegaly. Interestingly, uveitis is **extremely rare** in this subtype. * **D. Enthesis-related arthritis:** This is associated with HLA-B27. While it does cause uveitis, it typically presents as **acute, symptomatic, and unilateral** episodes, unlike the classic "silent" chronic uveitis seen in the oligoarticular type. **High-Yield Clinical Pearls for NEET-PG:** * **The "Silent" Killer:** JIA-associated uveitis is typically **chronic non-granulomatous anterior uveitis**. It is often asymptomatic (white, painless eye) until complications like band-shaped keratopathy, cataract, or glaucoma occur. * **Screening:** Because it is asymptomatic, frequent slit-lamp examinations (every 3 months for high-risk groups) are mandatory. * **Triad of Complications:** Band-shaped keratopathy, complicated cataract, and secondary glaucoma are the classic late-stage findings.

Q: Which of the following is NOT a characteristic sign of Fuch's heterochromic iridocyclitis?

Posterior synechiae. **Explanation:** **Fuchs’ Heterochromic Iridocyclitis (FHI)** is a chronic, low-grade, typically unilateral non-granulomatous uveitis. The hallmark of this condition is its "quiet" nature despite chronic inflammation. **Why Option A is correct:** The most characteristic feature of FHI is the **absence of posterior synechiae**, even in long-standing cases. This is a high-yield clinical differentiator from other forms of chronic anterior uveitis. If posterior synechiae are present, the diagnosis of FHI should be reconsidered. **Analysis of Incorrect Options:** * **Option B:** FHI typically presents in **young adults** (3rd to 4th decade) with no gender predilection. It is often diagnosed incidentally during a routine exam or when the patient notices a change in iris color. * **Option C:** **Posterior subcapsular cataract** is a very common complication of FHI, occurring in approximately 75-85% of cases due to chronic inflammation and long-term metabolic changes in the aqueous. * **Option D:** **Amsler Sign** (or Amsler’s grid sign) refers to filiform hemorrhage at the limbus following paracentesis or minor trauma (like applanation tonometry). It occurs due to the presence of fragile, fine neovascularization in the angle. **High-Yield Clinical Pearls for NEET-PG:** * **Triad of FHI:** Heterochromia (affected eye is usually lighter/hypochromic), diffuse stellate Keratic Precipitates (KPs) distributed over the entire endothelium, and cataract. * **KPs:** Small, round/stellate, white, and connected by fine fibrin threads. * **Glaucoma:** Secondary open-angle glaucoma is a common late complication and is often harder to manage than the cataract. * **Treatment:** Steroids are generally **not** effective or indicated for the chronic low-grade inflammation in FHI.

Q: A 25-year-old man presented with a history of pain, redness, and watering of the left eye for the last 1 day. There is also photophobia. What is the most probable diagnosis?

Keratitis. **Explanation:** The clinical presentation of acute onset pain, redness, watering, and photophobia in a young male is characteristic of an inflammatory or infectious process of the cornea or anterior segment. **Why Keratitis is the Correct Answer:** Keratitis (corneal inflammation) typically presents with the classic triad of **pain, photophobia, and lacrimation (watering)**. The pain in keratitis is often described as a "foreign body sensation" due to the rich nerve supply of the corneal epithelium. The presence of significant watering (reflex lacrimation) and photophobia strongly points toward corneal involvement. **Analysis of Incorrect Options:** * **Acute Anterior Uveitis:** While it presents with pain, redness, and photophobia, the hallmark is a "dull, aching pain" and a **constricted, sluggish pupil** (miosis). Watering is usually less prominent than in keratitis. * **Acute Posterior Uveitis:** This condition is typically **painless** and presents primarily with floaters or blurred vision. It does not cause redness or watering of the external eye. * **Epidemic Keratoconjunctivitis (EKC):** Caused by Adenovirus, it presents with significant **mucoid/watery discharge** and follicles. While it can cause keratitis (subepithelial opacities), the question describes a more localized acute presentation where keratitis is the primary pathological diagnosis for the symptoms provided. **NEET-PG Clinical Pearls:** * **Ciliary Congestion:** A key sign in both Keratitis and Anterior Uveitis (circumcorneal flush), distinguishing them from Conjunctivitis (conjunctival congestion). * **Fluorescein Staining:** The gold standard bedside test to confirm Keratitis (epithelial defect). * **Photophobia Mechanism:** In keratitis, photophobia occurs due to trigeminal nerve irritation and reflex ciliary muscle spasm.

Q: Ocular examination of a man with a systemic disease shows 'sunflower cataract'. This is typically due to:

Chalcosis. **Explanation:** The **Sunflower Cataract** (Chalcosis lentis) is a pathognomonic finding of **Chalcosis**, which refers to the intraocular deposition of copper. This occurs due to an intraocular copper-containing foreign body or systemic copper metabolism disorders, most notably **Wilson’s Disease** (Hepatolenticular degeneration). The "sunflower" appearance results from copper deposition in the **anterior lens capsule** and subcapsular epithelium. It typically manifests as a central disc with radiating petal-like spokes. Unlike senile cataracts, it usually does not significantly impair vision and may resolve if the copper source is removed or systemic levels are chelated. **Analysis of Incorrect Options:** * **A. Diabetes Mellitus:** Characterized by "Snowflake cataracts" (bilateral, subcapsular milky white spots) due to sorbitol accumulation and osmotic swelling. * **B. Systemic Lupus Erythematosus (SLE):** Primarily causes posterior segment changes like retinal vasculitis or cotton wool spots; it does not cause sunflower cataracts. * **D. Sarcoidosis:** Typically presents with granulomatous uveitis (Mutton-fat KPs) and "string of pearls" vitreous opacities. **High-Yield Clinical Pearls for NEET-PG:** * **Wilson’s Disease Triad:** Sunflower cataract, **Kayser-Fleischer (KF) ring** (copper in Descemet’s membrane), and low serum ceruloplasmin. * **Chalcosis vs. Siderosis:** Copper causes Chalcosis (Sunflower cataract); Iron causes **Siderosis bulbi** (Rusty discoloration/Iron cataract). * **Christmas Tree Cataract:** Seen in Myotonic Dystrophy. * **Oil Droplet Cataract:** Seen in Galactosemia.

Q: A 10-year-old boy presents with bilateral chronic uveitis. Which investigation should be ordered?

All of the above. **Explanation:** In a pediatric patient presenting with bilateral chronic uveitis, a comprehensive systemic workup is mandatory because chronic intraocular inflammation in children is frequently a manifestation of an underlying systemic disease rather than an isolated ocular event. **Why "All of the Above" is Correct:** 1. **Hemogram (Option A):** This is a baseline screening tool. An elevated ESR or CRP suggests systemic inflammation. It also helps screen for **Sarcoidosis** (leukopenia/lymphopenia) or **Leukemia**, which can present as a "masquerade syndrome" mimicking chronic uveitis in children. 2. **X-ray of Sacroiliac (SI) Joint (Option B):** This is crucial to rule out **Juvenile Spondyloarthropathies**. While Juvenile Idiopathic Arthritis (JIA)—the most common cause of pediatric uveitis—is often ANA-positive and RF-negative, other variants like Enthesitis-Related Arthritis (ERA) are associated with HLA-B27 and sacroiliitis. 3. **HIV Test (Option C):** Although less common in children than adults, HIV can cause direct uveitis or predispose the patient to opportunistic infections (like CMV retinitis or Toxoplasmosis) that present as chronic inflammation. In the modern NEET-PG context, ruling out infectious etiologies is a standard part of a "uveitis workup." **Clinical Pearls for NEET-PG:** * **Most Common Cause:** Juvenile Idiopathic Arthritis (JIA) is the leading cause of chronic anterior uveitis in children. * **The "Silent" Uveitis:** JIA-associated uveitis is typically **asymptomatic** (white eye), making screening essential to prevent complications like band-shaped keratopathy and cataracts. * **Triad of JIA Uveitis:** Chronic non-granulomatous anterior uveitis, Band-shaped keratopathy, and Complicated cataract. * **High-Yield Association:** ANA positivity in a child with JIA is the strongest risk factor for developing chronic uveitis.

Q: What is the most common nerve involved in herpes zoster ophthalmicus?

Frontal. **Explanation:** **Herpes Zoster Ophthalmicus (HZO)** occurs due to the reactivation of the Varicella-Zoster Virus (VZV) dormant in the **Trigeminal (V) Ganglion**. The virus travels down the **Ophthalmic Division (V1)** of the trigeminal nerve. 1. **Why Frontal Nerve is Correct:** The Ophthalmic nerve (V1) divides into three branches: Frontal, Lacrimal, and Nasociliary. Among these, the **Frontal nerve** is the most frequently involved branch in HZO. It further divides into the supraorbital and supratrochlear nerves, supplying the skin of the forehead and upper eyelid. 2. **Analysis of Incorrect Options:** * **Lacrimal Nerve:** This is the smallest branch of V1. While it can be involved, it is statistically less common than the frontal nerve. * **Nasociliary Nerve:** Though less common than the frontal nerve, its involvement is clinically significant. It supplies the eyeball and the tip of the nose. Involvement of this nerve leads to **Hutchinson’s Sign** (vesicles on the tip of the nose), which is a strong predictor of intraocular inflammation (keratitis/uveitis). * **Oculomotor Nerve (CN III):** This is a motor nerve. HZO primarily affects sensory nerves. While cranial nerve palsies (III, IV, VI) can occur as rare complications of HZO, they are not the primary site of viral reactivation. **High-Yield Clinical Pearls for NEET-PG:** * **Hutchinson’s Sign:** Vesicles on the side or tip of the nose indicate nasociliary nerve involvement and a higher risk of ocular complications. * **Most common ocular complication:** Epithelial keratitis (often presenting as pseudodendrites, which are elevated and lack terminal bulbs, unlike true HSV dendrites). * **Treatment:** Oral Acyclovir (800 mg 5 times daily for 7–10 days) started within 72 hours of rash onset.

Q: A 28-year-old male complains of glare in both eyes. The cornea shows whorl-like opacities of the epithelium. He also has a history of long-term treatment with amiodarone. What is the most likely diagnosis?

Cornea verticillata. **Explanation:** The clinical presentation of whorl-like epithelial opacities (vortex keratopathy) in a patient taking amiodarone is a classic description of **Cornea Verticillata**. **1. Why Cornea Verticillata is correct:** Cornea verticillata is characterized by fine, golden-brown or grayish-brown deposits in the basal layer of the corneal epithelium, radiating from a point below the pupil in a whorl-like pattern. It is most commonly drug-induced, with **Amiodarone** being the most frequent culprit (occurring in nearly 100% of patients on long-term therapy). Other causes include **Chloroquine/Hydroxychloroquine**, Indomethacin, and systemic **Fabry’s disease** (an X-linked lysosomal storage disorder). These deposits are usually asymptomatic but can cause glare or colored halos. **2. Why other options are incorrect:** * **Terrien’s marginal degeneration:** An idiopathic, non-inflammatory thinning of the peripheral cornea, usually superiorly, leading to against-the-rule astigmatism. It does not present with whorl-like opacities. * **Band-shaped keratopathy:** Characterized by horizontal calcium deposits in the Bowman’s layer, typically seen in chronic uveitis or hypercalcemia. It presents as a "Swiss-cheese" appearance in the interpalpebral fissure. * **Arcus juvenilis:** A lipid deposit at the corneal periphery (similar to arcus senilis) occurring in individuals under 40, often associated with hyperlipoproteinemia. **High-Yield Clinical Pearls for NEET-PG:** * **Amiodarone** causes both Cornea Verticillata and anterior subcapsular lens opacities. * **Fabry’s Disease:** If a patient has cornea verticillata *without* a drug history, suspect Fabry’s disease (look for angiokeratomas and renal failure). * **Reversibility:** Drug-induced cornea verticillata is typically reversible upon discontinuation of the drug, though this is rarely necessary as it doesn't significantly affect vision.

Question 1

Kayser-Fleischer rings are seen in which of the following conditions?

Accepted Answer

Wilson disease

Answer

Cataract

Answer

Glaucoma

Answer

Hemochromatosis

Question 2

Two tumours commonly associated with Masquerade syndrome are:

Accepted Answer

Eyelid sebaceous carcinoma, intraocular lymphoma

Answer

Conjunctival lymphoma, choroidal melanoma

Answer

Conjunctival lymphoma, intraocular lymphoma

Answer

Basal cell carcinoma, retinoblastoma

Question 3

Which of the following is true about Bitot's spots?

Accepted Answer

Seen with fat malabsorption

Answer

Predispose to pterygium

Answer

Caused by hyperplasia of goblet cells

Answer

Most common site is the nasal side of the conjunctiva

Question 4

The highest risk of uveitis in Juvenile Idiopathic Arthritis (JIA) is associated with which subtype?

Accepted Answer

ANA-positive oligoarthritis

Answer

Rheumatoid factor positive polyarthritis

Answer

Systemic JIA

Answer

Enthesis-related arthritis

Question 5

Which of the following is NOT a characteristic sign of Fuch's heterochromic iridocyclitis?

Accepted Answer

Posterior synechiae

Answer

Typically affects young adults

Answer

Development of posterior subcapsular cataract

Answer

Amsler sign

Question 6

A 25-year-old man presented with a history of pain, redness, and watering of the left eye for the last 1 day. There is also photophobia. What is the most probable diagnosis?

Accepted Answer

Keratitis

Answer

Acute, anterior uveitis

Answer

Acute posterior uveitis

Answer

Epidemic keratoconjunctivitis

Question 7

Ocular examination of a man with a systemic disease shows 'sunflower cataract'. This is typically due to:

Accepted Answer

Chalcosis

Answer

Diabetes mellitus

Answer

Systemic lupus erythematosus

Answer

Sarcoidosis

Question 8

A 10-year-old boy presents with bilateral chronic uveitis. Which investigation should be ordered?

Accepted Answer

All of the above

Answer

Hemogram

Answer

X-ray of sacroiliac joint

Answer

HIV test

Question 9

What is the most common nerve involved in herpes zoster ophthalmicus?

Accepted Answer

Frontal

Answer

Lacrimal

Answer

Nasociliary

Answer

Oculomotor

Question 10

A 28-year-old male complains of glare in both eyes. The cornea shows whorl-like opacities of the epithelium. He also has a history of long-term treatment with amiodarone. What is the most likely diagnosis?

Accepted Answer

Cornea verticillata

Answer

Terrien's marginal degeneration

Answer

Band shaped keratopathy

Answer

Arcus juvenilis

Ocular Manifestations of Systemic Disorders — MCQs

Ocular Manifestations of Systemic Disorders — MCQs

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