Ocular Manifestations of Systemic Disorders — MCQs
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A 25-year-old female presents with a 3-day history of redness, pain, and mild diminution of vision in one eye. She also reports low backache for the past year. On examination, there is circumcorneal congestion. The cornea is clear except for a few fine keratic precipitates on the endothelium. The anterior chamber shows 2+ cells, normal depth, and within normal intraocular pressure. What is the most likely diagnosis?
Bilateral ptosis is not seen in which of the following conditions?
What is deposited in Kayser-Fleischer ring?
A 30-year-old female is found to have 'angioid streaks' on retinal examination. Which of the following systemic illnesses is associated with this clinical presentation?
A 56-year-old man presents with a 2-day history of painful, weeping rashes over the upper eyelid and forehead, accompanied by ipsilateral acute punctate keratopathy. He received chemotherapy for Non-Hodgkin's lymphoma approximately one year ago. There are no other significant findings. What is the most likely diagnosis?
What is the most characteristic eye lesion in diabetes mellitus?
Lisch nodule is seen in:
In which of the following conditions is snow banking seen?
A 50-year-old man presented with an orbital mass. Systemic examination revealed anemia, and investigations revealed hypergammaglobulinemia. What condition should be investigated to explain these findings?
Ocular lesions of leprosy include all of the following except?
Ocular Manifestations of Systemic Disorders Indian Medical PG Practice Questions and MCQs
Question 311: A 25-year-old female presents with a 3-day history of redness, pain, and mild diminution of vision in one eye. She also reports low backache for the past year. On examination, there is circumcorneal congestion. The cornea is clear except for a few fine keratic precipitates on the endothelium. The anterior chamber shows 2+ cells, normal depth, and within normal intraocular pressure. What is the most likely diagnosis?
- A. Acute attack of angle closure glaucoma
- B. HLA-B27 related anterior uveitis (Correct Answer)
- C. Juvenile idiopathic arthritis associated uveitis
- D. Herpetic keratitis
Explanation: **Explanation:** The clinical presentation of a young adult with unilateral redness, pain, mild vision loss, circumcorneal congestion, and **fine keratic precipitates (KPs)** with **aqueous cells** is classic for **Acute Anterior Uveitis (AAU)**. The key systemic clue is the **chronic low backache**, which strongly suggests an underlying seronegative spondyloarthropathy, most commonly **Ankylosing Spondylitis**, which is highly associated with the **HLA-B27** haplotype. **Why the other options are incorrect:** * **Acute Angle Closure Glaucoma:** While it presents with redness and pain, it typically occurs in older patients with shallow anterior chambers and significantly elevated intraocular pressure. The presence of KPs and cells specifically indicates an inflammatory (uveitic) process rather than a mechanical pupillary block. * **Juvenile Idiopathic Arthritis (JIA) Uveitis:** This typically presents as a **chronic, asymptomatic (white eye)**, bilateral uveitis in children. It is often associated with a positive ANA and carries a high risk of band-shaped keratopathy and cataracts. * **Herpetic Keratitis:** While it can cause uveitis, it usually presents with corneal signs such as dendritic ulcers or decreased corneal sensations. The systemic association with back pain makes HLA-B27 a much more likely diagnosis. **High-Yield Pearls for NEET-PG:** * **HLA-B27 Spondyloarthropathies:** Remember the mnemonic **PEAR** (Psoriatic arthritis, Enteropathic arthritis, Ankylosing spondylitis, Reactive arthritis). * **Uveitis Characteristics:** HLA-B27 uveitis is typically **acute, unilateral (but recurrent), and non-granulomatous** (fine KPs). * **Management:** The mainstay of treatment is topical corticosteroids (to reduce inflammation) and cycloplegics (e.g., Atropine or Homatropine) to prevent posterior synechiae and relieve ciliary spasm pain.
Question 312: Bilateral ptosis is not seen in which of the following conditions?
- A. Marfan's syndrome (Correct Answer)
- B. Myasthenia gravis
- C. Myotonic dystrophy
- D. Kearns-Sayre syndrome
Explanation: **Explanation:** The correct answer is **Marfan’s syndrome**. **1. Why Marfan’s syndrome is the correct answer:** Marfan’s syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the **FBN1 gene** (fibrillin-1). Its hallmark ocular manifestation is **Ectopia Lentis** (specifically upward and outward subluxation of the lens due to zonular weakness). It does **not** typically involve the levator palpebrae superioris muscle or its nerve supply; therefore, ptosis is not a feature of this condition. **2. Analysis of incorrect options (Conditions where bilateral ptosis is seen):** * **Myasthenia Gravis:** A classic cause of asymmetric or bilateral ptosis that characteristically **worsens with fatigue** (diurnal variation). It is caused by antibodies against acetylcholine receptors at the neuromuscular junction. * **Myotonic Dystrophy:** An autosomal dominant muscular dystrophy. It presents with bilateral ptosis, "Christmas tree" cataracts, and pigmentary retinopathy, alongside systemic features like frontal balding and "hatchet facies." * **Kearns-Sayre Syndrome:** A mitochondrial myopathy characterized by the triad of **Chronic Progressive External Ophthalmoplegia (CPEO)**, pigmentary retinopathy, and heart block. CPEO typically presents with symmetric, bilateral, progressive ptosis. **High-Yield Clinical Pearls for NEET-PG:** * **Cogan’s Lid Twitch:** Seen in Myasthenia Gravis (overshoot of the upper lid when shifting gaze from down to primary position). * **Ice Pack Test:** Used to diagnose Myasthenia; cold improves neuromuscular transmission, reducing ptosis. * **Marcus Gunn Jaw-Winking:** The most common cause of *unilateral* congenital ptosis with synkinesis. * **Simple Rule:** If bilateral ptosis is associated with restricted ocular motility but normal pupils, think of myogenic causes like CPEO or Myasthenia.
Question 313: What is deposited in Kayser-Fleischer ring?
- A. Copper (Correct Answer)
- B. Lead
- C. Mercury
- D. Heme
Explanation: **Explanation:** The **Kayser-Fleischer (KF) ring** is a pathognomonic sign of **Wilson’s disease** (hepatolenticular degeneration). This condition is caused by a mutation in the *ATP7B* gene, leading to impaired biliary excretion of copper. Consequently, free copper accumulates in various tissues, including the liver, brain, and eyes. In the eye, copper is deposited specifically in the **Descemet’s membrane** of the peripheral cornea. It typically appears as a golden-brown or greenish-brown ring, starting superiorly, then inferiorly, and eventually becoming circumferential. **Analysis of Options:** * **A. Copper (Correct):** As explained, the ring results from copper deposition in the Descemet’s membrane. It is present in 95% of patients with neurological Wilson’s disease. * **B. Lead:** Lead poisoning (Plumbism) typically manifests ocularly as optic neuritis or atrophy, but does not form corneal rings. * **C. Mercury:** Chronic mercury exposure can cause **Lenticulatiana** (a rose-brown discoloration of the anterior lens capsule), but not a corneal ring. * **D. Heme:** Heme breakdown products (iron) are found in **Fleischer rings** (seen in Keratoconus) or **Hudson-Stahli lines**, but not in KF rings. **High-Yield Clinical Pearls for NEET-PG:** * **Location:** Descemet’s membrane (Peripheral cornea). * **Detection:** Best visualized using a **Slit-lamp examination** (may be invisible to the naked eye in early stages). * **Reversibility:** The KF ring may disappear with successful chelation therapy (e.g., D-penicillamine). * **Sunflower Cataract:** Another ocular finding in Wilson’s disease where copper deposits in the anterior lens capsule.
Question 314: A 30-year-old female is found to have 'angioid streaks' on retinal examination. Which of the following systemic illnesses is associated with this clinical presentation?
- A. Tay-Sachs disease
- B. Vogt-Koyanagi-Harada syndrome
- C. Wilson's disease
- D. Pseudoxanthoma elasticum (Correct Answer)
Explanation: **Explanation:** **Angioid streaks** are jagged, radiating cracks in a thickened, calcified, and brittle **Bruch’s membrane**. On ophthalmoscopy, they appear as reddish-brown or greyish lines radiating from the peripapillary area, mimicking blood vessels. 1. **Why Pseudoxanthoma Elasticum (PXE) is correct:** PXE (Grönblad-Strandberg syndrome) is the most common systemic association of angioid streaks (found in ~80% of patients). It is a genetic disorder characterized by progressive calcification of elastic fibers in the skin, eyes, and cardiovascular system. The brittle Bruch’s membrane in PXE easily develops these characteristic dehiscences. 2. **Analysis of Incorrect Options:** * **Tay-Sachs disease:** Characterized by a **"Cherry-red spot"** at the macula due to ganglioside accumulation in retinal ganglion cells, not angioid streaks. * **Vogt-Koyanagi-Harada (VKH) syndrome:** A multisystem autoimmune disease presenting with granulomatous panuveitis, exudative retinal detachment, and integumentary signs (poliosis, vitiligo). * **Wilson's disease:** Associated with the **Kayser-Fleischer (KF) ring** (copper deposition in Descemet’s membrane) and "sunflower cataracts," but not retinal streaks. **High-Yield Clinical Pearls for NEET-PG:** * **Mnemonic for Angioid Streaks (PEPSI):** * **P** - **P**seudoxanthoma elasticum (Most common) * **E** - **E**hlers-Danlos syndrome * **P** - **P**aget’s disease of bone * **S** - **S**ickle cell anemia (and other hemoglobinopathies like Thalassemia) * **I** - **I**diopathic * **Vision Loss:** The primary cause of vision loss in these patients is **Choroidal Neovascularization (CNV)** occurring at the site of a streak. * **Skin Finding in PXE:** "Plucked chicken skin" appearance (yellowish papules on the neck/axilla).
Question 315: A 56-year-old man presents with a 2-day history of painful, weeping rashes over the upper eyelid and forehead, accompanied by ipsilateral acute punctate keratopathy. He received chemotherapy for Non-Hodgkin's lymphoma approximately one year ago. There are no other significant findings. What is the most likely diagnosis?
- A. Impetigo
- B. Systemic Lupus Erythematosus
- C. Herpes Zoster (Correct Answer)
- D. Pyoderma gangrenosum
Explanation: **Explanation:** The clinical presentation of painful, weeping rashes in a dermatomal distribution (upper eyelid and forehead) following the ophthalmic division of the trigeminal nerve ($V_1$) is classic for **Herpes Zoster Ophthalmicus (HZO)**. **Why Herpes Zoster is correct:** The patient’s history of chemotherapy for Non-Hodgkin’s lymphoma indicates an immunocompromised state, which is a major risk factor for the reactivation of the latent Varicella-Zoster Virus (VZV) in the trigeminal ganglion. The involvement of the upper eyelid and forehead corresponds to the frontal nerve branch. **Acute punctate keratopathy** is a common early corneal manifestation of HZO, occurring in about 40% of cases. **Why other options are incorrect:** * **Impetigo:** While it causes weeping (honey-colored) crusts, it is a superficial bacterial infection (Staph/Strep) that typically lacks the strict dermatomal distribution and the specific intraocular/corneal involvement seen here. * **Systemic Lupus Erythematosus (SLE):** SLE typically presents with a malar "butterfly" rash that spares the nasolabial folds and is not usually painful or weeping in this specific dermatomal pattern. * **Pyoderma gangrenosum:** This is an inflammatory neutrophilic dermatosis presenting as rapidly enlarging, painful ulcers with undermined violaceous edges, usually associated with IBD or rheumatoid arthritis, not a dermatomal vesicular rash. **High-Yield Clinical Pearls for NEET-PG:** * **Hutchinson’s Sign:** Vesicles on the tip or side of the nose (involvement of the nasociliary nerve) indicate a high risk (76%) of ocular involvement. * **Pseudodendrites:** HZO causes small, peripheral, stellate "pseudodendrites" (no terminal bulbs, unlike Herpes Simplex). * **Treatment:** Oral Acyclovir (800 mg 5x/day for 7-10 days) started within 72 hours of onset reduces the risk of post-herpetic neuralgia and ocular complications.
Question 316: What is the most characteristic eye lesion in diabetes mellitus?
- A. Flame hemorrhages
- B. Papilledema
- C. Capillary aneurysm (Correct Answer)
- D. Cataracts
Explanation: **Explanation:** **Microaneurysms (Capillary aneurysms)** are the hallmark and the **earliest clinically detectable sign** of Diabetic Retinopathy (DR). They occur due to the loss of intramural pericytes, which weakens the capillary wall, leading to focal saccular outpouchings. On fundoscopy, they appear as tiny, round, red dots, usually located in the inner nuclear layer of the retina. Their presence is essential for the diagnosis of Background Diabetic Retinopathy (BDR). **Analysis of Incorrect Options:** * **A. Flame hemorrhages:** These are characteristic of **Hypertensive Retinopathy**. In diabetes, hemorrhages are typically "dot and blot" (located in the deeper retinal layers), whereas flame-shaped hemorrhages occur in the superficial nerve fiber layer. * **B. Papilledema:** This refers to optic disc swelling due to increased intracranial pressure. While diabetics can develop "Diabetic Papillopathy," it is not a characteristic or common finding compared to microaneurysms. * **C. Cataracts:** While diabetes accelerates cataract formation (specifically "Snowflake cataract" in young diabetics or early senile cataracts), it is a secondary complication and not as pathognomonic or "characteristic" of the disease process as microaneurysms. **High-Yield Clinical Pearls for NEET-PG:** * **Earliest Pathological Change:** Basement membrane thickening. * **Earliest Clinical Sign:** Microaneurysms. * **First Sign on FFA:** Microaneurysms appear as "hyperfluorescent dots." * **Pericyte:Endothelial Cell Ratio:** Changes from the normal 1:1 to 1:20 in diabetes. * **Cotton Wool Spots:** Indicate focal retinal ischemia (pre-proliferative stage).
Question 317: Lisch nodule is seen in:
- A. Von-Recklinghausens disease (Correct Answer)
- B. Motor disease
- C. Myasthenia gravis
- D. Drug induced myopathy
Explanation: **Explanation:** **Lisch nodules** are the most common ocular manifestation of **Neurofibromatosis Type 1 (NF-1)**, also known as **Von-Recklinghausen’s disease**. Pathologically, these are melanocytic hamartomas appearing as well-defined, dome-shaped, tan-to-brown elevations on the surface of the iris. They are highly specific for NF-1 and are present in over 95% of affected individuals by age 20. **Analysis of Options:** * **A. Von-Recklinghausens disease (Correct):** As an autosomal dominant multisystem disorder, NF-1 is characterized by Lisch nodules, café-au-lait spots, neurofibromas, and optic nerve gliomas. * **B. Motor disease:** This refers to Motor Neuron Disease (MND), which affects the anterior horn cells and corticospinal tracts. It does not involve the iris or produce hamartomatous lesions. * **C. Myasthenia gravis:** This is an autoimmune neuromuscular junction disorder characterized by ptosis and diplopia due to extraocular muscle weakness, but it does not cause structural iris nodules. * **D. Drug-induced myopathy:** This involves muscle weakness/pain as a side effect of medications (e.g., statins or steroids) and has no association with ocular hamartomas. **High-Yield Clinical Pearls for NEET-PG:** * **Diagnostic Value:** Lisch nodules do not affect vision but are a crucial diagnostic criterion for NF-1. * **Slit-lamp Examination:** They are best visualized using a slit lamp; they are rarely seen in Neurofibromatosis Type 2 (NF-2). * **Other NF-1 Ocular Signs:** Optic nerve glioma (most common visceral tumor), sphenoid wing dysplasia, and pulsatile exophthalmos. * **NF-2 Ocular Sign:** The hallmark ocular finding in NF-2 is **PSC (Posterior Subcapsular Cataract)** or juvenile cortical cataracts, not Lisch nodules.
Question 318: In which of the following conditions is snow banking seen?
- A. Leprotic uveitis
- B. Candidiasis
- C. Pars planitis (Correct Answer)
- D. Fuchs iridocyclitis
Explanation: **Explanation:** **Pars planitis** is a specific subset of intermediate uveitis characterized by idiopathic inflammation of the *pars plana* (the posterior part of the ciliary body). The hallmark clinical feature is **"snow banking,"** which refers to the accumulation of white, exudative inflammatory material (fibrovascular membranes) over the inferior pars plana and ora serrata. This is often accompanied by **"snowballs,"** which are inflammatory cells aggregated in the vitreous. **Analysis of Options:** * **Pars planitis (Correct):** It is the classic condition associated with snow banking and snowballs. It primarily affects children and young adults and is often associated with Cystoid Macular Edema (CME), the most common cause of vision loss in these patients. * **Leprotic uveitis:** Typically presents as chronic granulomatous anterior uveitis. Characteristic features include "pearls" on the iris (iris pearls) and neuroparalytic keratitis, not snow banking. * **Candidiasis:** Ocular candidiasis presents as fungal endophthalmitis with "string of pearls" or "fluffy white colonies" in the vitreous, but it does not form the organized exudative banks seen in pars planitis. * **Fuchs iridocyclitis:** A chronic, non-granulomatous uveitis characterized by heterochromia iridis, diffuse stellate keratic precipitates (KPs), and early cataract formation. It does not involve the pars plana. **High-Yield Clinical Pearls for NEET-PG:** * **Most common complication of Pars Planitis:** Cystoid Macular Edema (CME). * **Snow banking location:** Usually found in the **inferior** quadrant. * **Treatment:** Steroids (Periocular/Systemic) are the first line; Cryotherapy or Laser photocoagulation is used for the snowbank area if complications arise. * **Differential:** Always rule out Sarcoidosis and Multiple Sclerosis in patients presenting with intermediate uveitis.
Question 319: A 50-year-old man presented with an orbital mass. Systemic examination revealed anemia, and investigations revealed hypergammaglobulinemia. What condition should be investigated to explain these findings?
- A. Squamous cell carcinoma
- B. Optic nerve glioma
- C. Multiple myeloma (Correct Answer)
- D. Malignant melanoma
Explanation: **Explanation:** The clinical presentation of an **orbital mass** associated with **anemia** and **hypergammaglobulinemia** is a classic triad pointing toward **Multiple Myeloma (MM)**. **Why Multiple Myeloma is correct:** Multiple Myeloma is a neoplastic proliferation of plasma cells. These cells produce excessive monoclonal immunoglobulins (M-protein), leading to **hypergammaglobulinemia**. The infiltration of bone marrow by plasma cells causes **anemia** and "punched-out" lytic lesions. In the orbit, MM typically manifests as a rapidly progressing plasmacytoma, often involving the orbital bones (most commonly the frontal bone), resulting in proptosis and a palpable mass. **Why the other options are incorrect:** * **Squamous cell carcinoma:** While it can involve the orbit (usually via local spread from the eyelid or sinuses), it does not typically cause systemic hypergammaglobulinemia. * **Optic nerve glioma:** This is a benign tumor primarily seen in children (often associated with Neurofibromatosis type 1). It presents with axial proptosis and vision loss, not systemic hematological abnormalities. * **Malignant melanoma:** Uveal melanoma is the most common primary intraocular tumor in adults. While it can metastasize, it does not present with hypergammaglobulinemia. **High-Yield Clinical Pearls for NEET-PG:** * **Orbital Plasmacytoma:** May be the first sign of occult Multiple Myeloma. * **Ocular signs of MM:** Include "pars plana cysts" (highly characteristic), crystalline keratopathy, and hyperviscosity retinopathy (venous dilation and hemorrhages). * **Diagnostic Triad for MM:** Plasma cells in bone marrow >10%, lytic bone lesions, and M-protein in serum/urine. * **Bence-Jones proteins:** Light chains found in the urine of MM patients.
Question 320: Ocular lesions of leprosy include all of the following except?
- A. Iritis
- B. Cataract
- C. Secondary glaucoma
- D. Fasicular keratitis (Correct Answer)
Explanation: **Explanation:** Leprosy (Hansen’s Disease), caused by *Mycobacterium leprae*, affects the eye through direct bacterial invasion or secondary to nerve involvement (CN V and VII). **Why Fascicular Keratitis is the correct answer:** Fascicular keratitis is a characteristic feature of **Phlyctenular Keratoconjunctivitis**, which is a delayed hypersensitivity reaction (Type IV) to endogenous antigens, most commonly **Tuberculosis**. It is characterized by a limbal phlycten that migrates towards the center of the cornea, trailing a leash of superficial blood vessels. It is **not** a feature of Leprosy. **Analysis of other options:** * **Iritis:** Chronic granulomatous uveitis (iritis/iridocyclitis) is a hallmark of lepromatous leprosy. It can present as "iris pearls" (small white miliary lepromas) or acute plastic iridocyclitis. * **Cataract:** This is a common secondary complication in leprosy, often resulting from chronic low-grade uveitis (complicated cataract) or prolonged corticosteroid use. * **Secondary Glaucoma:** This occurs due to chronic inflammation (uveitis) leading to synechiae formation or trabecular meshwork blockage. **High-Yield Clinical Pearls for NEET-PG:** * **Most common ocular lesion in Leprosy:** Madarosis (loss of eyebrows/eyelashes, typically starting laterally). * **Lagophthalmos:** Occurs due to involvement of the Facial Nerve (CN VII), leading to exposure keratitis. * **Corneal anesthesia:** Due to Trigeminal Nerve (CN V) involvement, predisposing the patient to painless corneal ulcers. * **Pathognomonic sign:** "Iris pearls" are highly suggestive of lepromatous leprosy.
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