Ocular Manifestations of Systemic Disorders Practice Questions

Q: A patient presents with freckling in the axilla and inguinal area since childhood. Which of the following is NOT an ophthalmological examination finding in such a patient?

Aniridia. **Explanation:** The clinical presentation of axillary and inguinal freckling (Crowe’s sign) is pathognomonic for **Neurofibromatosis Type 1 (NF1)**, also known as von Recklinghausen disease. NF1 is an autosomal dominant multisystem disorder caused by a mutation in the *NF1* gene on chromosome 17. **Why Aniridia is the Correct Answer:** **Aniridia** (Option D) is the absence of the iris. It is typically associated with mutations in the **PAX6 gene** and is clinically linked to **WAGR syndrome** (Wilms tumor, Aniridia, Genitourinary anomalies, and intellectual disability). It is not a feature of Neurofibromatosis. **Analysis of Incorrect Options (Features of NF1):** * **Optic Nerve Glioma (Option A):** This is a Grade I pilocytic astrocytoma and occurs in approximately 15% of NF1 patients, usually appearing in the first decade of life. * **Lisch Nodules (Option B):** These are melanocytic hamartomas of the iris. They are the most common ocular finding in NF1 and are present in nearly all affected adults. * **Choroidal Nevi/Hamartomas (Option C):** Recent studies and OCT imaging have shown that multifocal choroidal abnormalities (bright patches) are highly sensitive diagnostic markers for NF1. **High-Yield Clinical Pearls for NEET-PG:** * **NF1 (Chromosome 17):** Diagnostic criteria include ≥6 Café-au-lait spots, Lisch nodules, Optic glioma, and sphenoid wing dysplasia. * **NF2 (Chromosome 22):** Characterized by bilateral acoustic neuromas. The classic ocular finding is **PSC (Posterior Subcapsular Cataract)** or combined hamartoma of the retina and RPE. * **Pulsating Proptosis:** In NF1, this occurs due to **sphenoid wing dysplasia**, which allows transmission of CSF pulsations to the orbit.

Q: 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?

HLA-B27 related anterior uveitis. **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.

Q: What is deposited in Kayser-Fleischer ring?

Copper. **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.

Q: 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?

Pseudoxanthoma elasticum. **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).

Q: 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?

Herpes Zoster. **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.

Q: Ocular lesions of leprosy include all of the following except?

Fasicular keratitis. **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.

Q: Which of the following is true about measles?

All the above. **Explanation:** Measles (Rubeola) is a highly contagious systemic viral infection caused by the **Measles virus**, which is a single-stranded, negative-sense **RNA virus** belonging to the *Paramyxoviridae* family (Genus: *Morbillivirus*). The ocular manifestations of measles are significant and often precede the characteristic skin rash. * **Acute Catarrhal Conjunctivitis:** This is a hallmark prodromal feature of measles, typically presenting with redness, swelling, and a mucopurulent discharge. It is part of the classic "3 Cs" triad: Cough, Coryza, and Conjunctivitis. * **Koplik’s Spots:** While classically described as bluish-white spots on the buccal mucosa opposite the lower molars, these pathognomonic lesions can also occasionally be seen on the **conjunctiva** (specifically the caruncle or plica semilunaris) during the early stages of the disease. Since all statements (RNA virus, Koplik's spots on conjunctiva, and acute catarrhal conjunctivitis) are medically accurate, **Option D** is the correct answer. **High-Yield Clinical Pearls for NEET-PG:** * **Vitamin A Supplementation:** Crucial in measles management to prevent secondary bacterial keratitis and xerophthalmia, which are leading causes of blindness in children post-measles. * **Keratitis:** Measles can cause a superficial punctate keratitis (SPK). * **Warthin-Finkeldey Cells:** Multinucleated giant cells seen in lymphoid tissue, characteristic of measles. * **SSPE:** Subacute sclerosing panencephalitis is a rare, fatal late complication occurring years after the initial infection.

Q: Melanoma of the choroid spreads most commonly to which organ?

Liver. **Explanation:** Uveal melanoma (specifically of the choroid) is the most common primary intraocular malignancy in adults. Unlike most other systemic cancers, the eye lacks a formal lymphatic drainage system. Consequently, choroidal melanoma spreads almost exclusively via the **hematogenous route** (bloodstream). **Why Liver is Correct:** The liver is the most common site of metastasis, occurring in over **90-95%** of patients who develop metastatic disease. The liver's high vascularity and specific microenvironment make it a "fertile soil" for circulating uveal melanoma cells. In many cases, the liver is the *only* site of metastasis at the time of diagnosis, which is why baseline liver function tests (LFTs) and abdominal imaging (USG/MRI) are mandatory in the initial workup. **Why Other Options are Incorrect:** * **Lungs:** While the lungs are the second most common site of metastasis, they are involved far less frequently than the liver. This contrasts with many other solid tumors where the lungs are the primary filter for hematogenous spread. * **Kidneys and Adrenals:** These are rare sites for uveal melanoma metastasis. While systemic dissemination can eventually reach these organs, they are never the most common or primary site of spread. **High-Yield Clinical Pearls for NEET-PG:** * **Route of Spread:** Strictly hematogenous (No lymphatics in the globe). * **Most Common Site:** Liver (95%). * **Prognostic Factors:** The most important histological prognostic factor is the **cell type** (Epithelioid cells have the worst prognosis; Spindle A has the best). * **Genetic Marker:** Monosomy 3 is a strong predictor of metastatic potential and poor prognosis. * **Differential Diagnosis:** Must be distinguished from a benign choroidal nevus using the "To Find Small Ocular Melanoma Using Helpful Hints Daily" (TFSOM-UHHD) mnemonic.

Q: What is the most common type of ocular lymphoma?

B-cell NHL. **Explanation:** **1. Why B-cell NHL is Correct:** The vast majority of ocular lymphomas (both intraocular and adnexal) are **Non-Hodgkin Lymphomas (NHL)**, and of these, approximately **90-95% are of B-cell origin**. * **Primary Intraocular Lymphoma (PIOL):** This is a subset of Primary Central Nervous System Lymphoma (PCNSL). It is almost exclusively a **Diffuse Large B-Cell Lymphoma (DLBCL)**. * **Ocular Adnexal Lymphoma:** These involve the orbit, eyelids, or conjunctiva. The most common subtype here is the **MALT lymphoma** (Mucosa-Associated Lymphoid Tissue), which is also a B-cell lineage. **2. Why Other Options are Incorrect:** * **A & D (T-cell Lymphomas):** While T-cell lymphomas can occur in the eye or orbit (often associated with aggressive systemic disease or NK/T-cell types in the midline facial structures), they are significantly rarer than B-cell types. * **B (Hodgkin’s Lymphoma):** Hodgkin’s lymphoma very rarely involves the eye or the orbit. It primarily affects lymph nodes in the neck and chest; extranodal involvement of the eye is an exceptional clinical rarity. **3. High-Yield Clinical Pearls for NEET-PG:** * **"Masquerade Syndrome":** Primary Intraocular Lymphoma is the classic "masquerade syndrome" because it often presents as chronic, treatment-resistant posterior uveitis (vitritis) in elderly patients. * **Diagnostic Hallmark:** Cytology of a **vitreous biopsy** is the gold standard. Look for a high LDH level and an **IL-10 to IL-6 ratio > 1** (suggestive of lymphoma). * **Association:** Always perform an **MRI of the brain** in suspected PIOL, as there is a high correlation with CNS involvement. * **Adnexal Appearance:** Conjunctival lymphoma typically presents as a painless, **"salmon-pink" patch** in the fornix.

Q: Which of the following is a cause for sudden vision loss in a diabetic patient?

Vitreous hemorrhage. **Explanation:** In a diabetic patient, **Vitreous Hemorrhage (VH)** is the most common cause of **sudden, painless loss of vision**. It typically occurs in the stage of Proliferative Diabetic Retinopathy (PDR), where fragile neovascularization at the disc (NVD) or elsewhere (NVE) ruptures, bleeding into the vitreous cavity. Patients often describe "floaters" or "cobwebs" followed by a rapid "blackout" of vision. **Analysis of Options:** * **A. Central Retinal Artery Occlusion (CRAO):** While it causes sudden painless vision loss, it is primarily associated with hypertension, carotid atherosclerosis, or cardiac emboli rather than being a direct complication of diabetes. * **C. Tractional Retinal Detachment (TRD):** This is a classic complication of PDR caused by the contraction of fibrovascular membranes. However, the vision loss in TRD is typically **gradual and progressive** (painless) rather than sudden, unless the macula is abruptly involved. * **D. Neovascular Glaucoma (NVG):** This results from rubeosis iridis (new vessels on the iris) blocking the aqueous outflow. It causes vision loss that is usually **painful** and associated with a red eye and very high intraocular pressure. **NEET-PG High-Yield Pearls:** * **Most common cause of legal blindness in diabetics:** Diabetic Macular Edema (DME) – causes *gradual* vision loss. * **Most common cause of sudden vision loss in PDR:** Vitreous Hemorrhage. * **B-Scan Ultrasonography:** The investigation of choice to rule out underlying retinal detachment when the fundus is obscured by vitreous hemorrhage. * **Management:** Conservative (head elevation) initially; Pars Plana Vitrectomy (PPV) if the hemorrhage fails to resolve or if TRD is present.

Question 1

A patient presents with freckling in the axilla and inguinal area since childhood. Which of the following is NOT an ophthalmological examination finding in such a patient?

Accepted Answer

Aniridia

Answer

Optic nerve glioma

Answer

Lisch nodules

Answer

Choroidal nevi

Question 2

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?

Accepted Answer

HLA-B27 related anterior uveitis

Answer

Acute attack of angle closure glaucoma

Answer

Juvenile idiopathic arthritis associated uveitis

Answer

Herpetic keratitis

Question 3

What is deposited in Kayser-Fleischer ring?

Accepted Answer

Copper

Answer

Lead

Answer

Mercury

Answer

Heme

Question 4

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?

Accepted Answer

Pseudoxanthoma elasticum

Answer

Tay-Sachs disease

Answer

Vogt-Koyanagi-Harada syndrome

Answer

Wilson's disease

Question 5

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?

Accepted Answer

Herpes Zoster

Answer

Impetigo

Answer

Systemic Lupus Erythematosus

Answer

Pyoderma gangrenosum

Question 6

Ocular lesions of leprosy include all of the following except?

Accepted Answer

Fasicular keratitis

Answer

Iritis

Answer

Cataract

Answer

Secondary glaucoma

Question 7

Which of the following is true about measles?

Accepted Answer

All the above

Answer

It is an RNA virus

Answer

Causes Koplik's spots on the conjunctiva

Answer

Acute catarrhal conjunctivitis is a known feature

Question 8

Melanoma of the choroid spreads most commonly to which organ?

Accepted Answer

Liver

Answer

Lungs

Answer

Kidneys

Answer

Adrenals

Question 9

What is the most common type of ocular lymphoma?

Accepted Answer

B-cell NHL

Answer

T-cell lymphoma

Answer

Hodgkin's lymphoma

Answer

Pre T-cell lymphoma

Question 10

Which of the following is a cause for sudden vision loss in a diabetic patient?

Accepted Answer

Vitreous hemorrhage

Answer

Central retinal artery occlusion

Answer

Tractional retinal detachment

Answer

Neovascular glaucoma

Ocular Manifestations of Systemic Disorders — MCQs

Ocular Manifestations of Systemic Disorders — MCQs

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