Ocular Manifestations of Systemic Disorders Practice Questions

Q: A patient presents with redness and pain in the eye. Examination findings are given below. What is the investigation of choice to diagnose this condition?

HLA-B27. ***HLA-B27*** - This genetic marker is strongly associated with **acute anterior uveitis**, the most common ocular manifestation of **seronegative spondyloarthropathies** like **ankylosing spondylitis**. - Testing for HLA-B27 is the diagnostic investigation of choice when a patient presents with **unilateral redness**, **photophobia**, and **pain**, particularly if they have associated spinal or back symptoms. *Anti-CCP antibodies* - This antibody is highly specific for the diagnosis of **rheumatoid arthritis**. - While rheumatoid arthritis can cause ocular issues like **scleritis** or **keratoconjunctivitis sicca**, it is not the primary diagnostic investigation for acute anterior uveitis. *ANA* - **Antinuclear antibodies (ANA)** are primarily used in the workup for **systemic lupus erythematosus (SLE)** and **juvenile idiopathic arthritis (JIA)**. - While JIA is a common cause of uveitis in children, HLA-B27 is the more relevant association for acute (often unilateral) anterior uveitis in adult populations. *X-ray chest* - An **X-ray of the chest** is typically indicated to screen for **sarcoidosis** or **tuberculosis**, which can cause **granulomatous uveitis**. - However, it is not the initial investigation of choice for standard acute anterior uveitis unless systemic features of these specific conditions are present.

Q: Images show café-au-lait spots, Lisch nodules on the iris, and swelling near the eye. Identify the most likely syndrome:

NF-1. ### ***NF-1 (Neurofibromatosis type 1)*** - The combination of **café-au-lait macules** and **Lisch nodules** (iris hamartomas) represents classic pathognomonic clinical features of **Neurofibromatosis type 1**. - The swelling near the eye likely represents a **plexiform neurofibroma**, which is a highly characteristic, often congenital manifestation of this condition involving peripheral nerves. *Tuberous sclerosis* - Commonly presents with **ash-leaf spots** (hypopigmented macules) rather than hyperpigmented café-au-lait spots, and **angiofibromas** on the face. - Ocular findings typically include **retinal astrocytic hamartomas** rather than iris Lisch nodules, emphasizing a key diagnostic distinction. *Sturge-Weber syndrome* - Characterized by the **port-wine stain** (nevus flammeus) in the distribution of the **trigeminal nerve** on the face, not cafe-au-lait spots. - Ocular involvement usually manifests as **glaucoma** or choroidal hemangioma, distinguishing it from the neurofibromas seen in NF-1. *Von Hippel-Lindau disease* - Known for the development of **retinal capillary hemangioblastomas**, not iris Lisch nodules or neurofibromas. - Systemic associations primarily involve **hemangioblastomas** of the CNS and **renal cell carcinoma**, unlike the dermal and iris signs listed.

Q: Sudden painful diminition of vision in Anterior Uveitis is due to?

Ciliary muscle spasm. **Explanation:** In **Anterior Uveitis** (Iridocyclitis), the inflammation of the iris and ciliary body leads to a classic triad of symptoms: pain, photophobia, and blurred vision. **1. Why Ciliary Muscle Spasm is correct:** The hallmark of pain and sudden visual disturbance in acute anterior uveitis is the **spasm of the ciliary muscle and the iris sphincter**. The inflammation irritates these smooth muscles, causing them to contract uncontrollably. This spasm results in: * **Pain:** A deep, throbbing ache (ciliary neuralgia). * **Diminution of vision:** The spasm induces "accommodative spasm," shifting the refractive state toward myopia (pseudomyopia), which causes blurring of distance vision. **2. Analysis of Incorrect Options:** * **A. Blood in Anterior chamber (Hyphema):** While blood can cause sudden vision loss, it is not a standard feature of primary anterior uveitis unless it is traumatic or associated with specific syndromes like Fuchs' Heterochromic Iridocyclitis (Amsler sign). * **B. Cells in Anterior chamber:** While "cells and flare" are the diagnostic signs of uveitis, they typically cause a gradual "mistiness" or "haze" rather than sudden painful diminution. * **C. Edema of Cornea:** This occurs in late stages or if there is secondary glaucoma (due to high IOP). While it causes blurred vision, it is a secondary complication rather than the primary cause of the initial painful spasm. **Clinical Pearls for NEET-PG:** * **Treatment Gold Standard:** Cycloplegics (e.g., **Atropine or Homatropine**) are used specifically to paralyze the ciliary muscle, thereby relieving the spasm and the associated pain. * **Miosis:** The iris sphincter spasm leads to a small, sluggishly reacting pupil, which helps differentiate uveitis from Acute Congestive Glaucoma (where the pupil is mid-dilated). * **Ciliary Flush:** The characteristic redness in uveitis is due to the engorgement of anterior ciliary vessels.

Q: Vogt Koyanagi–Harada (VKH) syndrome is characterized by which of the following types of uveitis?

Chronic granulomatous uveitis. **Explanation:** Vogt-Koyanagi-Harada (VKH) syndrome is a multisystem autoimmune disorder characterized by T-cell mediated destruction of melanocytes. It typically presents as a **bilateral, chronic granulomatous panuveitis** associated with extraocular manifestations involving the integumentary (poliosis, vitiligo, alopecia) and central nervous systems (meningismus, tinnitus, hearing loss). * **Why Option A is correct:** The hallmark of VKH is granulomatous inflammation. Histologically, this is characterized by "Dalen-Fuchs nodules" (clusters of epithelioid cells and macrophages between the RPE and Bruch’s membrane) and diffuse thickening of the uveal tract with non-necrotizing granulomas. * **Why Option B is incorrect:** Non-granulomatous uveitis is typically associated with HLA-B27 related conditions (like Ankylosing Spondylitis) or idiopathic acute anterior uveitis. VKH involves the formation of granulomas, which is a specific type of chronic inflammatory response. * **Why Option C is incorrect:** Purulent uveitis (Endophthalmitis) is caused by pyogenic organisms (bacteria/fungi) and is characterized by pus formation and intense neutrophilic infiltration, which is not the mechanism in VKH. **High-Yield Clinical Pearls for NEET-PG:** * **Target Antigen:** Tyrosinase-related proteins (found in melanocytes). * **Four Stages:** Prodromal (flu-like), Uveitic (exudative retinal detachment), Convalescent ("Sunset Glow Fundus"), and Chronic Recurrent. * **Sunset Glow Fundus:** An orange-red discoloration of the fundus due to depigmentation of the RPE, seen in the convalescent stage. * **Sugiura’s Sign:** Perilimbal vitiligo (highly specific for VKH). * **Treatment:** High-dose systemic corticosteroids and immunosuppressants.

Q: What is the most common cause of endophthalmitis in patients with AIDS?

Candida. **Explanation:** **1. Why Candida is Correct:** In patients with AIDS or other immunocompromised states, **Candida albicans** is the most common cause of endogenous endophthalmitis. It typically occurs via hematogenous spread, often associated with intravenous drug use, long-term indwelling catheters, or prolonged antibiotic therapy. Clinically, it presents as characteristic "fluffy white cotton-ball" chorioretinal exudates that can extend into the vitreous (vitritis), often described as a "string of pearls" appearance. **2. Why the Other Options are Incorrect:** * **Rhizopus (A):** This is the causative agent of Mucormycosis. While it is a devastating fungal infection in immunocompromised patients (especially those with diabetic ketoacidosis), it typically causes **Rhino-orbital-cerebral mucormycosis** (orbital cellulitis and necrosis) rather than primary endophthalmitis. * **Aspergillus (B):** This is the second most common fungal cause of endogenous endophthalmitis. It is more aggressive than Candida, often leading to rapid vision loss and macular infarction, but it is statistically less frequent. * **Cryptococcus (C):** While *Cryptococcus neoformans* is a common cause of fungal meningitis in AIDS patients, its ocular involvement usually manifests as **papilledema** (due to increased intracranial pressure) or optic neuropathy rather than endophthalmitis. **3. Clinical Pearls for NEET-PG:** * **Most common overall ocular opportunistic infection in AIDS:** CMV Retinitis (presents with "Pizza-pie" or "Cottage cheese and ketchup" appearance). * **Most common fungal endophthalmitis:** Candida albicans. * **Drug of Choice:** Systemic Fluconazole or Voriconazole; Intravitreal Amphotericin B is used for severe vitritis. * **Key differentiator:** If the question asks for the most common *viral* cause, it is CMV; if it asks for *fungal*, it is Candida.

Q: Granulomatous uveitis is seen in all of the following conditions except?

Uveitis associated with ankylosing spondylitis. **Explanation:** Uveitis is pathologically classified into two types: **Granulomatous** and **Nongranulomatous**. The differentiation is crucial for diagnosing systemic associations. **1. Why Ankylosing Spondylitis (AS) is the correct answer:** Uveitis associated with **Ankylosing Spondylitis** is the classic prototype of **Nongranulomatous uveitis**. It typically presents as an acute, unilateral, recurrent anterior uveitis. It is strongly associated with the **HLA-B27** marker. Pathologically, it lacks the organized collection of macrophages (granulomas) and presents with fine, small keratic precipitates (KPs) on the corneal endothelium. **2. Why the other options are incorrect (Granulomatous causes):** * **Sympathetic Ophthalmitis:** A bilateral granulomatous panuveitis following penetrating ocular trauma. It is characterized by **Dalen-Fuchs nodules** (granulomas between the RPE and Bruch’s membrane). * **Tubercular Uveitis:** Tuberculosis is a chronic infectious granulomatous disease. Ocular involvement typically shows "mutton-fat" KPs and iris nodules (Koeppe and Busacca nodules). * **Sarcoidosis:** A multisystem idiopathic disease characterized by non-caseating granulomas. It frequently causes granulomatous uveitis with a "string of pearls" appearance in the vitreous. **Clinical Pearls for NEET-PG:** * **Mutton-fat KPs:** Large, greasy-looking clusters of epithelioid cells and macrophages; a hallmark of **Granulomatous uveitis**. * **HLA-B27 Triad:** Ankylosing spondylitis, Reiter’s syndrome (Reactive arthritis), and Psoriatic arthritis all cause **Nongranulomatous** uveitis. * **Vogt-Koyanagi-Harada (VKH) syndrome:** Another high-yield cause of bilateral granulomatous panuveitis associated with poliosis and vitiligo.

Q: Which of the following is NOT true about Behçet's disease?

It generally has a good visual prognosis.. **Explanation:** Behçet's disease is a chronic, multisystem idiopathic occlusive vasculitis. The correct answer is **Option C** because Behçet's disease typically has a **poor visual prognosis**. It is characterized by recurrent inflammatory episodes that lead to cumulative damage, including retinal vasculitis, macular edema, and optic atrophy, often resulting in legal blindness if not aggressively managed. **Analysis of Options:** * **Option A:** This describes the classic **Behçet’s Triad**. The disease is clinically diagnosed based on recurrent oral aphthous ulcers (most common), genital ulcers, and ocular involvement. * **Option B:** Ocular involvement occurs in about 70% of patients. It typically presents as a **bilateral, non-granulomatous uveitis**. A hallmark is the "transient" or "shifting" **hypopyon**, which disappears quickly as the inflammation subsides. * **Option D:** Since the disease is an autoimmune vasculitis, systemic immunosuppression is mandatory. **Chlorambucil** and Cyclophosphamide (alkylating agents) are historically used for sight-threatening posterior uveitis to induce remission. **High-Yield Clinical Pearls for NEET-PG:** * **HLA Association:** Strongly associated with **HLA-B51**. * **Pathergy Test:** A unique diagnostic feature where a sterile pustule forms 24-48 hours after a skin prick with a needle. * **Ocular Hallmark:** Recurrent hypopyon and **obliterative retinal vasculitis** (leading to a "bloodless" retina in late stages). * **Treatment:** Biologicals like **Infliximab** (anti-TNFα) are now considered first-line for severe ocular Behçet's.

Q: All of the following are histopathologic features of sympathetic ophthalmia except?

Necrosis. **Explanation:** Sympathetic Ophthalmia (SO) is a rare, bilateral, non-necrotizing granulomatous panuveitis that occurs following a penetrating injury or intraocular surgery in one eye (the "exciting" eye), leading to inflammation in the fellow eye (the "sympathizing" eye). **Why Necrosis is the correct answer:** The hallmark of Sympathetic Ophthalmia is **non-necrotizing** granulomatous inflammation. Unlike other granulomatous conditions like tuberculosis or fungal infections, SO is characterized by a diffuse infiltration of the uveal tract without any tissue necrosis. Therefore, the presence of necrosis is inconsistent with this diagnosis. **Analysis of other options:** * **Giant cells (Option B):** Histology typically shows multinucleated giant cells (Langhans or foreign body type) within the choroid, often containing phagocytosed uveal pigment (Dalen-Fuchs nodules). * **T lymphocytes (Option C):** SO is a T-cell mediated autoimmune response against uveal antigens (likely melanin-related). The uveal infiltrate is predominantly composed of T lymphocytes. * **Eosinophils (Option D):** While less common than lymphocytes, eosinophils are frequently found in the early stages of the inflammatory infiltrate in SO. **High-Yield Clinical Pearls for NEET-PG:** * **Sparing of the Choriocapillaris:** A classic histopathologic feature of SO is that the choriocapillaris and the retina are typically spared from the inflammatory process. * **Dalen-Fuchs Nodules:** These are pathognomonic clusters of epithelioid cells and pigment-laden macrophages located between the RPE and Bruch’s membrane. * **Latent Period:** Most cases occur within 3 months of injury, but the risk remains lifelong. * **Management:** Immediate enucleation of the injured eye (within 2 weeks) can prevent SO, but once inflammation starts in the sympathizing eye, systemic steroids and immunosuppressants are the mainstay of treatment.

Q: What is a common ocular manifestation in Trisomy 13?

Bilateral microphthalmos. **Explanation:** **Trisomy 13 (Patau Syndrome)** is a severe chromosomal disorder characterized by a failure of normal forebrain and midline facial development. The hallmark ocular finding in Trisomy 13 is **bilateral microphthalmos**, which often occurs as part of a spectrum of severe malformations, including **uveal colobomas** and **persistent hyperplastic primary vitreous (PHPV)**. In extreme cases, it can present as anophthalmos or cyclopia. A high-yield histopathological feature specific to Trisomy 13 is the presence of **intraocular cartilage** within a ciliary body coloboma. **Analysis of Incorrect Options:** * **A. Capillary Hemangioma:** This is the most common benign orbital tumor of childhood, typically associated with **PHACE syndrome**, not Trisomy 13. * **C. Neurofibroma:** These are characteristic of **Neurofibromatosis Type 1 (NF1)**. Plexiform neurofibromas give the classic "bag of worms" sensation and S-shaped eyelid deformity. * **D. Dermoid Cyst:** These are choristomas commonly found at the superotemporal orbital rim. While epibulbar dermoids are associated with **Goldenhar syndrome**, they are not a feature of Trisomy 13. **NEET-PG High-Yield Pearls:** * **Trisomy 13 (Patau):** Microphthalmos, Coloboma, Intraocular cartilage, Cataract. * **Trisomy 18 (Edwards):** Ptosis, Corneal opacities, Congenital glaucoma. * **Trisomy 21 (Down):** Upslanting palpebral fissures, Epicanthal folds, **Brushfield spots** (iris hyperplasia), Keratoconus, and high risk of early-onset cataracts. * **Cat-eye Syndrome:** Associated with Coloboma and Chromosome 22 partial trisomy.

Question 1

A patient presents with redness and pain in the eye. Examination findings are given below. What is the investigation of choice to diagnose this condition?

Accepted Answer

HLA-B27

Answer

Anti-CCP antibodies

Answer

ANA

Answer

X-ray chest

Question 2

Images show café-au-lait spots, Lisch nodules on the iris, and swelling near the eye. Identify the
most likely syndrome:

Accepted Answer

NF-1

Answer

Tuberous sclerosis

Answer

Sturge-Weber syndrome

Answer

Von Hippel-Lindau disease

Question 3

Sudden painful diminition of vision in Anterior Uveitis is due to?

Accepted Answer

Ciliary muscle spasm

Answer

Blood in Anterior chamber

Answer

Cells in Anterior chamber

Answer

Edema of Cornea

Question 4

Which of the following can cause uveitis?

Accepted Answer

Staphylococcus

Answer

Tuberculosis

Answer

Streptococcus

Answer

Klebsiella

Question 5

Vogt Koyanagi–Harada (VKH) syndrome is characterized by which of the following types of uveitis?

Accepted Answer

Chronic granulomatous uveitis

Answer

Chronic non-granulomatous uveitis

Answer

Acute purulent uveitis

Answer

None of the above

Question 6

What is the most common cause of endophthalmitis in patients with AIDS?

Accepted Answer

Candida

Answer

Rhizopus

Answer

Aspergillus

Answer

Cryptococcus

Question 7

Granulomatous uveitis is seen in all of the following conditions except?

Accepted Answer

Uveitis associated with ankylosing spondylitis

Answer

Sympathetic ophthalmitis

Answer

Tubercular uveitis

Answer

Uveitis associated with sarcoidosis

Question 8

Which of the following is NOT true about Behçet's disease?

Accepted Answer

It generally has a good visual prognosis.

Answer

It is characterized by the presence of aphthous ulceration, genital ulceration, and uveitis.

Answer

Uveitis is typically bilateral, acute, recurrent iridocyclitis with hypopyon.

Answer

Chlorambucil can be used as a treatment to control the disease.

Question 9

All of the following are histopathologic features of sympathetic ophthalmia except?

Accepted Answer

Necrosis

Answer

Giant cells located within the choroid

Answer

T lymphocytes

Answer

Eosinophils

Question 10

What is a common ocular manifestation in Trisomy 13?

Accepted Answer

Bilateral microphthalmos

Answer

Capillary hemangioma

Answer

Neurofibroma

Answer

Dermoid Cyst

Ocular Manifestations of Systemic Disorders — MCQs

Ocular Manifestations of Systemic Disorders — MCQs

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