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.

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

Ocular Manifestations of Systemic Disorders — MCQs

Ocular Manifestations of Systemic Disorders — MCQs

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