Diseases of the Retina Practice Questions

Q: Which instrument is used for fundus examination?

Fundus Examination. **Explanation:** The **Ophthalmoscope** (Direct or Indirect) is the primary instrument used for **Fundus Examination**. The "fundus" refers to the interior surface of the eye opposite the lens, including the retina, optic disc, macula, and posterior pole. * **Why Option B is Correct:** Funduscopy (Ophthalmoscopy) allows the clinician to visualize the posterior segment of the eye. It is essential for diagnosing retinal detachments, diabetic retinopathy, and hypertensive changes. * **Why Option A is Incorrect:** While the optic disc is *part* of the fundus, "Fundus Examination" is the more comprehensive and clinically accurate term for the procedure. * **Why Option C is Incorrect:** Corneal examination is primarily performed using a **Slit-lamp biomicroscope** or a **Placido disc** (for curvature). * **Why Option D is Incorrect:** Examination of the angle of the anterior chamber requires a specialized lens called a **Goniolens** (Gonioscopy), as the angle cannot be seen directly due to total internal reflection. **High-Yield Clinical Pearls for NEET-PG:** 1. **Direct Ophthalmoscope:** Provides a virtual, erect image with high magnification (15x) but a small field of view (approx. 10°). 2. **Indirect Ophthalmoscope:** Provides a real, inverted image with lower magnification (approx. 3x-5x) but a wider field of view (approx. 37°). It allows for **stereopsis** (3D view) and examination of the peripheral retina up to the ora serrata. 3. **Gold Standard:** For detailed macular evaluation, a **90D or 78D non-contact lens** used with a slit lamp is preferred.

Q: A 3-year-old boy presents with a white reflex in the pupillary area and mild divergent squint in the right eye, noticed by family members for 4 months. Examination reveals leukocoria of the right eye with a dilated pupil non-reactive to light, secondary glaucoma, corneal edema, pseudohypopyon, and proptosis. USG B-scan, examination under anesthesia, and MRI of the region were performed. Which of the following is the most common histopathological finding seen in this condition?

Retinoblastoma. ### Explanation **1. Why Retinoblastoma is Correct:** The clinical presentation is a classic description of **Retinoblastoma (RB)**, the most common intraocular malignancy of childhood. The "white reflex" (**Leukocoria**) is the most common presenting sign (60%), followed by **strabismus**. The presence of **secondary glaucoma** (due to anterior displacement of the iris-lens diaphragm or neovascularization), **pseudohypopyon** (tumor cells settling in the anterior chamber), and **proptosis** (indicating extraocular extension) are advanced features of RB. MRI and USG B-scan are the gold standards for detecting **calcification**, a hallmark of this tumor. **2. Why Other Options are Incorrect:** * **Congenital Cataract:** While it is the most common cause of leukocoria, it does not present with pseudohypopyon, secondary glaucoma, or proptosis. * **Coats' Disease:** A vascular anomaly (telangiectatic vessels) leading to exudative retinal detachment. It usually affects slightly older boys (6–8 years) and lacks the calcification and aggressive extraocular spread seen here. * **PHPV (Persistent Fetal Vasculature):** Usually presents at birth in a **microphthalmic** eye. While it causes leukocoria, it does not typically present with proptosis or pseudohypopyon. **3. Clinical Pearls for NEET-PG:** * **Most common sign:** Leukocoria; **Second most common:** Strabismus. * **Pathognomonic Histology:** **Flexner-Wintersteiner rosettes** (specific for RB); Homer-Wright rosettes (non-specific, also seen in neuroblastoma). * **Calcification:** Seen in 90% of cases (detected as "high-echo" spots on B-scan). * **Inheritance:** Mutation in the **RB1 gene** on **Chromosome 13q14**. * **Pseudohypopyon:** In a child, always rule out Retinoblastoma before diagnosing uveitis. * **Contraindication:** **Fine Needle Aspiration Biopsy (FNAB)** is strictly contraindicated in suspected RB due to the risk of extraocular tumor seeding.

Q: The Amsler grid test is primarily used for the diagnosis of which condition?

Age-related macular degeneration. **Explanation:** The **Amsler Grid** is a simple, non-invasive clinical tool used to monitor the central **10 degrees** of the visual field. It is primarily used to detect and monitor diseases affecting the **macula**. **Why B is Correct:** In **Age-related Macular Degeneration (ARMD)**, particularly the "wet" (exudative) type, subretinal neovascularization or macular edema causes the retinal layers to become distorted. When a patient looks at the straight lines of the Amsler grid, this distortion results in **metamorphopsia** (wavy lines) or **scotomas** (missing areas/blind spots). It is the gold standard for home monitoring in ARMD patients to detect early progression. **Why the other options are incorrect:** * **A. Retinitis Pigmentosa:** This condition primarily affects the peripheral retina (rods), leading to "tunnel vision" and night blindness. The Amsler grid, which tests the central field, is not the primary diagnostic tool. * **C. Optic Atrophy:** This involves damage to the optic nerve. While it can cause central scotomas, it is typically diagnosed via fundoscopy (pale disc) and formal automated perimetry (e.g., Humphrey Visual Field). * **D. Choroiditis:** While posterior uveitis can affect the macula, the Amsler grid is not the specific diagnostic test for inflammation of the choroid. **NEET-PG High-Yield Pearls:** * **Testing Distance:** The grid is held at a normal reading distance (**30 cm**) with near-correction (reading glasses) on. * **Metamorphopsia:** This is the hallmark symptom detected by the Amsler grid. * **Micropsia vs. Macropsia:** Edema pushing photoreceptors apart causes *micropsia*; crowding of receptors causes *macropsia*. * **Other uses:** It can also be used to monitor **Central Serous Chorioretinopathy (CSCR)** and **Cystoid Macular Edema (CME)**.

Q: All of the following are criteria for high risk of developing chloroquine retinopathy except?

Total dose >480g. **Explanation:** Chloroquine (CQ) and Hydroxychloroquine (HCQ) can cause irreversible maculopathy characterized by a "Bull’s eye" appearance. The risk criteria for toxicity have evolved, moving away from cumulative dose toward daily dose and duration. **Why Option C is the correct answer:** According to the **Revised AAO (American Academy of Ophthalmology) Guidelines**, the **cumulative dose** is no longer considered the primary predictor of toxicity. For Chloroquine, the threshold for high risk is a daily dose exceeding **2.3 mg/kg** of real body weight. The older criterion of a total dose >460–480g is now considered outdated in clinical practice compared to duration and weight-based dosing. **Analysis of other options:** * **A. Duration of use > 5 years:** This is a major risk factor. Toxicity is rare before 5 years of treatment; however, the risk increases significantly (up to 1% after 5-10 years and 20% after 20 years). * **B. Daily dose >3mg/kg:** For Chloroquine, a daily dose of **>2.3 mg/kg** (often rounded to >3mg/kg in older texts) or a flat dose of **>250mg/day** is a significant risk factor. (For HCQ, the limit is >5.0 mg/kg). * **D. Presence of renal failure:** Both drugs are cleared renally. Decreased GFR increases the serum half-life, significantly raising the risk of retinal accumulation and toxicity. **High-Yield NEET-PG Pearls:** * **Earliest Sign:** Fine granular pigmentary changes in the macula. * **Classic Sign:** Bull’s eye maculopathy (sparing of the foveal center). * **Screening:** Baseline exam followed by annual screening after 5 years. * **Gold Standard Tests:** 10-2 Visual Fields (VF) and Spectral Domain OCT (SD-OCT). Look for the **"Flying Saucer Sign"** on OCT. * **Note:** Toxicity can progress even after stopping the drug due to its long half-life.

Q: Which of the following is NOT an AR disorder?

Butterfly macular dystrophy. **Explanation:** The correct answer is **Butterfly macular dystrophy**, which is an **Autosomal Dominant (AD)** disorder. It belongs to a group of conditions known as **Pattern Dystrophies**, most commonly caused by mutations in the **PRPH2 gene** (Peripherin-2). Clinically, it is characterized by pigment deposition in the macula resembling the wings of a butterfly, usually presenting with a mild, late-onset reduction in vision. **Analysis of other options:** * **Gyrate Atrophy:** This is an **Autosomal Recessive (AR)** metabolic disorder caused by a deficiency of the enzyme ornithine aminotransferase (OAT). It leads to high plasma ornithine levels and characteristic "punched-out" chorioretinal atrophy. * **Goldmann-Favre Syndrome:** This is an **AR** condition characterized by early-onset night blindness, retinoschisis (foveal and peripheral), and pigmentary degeneration. It is associated with mutations in the **NR2E3 gene**. * **Bardet-Biedl Syndrome:** This is a classic **AR** ciliopathy. It presents with a pentad of features: pigmentary retinopathy, polydactyly, obesity, hypogonadism, and renal anomalies. **High-Yield Clinical Pearls for NEET-PG:** 1. **PRPH2 Gene:** Remember this gene for multiple pattern dystrophies (Butterfly, Reticular, Adult-onset vitelliform). 2. **Gyrate Atrophy Treatment:** Managed with a **Vitamin B6 (Pyridoxine)** supplement and a low-protein (low-arginine) diet. 3. **Inheritance Patterns:** Most metabolic retinal disorders are AR, while many structural/pattern dystrophies are AD. 4. **Stargardt Disease:** The most common AR macular dystrophy (ABCA4 mutation).

Q: Which of the following conditions has autosomal dominant inheritance?

Best disease. **Explanation:** The correct answer is **Best disease** (Best Vitelliform Macular Dystrophy). This condition is characterized by an **Autosomal Dominant (AD)** inheritance pattern, caused by a mutation in the **BEST1 gene** on chromosome 11q13, which encodes the protein bestrophin-1. This leads to an accumulation of lipofuscin within the retinal pigment epithelium (RPE), resulting in the classic "egg-yolk" appearance on fundoscopy. **Analysis of Incorrect Options:** * **Gyrate Atrophy:** This is an **Autosomal Recessive (AR)** metabolic disorder caused by a deficiency of the enzyme ornithine aminotransferase, leading to hyperornithinemia and progressive chorioretinal atrophy. * **Laurence-Moon-Biedl (Bardet-Biedl) Syndrome:** This is an **AR** ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability. * **Bassen-Kornzweig Disease (Abetalipoproteinemia):** This is an **AR** condition involving a deficiency of microsomal triglyceride transfer protein (MTP), leading to malabsorption of fat-soluble vitamins (A, E, K) and atypical retinitis pigmentosa. **High-Yield Clinical Pearls for NEET-PG:** 1. **EOG vs. ERG:** In Best disease, the **Electro-oculogram (EOG) is abnormal** (Arden ratio < 1.5) even in the carrier state, while the **Electro-retinogram (ERG) remains normal**. 2. **Stages:** It progresses from Pre-vitelliform → Vitelliform (egg-yolk) → Pseudohypopyon → Vitelliruptive (scrambled egg) → Atrophic/Cicatricial. 3. **Memory Aid:** Most retinal dystrophies are AR, but **Best disease** and **Doyne Honeycomb dystrophy** are notable AD exceptions.

Q: All are macular function tests except?

Scanning laser polarimetry. **Explanation:** The macula is responsible for central vision, high-resolution visual acuity, and color perception. Macular function tests are clinical investigations used to assess the functional integrity of the macula, especially when the media (cornea or lens) is opaque. **Why Scanning Laser Polarimetry (SLP) is the correct answer:** Scanning Laser Polarimetry (e.g., GDx) is not a functional test but a **structural imaging modality**. It uses polarized light to measure the thickness of the **Retinal Nerve Fiber Layer (RNFL)** based on the principle of birefringence. It is primarily used for the early diagnosis and monitoring of **Glaucoma**, not for assessing macular function. **Analysis of Incorrect Options:** * **Visual Acuity:** This is the most basic test of macular function, assessing the fovea's ability to resolve fine detail. * **Colour Vision:** The cones are densely packed in the fovea centralis. Testing color vision (e.g., Ishihara charts) is a sensitive indicator of macular health. * **Entoptic Phenomenon:** These are visual perceptions caused by the eye's own internal structures. Examples include **Blue Field Entoptoscopy** (to visualize macular capillary circulation) and the **Maxwell spot**, both used to assess macular viability behind cataracts. **Clinical Pearls for NEET-PG:** * **Other Macular Function Tests:** Amsler Grid (detects metamorphopsia), Photostress test (recovery time >50-60s is abnormal), Contrast sensitivity, and Potential Acuity Meter (PAM). * **Electrophysiology:** The **mfERG (Multifocal Electroretinogram)** is the specific electrophysiological test for macular function, whereas the standard ERG reflects global retinal activity. * **Watzke-Allen Test:** A clinical test using a slit lamp beam to confirm a Full-Thickness Macular Hole (FTMH).

Question 1

Which instrument is used for fundus examination?

Accepted Answer

Fundus Examination

Answer

Examination of the optic disc

Answer

Corneal Examination

Answer

Examination of the Angle of Anterior Chamber

Question 2

A 3-year-old boy presents with a white reflex in the pupillary area and mild divergent squint in the right eye, noticed by family members for 4 months. Examination reveals leukocoria of the right eye with a dilated pupil non-reactive to light, secondary glaucoma, corneal edema, pseudohypopyon, and proptosis. USG B-scan, examination under anesthesia, and MRI of the region were performed. Which of the following is the most common histopathological finding seen in this condition?

Accepted Answer

Retinoblastoma

Answer

Congenital cataract

Answer

Coats' disease

Answer

Persistent hyperplastic primary vitreous (PHPV)

Question 3

Hyperoxygenation of premature infants may result in which of the following conditions?

Accepted Answer

Retrolental fibroplasia

Answer

Congenital glaucoma

Answer

Microphthalmia

Answer

Coloboma

Question 4

The Amsler grid test is primarily used for the diagnosis of which condition?

Accepted Answer

Age-related macular degeneration

Answer

Retinitis pigmentosa

Answer

Optic atrophy

Answer

Choroiditis

Question 5

Which of the following is not a feature of hypertensive retinopathy?

Accepted Answer

Neovascularization

Answer

Silver wiring of arterioles

Answer

Bonnet sign

Answer

Disc edema

Question 6

All of the following statements are true about Juxtafoveal Retinal Telangiectasias, EXCEPT?

Accepted Answer

Associated with peripheral telangiectasias

Answer

Variant of Coat's disease

Answer

Associated with telangiectasias in the macula

Answer

Associated with structurally abnormal retinal vessels

Question 7

All of the following are criteria for high risk of developing chloroquine retinopathy except?

Accepted Answer

Total dose >480g

Answer

Duration of use > 5 years

Answer

Daily dose of >250mg or >3mg/kg

Answer

Presence of renal failure

Question 8

Which of the following is NOT an AR disorder?

Accepted Answer

Butterfly macular dystrophy

Answer

Gyrate atrophy

Answer

Goldmann syndrome

Answer

Bardet-Biedl syndrome

Question 9

Which of the following conditions has autosomal dominant inheritance?

Accepted Answer

Best disease

Answer

Gyrate atrophy

Answer

Laurence Moon Biedl syndrome

Answer

Bassen-Kornzweig disease

Question 10

All are macular function tests except?

Accepted Answer

Scanning laser polarimetry

Answer

Colour Vision

Answer

Visual acuity

Answer

Entoptic phenomenon

Diseases of the Retina — MCQs

Diseases of the Retina — MCQs

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