Diseases of the Retina Practice Questions

Q: Schaffer's sign is seen in which condition?

Retinal detachment. **Explanation:** **Schaffer’s Sign** (also known as the "Tobacco Dust" sign) refers to the presence of fine, pigment granules in the anterior vitreous. It is a pathognomonic clinical finding for a **Rhegmatogenous Retinal Detachment (RRD)** or a full-thickness retinal tear. **Why it occurs:** When a retinal tear occurs, the Retinal Pigment Epithelium (RPE) cells are released from the subretinal space into the vitreous cavity. On slit-lamp biomicroscopy, these cells appear as brownish-red dust-like particles suspended in the vitreous. Its presence is a high-yield clinical marker, as it strongly suggests a retinal break even if the break is not immediately visible. **Analysis of Incorrect Options:** * **Retinitis Pigmentosa:** Characterized by "bone-spicule" pigmentation in the mid-peripheral retina and arteriolar attenuation, not free-floating vitreous pigment. * **CRVO:** Presents with a "blood and thunder" fundus (diffuse hemorrhages, dilated tortuous veins, and disc edema). * **CRAO:** Characterized by a "cherry-red spot" at the fovea and a pale, edematous retina due to ischemia. **Clinical Pearls for NEET-PG:** * **Tobacco Dust Sign:** Always associated with RPE cell release (Retinal tear/detachment). * **Weiss Ring:** A ring-shaped opacity indicating a Posterior Vitreous Detachment (PVD), which often precedes Schaffer's sign. * **Management:** A patient with new-onset flashes (photopsia), floaters, and a positive Schaffer’s sign requires urgent surgical intervention (e.g., Scleral buckling or Vitrectomy) to prevent permanent vision loss.

Q: Which of the following is NOT a sign of diabetic retinopathy?

Choroidal neovascularization. **Explanation:** The correct answer is **D. Choroidal neovascularization (CNV)**. Diabetic Retinopathy (DR) is primarily a **microangiopathy** affecting the retinal precapillary arterioles, capillaries, and venules. The hallmark of DR is retinal ischemia and increased vascular permeability. **Choroidal Neovascularization (CNV)**, however, involves the growth of new vessels from the choroid through Bruch’s membrane into the subretinal space. This is the classic feature of **"Wet" Age-Related Macular Degeneration (ARMD)**, not diabetic retinopathy. **Analysis of Incorrect Options:** * **A. Microaneurysms:** These are the **earliest clinical sign** of DR. They represent focal out-pouchings of retinal capillaries due to pericyte loss. * **B. Cotton wool spots:** Also known as soft exudates, these represent focal areas of retinal ischemia (infarction of the nerve fiber layer) and are a key feature of Pre-proliferative Diabetic Retinopathy (PPDR). * **C. Hard exudates:** These are yellowish deposits of lipids and lipoproteins in the outer plexiform layer, resulting from chronic vascular leakage (increased permeability). **High-Yield Clinical Pearls for NEET-PG:** * **Earliest Pathological Change:** Loss of pericytes and basement membrane thickening. * **Earliest Clinical Sign:** Microaneurysms (seen as tiny red dots). * **Proliferative DR (PDR):** Characterized by **Neovascularization elsewhere (NVE)** or **at the Disc (NVD)**. Note that these are *retinal* new vessels, unlike the *choroidal* vessels in CNV. * **Investigation of Choice:** Optical Coherence Tomography (OCT) for macular edema; Fundus Fluorescein Angiography (FFA) to detect ischemia or neovascularization.

Q: A 3-year-old male presents with sudden onset of visual loss in the left eye. Ophthalmological examination reveals strabismus and a white pupillary reflex. Fundus findings are as shown below. What is your diagnosis?

Coats disease. ***Coats disease*** - Classic presentation in **young males** with **unilateral leukocoria** and **strabismus**, along with **telangiectatic retinal vessels** and **subretinal exudates**. - Fundus shows characteristic **yellowish cholesterol deposits** and **vascular abnormalities** without calcification, distinguishing it from retinoblastoma. *Retinoblastoma* - Most common **intraocular malignancy** in children but typically shows **calcification** on imaging and **white chalky appearance** on fundus. - Would expect **family history** in hereditary cases and **bilateral involvement** in 40% of cases, not fitting this unilateral presentation. *Sickle cell retinopathy* - Requires underlying **sickle cell disease** with characteristic **sea fan neovascularization** and **arteriovenous anastomoses**. - Typically affects **older children and adults** with known hemoglobinopathy, not a 3-year-old with acute onset. *Toxoplasmosis* - Presents with **chorioretinitis** showing **fluffy white retinal lesions** with surrounding inflammation and **vitritis**. - Usually associated with **maternal infection** during pregnancy and shows **satellite lesions** near old scars, not the exudative pattern seen here.

Q: Retinitis pigmentosa inheritance is by which mode?

Autosomal dominant. **Explanation:** Retinitis Pigmentosa (RP) is a genetically heterogeneous group of rod-cone dystrophies. While it exhibits multiple patterns of inheritance, **Autosomal Dominant (AD)** is the correct answer in the context of most standard examinations when asked for a single mode, as it represents the most common inheritance pattern in many clinical cohorts and generally carries the best visual prognosis. * **Why Autosomal Dominant is correct:** It is the most frequent mode of inheritance. The most common gene mutation associated with AD-RP is the **Rhodopsin (RHO) gene**. Patients with AD-RP typically have a later onset and a slower rate of progression compared to other forms. * **Why others are incorrect:** * **Autosomal Recessive (AR):** This is also very common (especially in consanguineous populations) and often presents with intermediate severity. * **X-linked Recessive (XLR):** This is the **most severe form**, characterized by early-onset legal blindness (by age 30-40). It is caused primarily by mutations in the *RPGR* gene. * **Digenic Inheritance:** This is a rare form involving mutations in two different genes (e.g., *ROM1* and *Peripherin/RDS*) simultaneously. **High-Yield Clinical Pearls for NEET-PG:** * **Classic Triad:** Bony spicule pigmentation (perivascular), Arteriolar attenuation (narrowing), and Waxy pallor of the optic disc. * **Earliest Symptom:** Nyctalopia (Night blindness) due to rod dysfunction. * **Earliest Sign:** Scanty pigmentary changes in the mid-periphery. * **Gold Standard Investigation:** Electroretinogram (ERG) – shows a "subnormal" or "extinguished" (flat) scotopic response early in the disease. * **Associated Conditions:** Usher Syndrome (RP + Sensorineural hearing loss) and Laurence-Moon-Biedl Syndrome (RP + Obesity + Polydactyly + Hypogonadism + Intellectual disability).

Q: Regarding retinoblastoma, all of the following are true, EXCEPT?

Approximately 25% of cases are bilateral. **Explanation:** The correct answer is **C** because the statement is factually incorrect. In Retinoblastoma, approximately **30–40% of cases are bilateral**, while 60–70% are unilateral. Bilateral cases are almost always heritable and associated with a germline mutation. **Analysis of Options:** * **A. Associated with 13q14 deletion:** This is true. Retinoblastoma is caused by a mutation or deletion in the **RB1 gene**, located on the long arm of chromosome 13 at position q14. * **B. Inheritance is autosomal dominant:** This is true for the heritable form. While the cellular mechanism is recessive (requiring "two hits"), the inheritance pattern in families follows an autosomal dominant trait with high penetrance (90%). * **D. Approximately 40% of cases are heritable:** This is true. About 40% of patients have a germline mutation (heritable), which predisposes them to bilateral involvement and secondary non-ocular tumors (like osteosarcoma). The remaining 60% are sporadic/somatic. **Clinical Pearls for NEET-PG:** * **Knudson’s Two-Hit Hypothesis:** Explains the occurrence of heritable (1st hit germline, 2nd hit somatic) vs. sporadic (both hits somatic) cases. * **Most Common Presentation:** Leukocoria (white pupillary reflex), followed by strabismus. * **Pathology:** Look for **Flexner-Wintersteiner rosettes** (highly specific) and Homer-Wright rosettes. * **Calcification:** Dystrophic calcification is a hallmark feature seen on B-scan USG or CT scan (helps differentiate from Coats' disease). * **Trilateral Retinoblastoma:** Bilateral retinoblastoma associated with a pinealoblastoma.

Q: Which of the following is associated with Retinoblastoma?

Intraorbital calcification. **Explanation:** **Retinoblastoma** is the most common primary intraocular malignancy of childhood. The hallmark diagnostic feature of this tumor is **intraorbital calcification**, which occurs in approximately 90–95% of cases. 1. **Why Intraorbital Calcification is Correct:** The rapid proliferation of tumor cells often outstrips their blood supply, leading to coagulative necrosis. Within these necrotic areas, calcium salts are deposited (dystrophic calcification). On imaging (CT scan or Ultrasound B-scan), this appears as high-density or hyperechoic spots within the globe. In a child under 3 years old, intraorbital calcification is considered pathognomonic for Retinoblastoma until proven otherwise. 2. **Why Other Options are Incorrect:** * **Intracranial calcification:** While Retinoblastoma can spread to the brain or occur concurrently with a pineal tumor (Trilateral Retinoblastoma), calcification is primarily localized within the globe, not the intracranial space. * **Optic canal widening:** This is typically associated with **Optic Nerve Gliomas** (often seen in Neurofibromatosis Type 1), where the tumor grows along the nerve through the canal. * **Hydrocephalus:** This is a non-specific sign of increased intracranial pressure and is not a primary diagnostic feature of Retinoblastoma. **High-Yield Clinical Pearls for NEET-PG:** * **Most common presentation:** Leukocoria (White pupillary reflex), followed by strabismus. * **Genetics:** Mutation in the **RB1 gene** on Chromosome **13q14**. * **Histopathology:** Look for **Flexner-Wintersteiner rosettes** (highly specific) and Homer-Wright rosettes. * **Imaging Modality of Choice:** **MRI** is preferred to evaluate optic nerve involvement and intracranial extension (Trilateral RB), but **CT** is superior for detecting calcification. * **Trilateral Retinoblastoma:** Bilateral RB associated with a pineal gland tumor (Pineoblastoma).

Q: Which of the following is NOT a prognostic factor in choroidal melanoma?

Presence of retinal detachment. **Explanation:** In Choroidal Melanoma, prognosis is primarily determined by the tumor's potential for metastasis (most commonly to the liver). **Why Retinal Detachment is the correct answer:** While an exudative (serous) retinal detachment is a very common **clinical presentation** of choroidal melanoma, it is **not a prognostic factor** for survival or metastasis. It occurs due to fluid leakage from the tumor vessels into the subretinal space but does not reflect the biological aggressiveness or the stage of the malignancy. **Analysis of Incorrect Options (Prognostic Factors):** * **Size of Tumor (Option B):** This is the most important clinical prognostic factor. Larger tumors (measured by basal diameter and height) have a significantly higher risk of metastasis. * **Cytology (Option C):** The **Callender Classification** is used here. **Epithelioid cells** have the worst prognosis, while **Spindle A** cells have the best. Presence of "closed vascular loops" on histopathology also indicates a poor prognosis. * **Extraocular Extension (Option D):** Extension of the tumor through the sclera into the orbit significantly worsens the prognosis and increases the risk of systemic spread. **High-Yield Clinical Pearls for NEET-PG:** * **Most common primary intraocular malignancy in adults:** Choroidal Melanoma. * **Most common site of metastasis:** Liver (90% of cases). * **Genetic Marker:** Monosomy 3 is the most significant genetic predictor of poor prognosis (high metastatic risk). * **Investigation of Choice:** B-Scan Ultrasonography (shows "Hollow" internal reflectivity and "Choroidal excavation"). * **Treatment:** Plaque radiotherapy (Brachytherapy) is preferred for small/medium tumors; Enucleation is reserved for large tumors or those involving the optic nerve.

Q: Which of the following is NOT a cause of exudative retinal detachment?

Dysthyroid eye disease. Exudative (Serous) Retinal Detachment (ERD) occurs when fluid accumulates in the subretinal space due to damage to the Blood-Retinal Barrier (BRB) or the Retinal Pigment Epithelium (RPE), without the presence of a retinal break or vitreoretinal traction. **Why Dysthyroid Eye Disease (Graves' Ophthalmopathy) is the correct answer:** Dysthyroid eye disease primarily affects the extraocular muscles and orbital fat through autoimmune inflammation and deposition of glycosaminoglycans [1]. While it can cause proptosis, exposure keratopathy, and compressive optic neuropathy, it **does not** typically involve the subretinal space or cause exudative retinal detachment. **Analysis of Incorrect Options:** * **Scleritis:** Posterior scleritis is a classic cause of ERD. Intense inflammation of the sclera spreads to the choroid, leading to increased vascular permeability and fluid leakage into the subretinal space. * **Toxemia of Pregnancy (Preeclampsia/Eclampsia):** Severe systemic hypertension and vasospasm lead to choroidal ischemia and dysfunction of the RPE, causing bilateral serous retinal detachments in approximately 1% of patients with severe preeclampsia. * **Central Serous Retinopathy (CSR):** CSR is characterized by a localized serous detachment of the neurosensory retina at the macula, caused by idiopathic leakage from the choriocapillaris through a defect in the RPE. **NEET-PG High-Yield Pearls:** * **Most common cause of ERD:** Systemic hypertension/Toxemia. * **Most common intraocular tumor causing ERD:** Malignant Melanoma of the choroid. * **Vogt-Koyanagi-Harada (VKH) Syndrome:** A multisystem autoimmune disease and a frequent "favorite" exam topic for causing bilateral exudative RD. * **Shifting Fluid Sign:** The hallmark clinical sign of exudative RD, where subretinal fluid moves to the most dependent part of the retina with changes in head position.

Q: Sudden loss of vision in a patient with diabetic retinopathy is most commonly due to what condition?

Vitreous hemorrhage. **Explanation:** In the context of Diabetic Retinopathy (DR), the keyword **"sudden"** is the clinical differentiator. **1. Why Vitreous Hemorrhage is correct:** Proliferative Diabetic Retinopathy (PDR) is characterized by **neovascularization** (growth of fragile new blood vessels) due to retinal ischemia. These vessels lack structural integrity and easily rupture, bleeding into the vitreous cavity. This results in a sudden, painless loss of vision or the appearance of "floaters" and "cobwebs." It is the most common cause of acute vision loss in diabetic patients. **2. Why the other options are incorrect:** * **Cataract:** While diabetics are prone to "Snowflake cataracts" or early-onset senile cataracts, the vision loss is **gradual and progressive**, not sudden. * **Glaucoma:** Neovascular glaucoma can occur in PDR, but it usually presents with a painful red eye and gradual visual field loss rather than sudden total loss of vision. * **Papilledema:** This refers to optic disc swelling due to increased intracranial pressure. While it can occur in malignant hypertension (sometimes seen in diabetic renal patients), it is not a primary complication of diabetic retinopathy itself. **Clinical Pearls for NEET-PG:** * **Most common cause of gradual vision loss in DR:** Diabetic Macular Edema (DME). * **Most common cause of sudden vision loss in DR:** Vitreous Hemorrhage. * **Other causes of sudden vision loss in DR:** Tractional Retinal Detachment (TRD) and Central Retinal Vein Occlusion (CRVO). * **Investigation of choice for Vitreous Hemorrhage (when the fundus is not visible):** B-Scan Ultrasonography (to rule out underlying retinal detachment).

Question 1

Schaffer's sign is seen in which condition?

Accepted Answer

Retinal detachment

Answer

Retinitis pigmentosa

Answer

Central retinal vein occlusion (CRVO)

Answer

Central retinal artery occlusion (CRAO)

Question 2

Which of the following is NOT a sign of diabetic retinopathy?

Accepted Answer

Choroidal neovascularization

Answer

Microaneurysms

Answer

Cotton wool spots

Answer

Hard exudates

Question 3

A 3-year-old male presents with sudden onset of visual loss in the left eye. Ophthalmological examination reveals strabismus and a white pupillary reflex. Fundus findings are as shown below. What is your diagnosis?

Accepted Answer

Coats disease

Answer

Retinoblastoma

Answer

Sickle cell retinopathy

Answer

Toxoplasmosis

Question 4

Retinitis pigmentosa inheritance is by which mode?

Accepted Answer

Autosomal dominant

Answer

X linked recessive

Answer

Autosomal recessive

Answer

Digenic inheritance

Question 5

Regarding retinoblastoma, all of the following are true, EXCEPT?

Accepted Answer

Approximately 25% of cases are bilateral

Answer

Associated with 13q14 deletion

Answer

Inheritance is autosomal dominant

Answer

Approximately 40% of cases are heritable

Question 6

Which of the following is associated with Retinoblastoma?

Accepted Answer

Intraorbital calcification

Answer

Intracranial calcification

Answer

Optic canal widening

Answer

Hydrocephalus

Question 7

Which of the following is NOT a prognostic factor in choroidal melanoma?

Accepted Answer

Presence of retinal detachment

Answer

Size of tumor

Answer

Cytology of tumor cells

Answer

Presence of extraocular extension

Question 8

Which of the following is NOT a cause of exudative retinal detachment?

Accepted Answer

Dysthyroid eye disease

Answer

Scleritis

Answer

Toxemia of pregnancy

Answer

Central serous retinopathy

Question 9

Sudden loss of vision in a patient with diabetic retinopathy is most commonly due to what condition?

Accepted Answer

Vitreous hemorrhage

Answer

Cataract

Answer

Glaucoma

Answer

Papilledema

Question 10

All of the following are true for acquired cytomegalic inclusion disease except?

Accepted Answer

The infection is acquired from the infected cervix of the mother during sexual intercourse

Answer

It occurs only in immunosuppressed patients

Answer

Typical lesion is acute necrotizing retinitis

Answer

Exudative retinal detachment may occur

Diseases of the Retina — MCQs

Diseases of the Retina — MCQs

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