Diseases of the Retina Practice Questions

Q: Which of the following types of macular dystrophy is associated with the typical egg yolk lesion located in the central macula?

Best disease. **Explanation:** **Best Disease (Vitelliform Macular Dystrophy)** is the correct answer. It is an autosomal dominant condition caused by a mutation in the **BEST1 gene** on chromosome 11, which encodes the protein **bestrophin-1**. This protein acts as a chloride channel in the Retinal Pigment Epithelium (RPE). Dysfunction leads to an abnormal accumulation of **lipofuscin** between the RPE and Bruch’s membrane, resulting in the classic **"egg-yolk" (vitelliform) lesion** at the macula. A hallmark diagnostic feature is a **normal Electroretinogram (ERG)** but an **abnormal Electro-oculogram (EOG)** with an Arden index < 1.5. **Why other options are incorrect:** * **Stargardt Disease:** The most common macular dystrophy, characterized by a **"beaten bronze"** appearance and peripheral yellow-white **pisciform (fish-shaped) flecks**. It shows a "dark choroid" sign on Fundus Fluorescein Angiography (FFA). * **Cone-Rod Dystrophies:** These typically present with a **"bull’s eye maculopathy"** (similar to chloroquine toxicity) and result in early loss of color vision and central visual acuity. * **X-Linked Juvenile Retinoschisis:** Characterized by a **spoke-wheel pattern** of cystoid spaces in the macula and splitting of the retinal layers (usually the nerve fiber layer). **High-Yield Clinical Pearls for NEET-PG:** * **Stages of Best Disease:** Pre-vitelliform → Vitelliform (Egg-yolk) → Pseudohypopyon (partial absorption) → Vitelliruptive (Scrambled egg) → Atrophic/Cicatricial. * **EOG vs. ERG:** Best disease is the classic example where EOG is subnormal despite a normal ERG. * **Inheritance:** Best disease is Autosomal Dominant; Stargardt is usually Autosomal Recessive.

Q: Which of the following is true about inverse Retinitis pigmentosa?

X linked recessive inheritance. **Explanation:** **Inverse Retinitis Pigmentosa (RP)**, also known as Central Retinitis Pigmentosa, is a rare variant of the RP spectrum where the pigmentary changes and photoreceptor degeneration begin centrally rather than in the periphery. 1. **Why Option A is Correct:** While Retinitis Pigmentosa as a whole most commonly follows an Autosomal Recessive pattern, **Inverse RP** is specifically associated with an **X-linked recessive inheritance** pattern (linked to the *RPGR* gene). This makes it more common and typically more severe in males. 2. **Why the other options are incorrect:** * **Options B & C:** In Inverse RP, the characteristic "bony spicule" pigmentary changes are notably **absent**. Instead, patients present with macular atrophy, "bull’s eye" maculopathy, or fine granular pigmentary changes in the foveal/parafoveal region. Bony spicules are the hallmark of *classic* (peripheral) RP. * **Option D:** Progressive choroidal degeneration is the hallmark of **Choroideremia** or **Gyrate Atrophy**, not Inverse RP. Inverse RP primarily affects the cone-rod system starting at the macula. **Clinical Pearls for NEET-PG:** * **Symptom Triad:** Unlike classic RP (which starts with night blindness), Inverse RP presents with **early loss of central vision**, **color vision defects**, and **photophobia**. * **Visual Fields:** Shows a **central scotoma** with preserved peripheral fields (the "inverse" of the ring scotoma seen in classic RP). * **ERG Findings:** Shows a marked decrease in **photopic** (cone) responses early in the disease, while scotopic (rod) responses may remain normal until later stages. * **Differential Diagnosis:** Must be distinguished from Stargardt’s disease and Cone-Rod Dystrophy.

Q: Snowball opacities near the ora serrata are pathognomonic of which condition?

Pars planitis. **Explanation:** **Pars planitis** is a specific subset of intermediate uveitis characterized by idiopathic inflammation of the *pars plana* (the posterior part of the ciliary body). The hallmark clinical feature is the presence of **"snowball" opacities**—whitish, inflammatory aggregates of cells and exudates found in the vitreous, typically concentrated near the **ora serrata** and inferior vitreous base. When these exudates organize into a continuous plaque over the pars plana, they are termed **"snowbanks."** **Analysis of Incorrect Options:** * **Diabetic Retinopathy:** Characterized by microaneurysms, dot-blot hemorrhages, and neovascularization. It does not typically present with peripheral vitreous opacities. * **Anterior Choroiditis:** Primarily involves the choroid and overlying retina. While it can cause vitreous haze, it does not classically present with the localized "snowball" pattern at the ora serrata. * **Fungal Endophthalmitis:** While this can cause "string of pearls" or "fluffy" vitreous opacities, these are usually associated with severe pain, vision loss, and a history of trauma or systemic candidemia, rather than the chronic, localized presentation of pars planitis. **High-Yield Clinical Pearls for NEET-PG:** * **Demographics:** Typically affects children and young adults; often bilateral (80%). * **Symptoms:** Most common presenting symptom is **floaters** and blurred vision due to **Cystoid Macular Edema (CME)**, which is the most common cause of vision loss in these patients. * **Snowball vs. Snowbank:** "Snowballs" are floating clumps; "Snowbanks" are fixed exudates on the pars plana (usually inferiorly). * **Treatment:** Steroids (periocular or systemic) are the first line if vision is threatened by CME.

Q: Which of the following conditions is characterized by a 'headlight in fog' appearance in the retina?

Toxoplasmosis. **Explanation:** The **'headlight in fog'** appearance is a classic clinical sign of **Ocular Toxoplasmosis**. This phenomenon occurs due to an active, focal necrotizing retinochoroiditis (the "headlight") being viewed through a dense overlying vitreous inflammatory reaction or vitritis (the "fog"). Toxoplasmosis, caused by *Toxoplasma gondii*, is the most common cause of posterior uveitis worldwide. It typically presents as a creamy-white lesion adjacent to an old, pigmented chorioretinal scar. **Analysis of Incorrect Options:** * **B. CMV Retinitis:** Characterized by a **'pizza-pie'** or **'crumbled cheese and ketchup'** appearance. It features extensive retinal necrosis with prominent hemorrhages, typically seen in immunocompromised patients (e.g., HIV/AIDS with CD4 <50). * **C. Candida Retinitis:** Presents as multiple, fluffy, white **'cotton ball'** or **'string of pearls'** opacities in the vitreous. It is usually seen in patients on long-term IV antibiotics or parenteral nutrition. * **D. Toxocariasis:** Typically presents in children as a **posterior pole granuloma** or a peripheral granuloma with tractional bands leading to "dragged disc" appearance, rather than diffuse vitritis. **NEET-PG High-Yield Pearls:** * **Ocular Toxoplasmosis:** Most common cause of posterior uveitis; treated with the "Triple Therapy" (Pyrimethamine, Sulfadiazine, and Prednisolone). * **Kyrieleis Arteritis:** Accumulation of periarterial exudates seen specifically in Toxoplasmosis. * **Congenital Toxoplasmosis Triad:** Chorioretinitis, Hydrocephalus, and Intracranial calcifications.

Q: What is the following fundus finding shown below?

Retinitis Pigmentosa. ***Retinitis Pigmentosa*** - Characterized by the classic triad: **bone-spicule pigmentation** in the peripheral retina, **attenuated retinal vessels**, and **waxy pale optic disc**. - Progressive degeneration of **photoreceptors** (rods first, then cones) leading to night blindness and peripheral visual field defects. *Age related macular degeneration* - Affects the **macula** centrally with **drusen** deposits or **choroidal neovascularization**, not peripheral bone-spicule changes. - Presents with **central vision loss** and metamorphopsia, while peripheral vision remains intact. *Papilledema* - Shows **optic disc swelling** with **blurred disc margins** and **flame-shaped hemorrhages** due to increased intracranial pressure. - Associated with **venous engorgement** and **cotton wool spots**, but no bone-spicule pigmentation. *Papillitis* - Presents with **optic disc inflammation** and **hyperemia** with possible disc swelling in acute cases. - Often accompanied by **peripapillary hemorrhages** and **exudates**, but lacks the peripheral pigmentary changes of RP.

Q: A cherry red spot on the retina is seen in which of the following conditions?

Central retinal vein occlusion (CRVO). **Explanation** The presence of a **Cherry Red Spot** is a classic clinical finding in ophthalmology. It occurs when the underlying choroidal vasculature (which is red) becomes visible through the thin foveola, contrasted against a surrounding pale, edematous, or opaque retina. **Why the provided answer (B) is technically incorrect in standard clinical practice:** There appears to be a discrepancy in the provided key. In standard medical literature, **Central Retinal Artery Occlusion (CRAO)** is the classic vascular cause of a cherry red spot. In **Central Retinal Vein Occlusion (CRVO)**, the fundus typically shows a "blood and thunder" appearance (extensive hemorrhages and tortuous veins), **not** a cherry red spot. **Analysis of Options:** * **A. CRAO:** The most common vascular cause. Ischemia leads to retinal whitening/edema, making the fovea appear as a cherry red spot. * **C & D. Niemann-Pick & Tay-Sachs:** These are Lysosomal Storage Disorders (Sphingolipidoses). Ganglion cells in the retina (absent at the foveola) accumulate lipids, causing the surrounding retina to turn white, highlighting the red fovea. **Clinical Pearls for NEET-PG:** To remember the causes of a Cherry Red Spot, use the mnemonic **"OCHRE"** or **"Sandwich"**: 1. **S** - Sialidosis 2. **A** - **A**rtery Occlusion (CRAO) 3. **N** - **N**iemann-Pick Disease 4. **D** - **D**aiichi (Farber’s disease) 5. **W** - **W**olman’s disease 6. **I** - **I**nfantile Gaucher’s 7. **C** - **C**herry red spot (The finding itself) 8. **H** - **H**allervorden-Spatz / **H**urler’s / **H**exosaminidase deficiency (**Tay-Sachs**) **High-Yield Fact:** In CRAO, if a **cilioretinal artery** is present (a branch of the ciliary circulation), a small area of the retina may remain healthy and pink despite the surrounding ischemia.

Q: Floaters can be seen in all of the following conditions except:

Acute congestive glaucoma. **Explanation:** **Floaters** (muscae volitantes) are subjective perceptions of moving spots or shadows in the visual field. They are caused by opacities within the vitreous cavity that cast shadows on the retina. **Why Acute Congestive Glaucoma is the correct answer:** In **Acute Congestive Glaucoma** (Acute Angle Closure Glaucoma), the primary pathology is a sudden, severe rise in intraocular pressure (IOP). This leads to corneal edema, causing the patient to see **colored halos** around lights (due to the prismatic effect of the edematous cornea) and blurred vision. However, it does not typically involve the formation of vitreous opacities; therefore, floaters are not a clinical feature of this condition. **Analysis of Incorrect Options:** * **Vitreous Hemorrhage:** Bleeding into the vitreous (e.g., from proliferative diabetic retinopathy or trauma) introduces red blood cells that act as opacities, causing sudden-onset floaters. * **Retinal Detachment:** As the retina tears or detaches, pigment cells (Schaffer’s sign) or blood may be released into the vitreous. Patients often report a "shower of floaters" accompanied by photopsia (flashes of light). * **Uveitis:** In posterior uveitis or intermediate uveitis (pars planitis), inflammatory cells and debris (exudates) accumulate in the vitreous, leading to the perception of floaters. **High-Yield Clinical Pearls for NEET-PG:** * **Schaffer’s Sign:** The presence of "tobacco dust" (pigment cells) in the anterior vitreous is highly suggestive of a retinal tear. * **Weiss Ring:** A circular floater indicating a Posterior Vitreous Detachment (PVD) where the vitreous has detached from the optic disc. * **Differential Diagnosis:** Always distinguish between **Halos** (Glaucoma, Cataract) and **Floaters** (Vitreous pathology).

Question 1

Which of the following is true regarding intraocular retinoblastoma?

Accepted Answer

Intraocular Retinoblastoma Classification (ICRB) is presently being followed to decide the treatment modality.

Answer

60% are familial and the rest about 40% occur sporadically.

Answer

Leukocoria or yellowish-white pupillary reflex is the second commonest presenting feature.

Answer

All of the above

Question 2

Which of the following types of macular dystrophy is associated with the typical egg yolk lesion located in the central macula?

Accepted Answer

Best disease

Answer

Stargardt Disease

Answer

Cone Rod Dystrophies

Answer

X-Linked Juvenile Retinoschisis

Question 3

Which of the following is true about inverse Retinitis pigmentosa?

Accepted Answer

X linked recessive inheritance

Answer

Bony spicules in the fovea

Answer

Bony spicules in the parafovea

Answer

Progressive choroidal degeneration

Question 4

Which of the following statements is not true regarding rhegmatogenous retinal detachment?

Accepted Answer

It is caused by vitreous traction or fibrous bands within the vitreous.

Answer

Patients may present with symptoms such as floaters and flashes of light.

Answer

Surgical intervention is the primary modality of treatment.

Answer

The detachment can involve the entire retina, extending from the ora serrata to the optic disc.

Question 5

Snowball opacities near the ora serrata are pathognomonic of which condition?

Accepted Answer

Pars planitis

Answer

Diabetic retinopathy

Answer

Anterior choroiditis

Answer

Fungal endophthalmitis

Question 6

Which of the following conditions is characterized by a 'headlight in fog' appearance in the retina?

Accepted Answer

Toxoplasmosis

Answer

CMV retinitis

Answer

Candida retinitis

Answer

Toxocariasis

Question 7

What is the following fundus finding shown below?

Accepted Answer

Retinitis Pigmentosa

Answer

Age related macular degeneration

Answer

Papilledema

Answer

Papillitis

Question 8

A cherry red spot on the retina is seen in which of the following conditions?

Accepted Answer

Central retinal vein occlusion (CRVO)

Answer

Central retinal artery occlusion (CRAO)

Answer

Niemann-Pick diseases

Answer

Tay-Sachs disease

Question 9

Floaters can be seen in all of the following conditions except:

Accepted Answer

Acute congestive glaucoma

Answer

Vitreous hemorrhage

Answer

Retinal detachment

Answer

Uveitis

Question 10

Two tumours commonly associated with Masquerade syndrome are:

Accepted Answer

Eyelid sebaceous carcinoma, intraocular lymphoma

Answer

Conjunctival lymphoma, choroidal melanoma

Answer

Conjunctival lymphoma, intraocular lymphoma

Answer

Basal cell carcinoma, retinoblastoma

Diseases of the Retina — MCQs

Diseases of the Retina — MCQs

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