Pediatric Cataract — MCQs
A child presents with unilateral white reflex (leukocoria) and raised intraocular pressure, raising suspicion of retinoblastoma. Which of the following investigations is the most appropriate to perform?
An infant with intolerance to breast milk, vomiting, and diarrhea develops cataracts. Which of the following is the most likely diagnosis?
All are true except:
Postoperative complications of cataract surgery are all except?
A child presenting with a whitish pupillary reflex (leukocoria) was treated with enucleation. Histopathology of the specimen showed Flexner-Wintersteiner rosettes. What is the most likely diagnosis?
The gene known to be associated with cataract is
A patient with cataract presents with pain and redness of eye. On examination he had deep anterior chamber. What is the diagnosis?
The following spectacle is used in? (AIIMS Nov 2018)
Which instrument is shown below?
What is the gold standard method for visualizing the periphery of the retina?
Pediatric Cataract Indian Medical PG Practice Questions and MCQs
Question 1: A child presents with unilateral white reflex (leukocoria) and raised intraocular pressure, raising suspicion of retinoblastoma. Which of the following investigations is the most appropriate to perform?
- A. Ultrasound imaging of the eye
- B. Measurement of intraocular pressure
- C. Detailed examination under anesthesia (Correct Answer)
- D. CT imaging of the orbit and head
Explanation: ***Detailed examination under anesthesia*** - A **detailed examination under anesthesia (EUA)** is crucial for accurately assessing the extent of intraocular lesions in children, particularly those with suspected retinoblastoma. It allows for a thorough and precise evaluation of tumor size, location, and multifocality that is otherwise difficult to achieve in an awake child. - EUA often includes fundus photography, ultrasonography, and sometimes anterior segment examination, all performed systematically without the child moving. It is the gold standard for **diagnosing and staging retinoblastoma**. *Ultrasound imaging of the eye* - **Ocular ultrasound** is a key component of the investigation and can help identify the intraocular mass and detect calcifications, which are characteristic of retinoblastoma. - However, ultrasound alone is often insufficient to fully characterize the tumor's extent or for precise staging, and it doesn't replace the need for direct visualization and comprehensive examination. *Measurement of intraocular pressure* - **Raised intraocular pressure** is a symptom that can be present in retinoblastoma but is not a diagnostic tool for the condition itself; it indicates secondary glaucoma due to the tumor. - While important for clinical management, measuring IOP does not directly visualize or characterize the tumor to confirm the diagnosis of retinoblastoma. *CT imaging of the orbit and head* - While **CT imaging** can detect orbital and intracranial extension of retinoblastoma, it involves **ionizing radiation**, which is a significant concern in children, especially those with an increased genetic risk for secondary cancers. - **MRI** is generally preferred over CT for assessing extraocular extension and possible central nervous system involvement due to its superior soft tissue contrast and lack of radiation exposure.
Question 2: An infant with intolerance to breast milk, vomiting, and diarrhea develops cataracts. Which of the following is the most likely diagnosis?
- A. Galactosemia (Correct Answer)
- B. Fabry disease
- C. Lowe syndrome
- D. Congenital hypoglycemia
- E. Homocystinuria
Explanation: **Galactosemia** - **Galactosemia** is an inborn error of metabolism where the body is unable to process **galactose**, leading to its build-up. - Symptoms such as **vomiting**, **diarrhea**, **failure to thrive** (intolerance to breast milk containing lactose, which is broken down into glucose and galactose), and **cataracts** are classic signs of galactosemia in infants. *Lowe syndrome* - Also known as **oculocerebrorenal syndrome**, Lowe syndrome is an X-linked disorder characterized by **congenital cataracts**, **renal tubular dysfunction**, and **intellectual disability**. - While cataracts are present, it primarily presents with **kidney and brain abnormalities**, not predominantly with GI symptoms like vomiting and diarrhea upon feeding. *Fabry disease* - **Fabry disease** is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme **alpha-galactosidase A**. - It is characterized by **neuropathic pain**, **angiokeratomas**, **renal disease**, and **cardiac involvement**, and is not typically associated with infantile vomiting, diarrhea, or early onset cataracts from breast milk intolerance. *Homocystinuria* - **Homocystinuria** is an inherited disorder of methionine metabolism due to **cystathionine beta-synthase deficiency**. - It presents with **lens dislocation** (ectopia lentis), **intellectual disability**, **skeletal abnormalities** (marfanoid habitus), and **thromboembolism**, typically becoming apparent in later infancy or childhood, not with acute feeding intolerance and GI symptoms in early infancy. *Congenital hypoglycemia* - **Congenital hypoglycemia** refers to abnormally low blood glucose levels at birth or shortly after. - Symptoms include **poor feeding**, **lethargy**, **irritability**, and **seizures**, but it is not typically associated with cataracts or specific intolerance to breast milk causing vomiting and diarrhea as seen in metabolic disorders.
Question 3: All are true except:
- A. The embryonic nucleus is situated between the two Y sutures
- B. Congenital blue dot cataracts are associated with development of senile cataract at an early stage
- C. The infantile nucleus is completely formed by one year of age (Correct Answer)
- D. Zonular cataracts typically affect the outer part of the fetal or the inner part of the adult nucleus
Explanation: ***The infantile nucleus is completely formed by one year of age*** - The **infantile nucleus** is NOT completely formed by one year of age; it continues to develop from birth until approximately **3 years of age**, not just one year. - Lens growth is a continuous process throughout life, with new fibers being laid down, leading to the formation of different nuclear layers over time. *The embryonic nucleus is situated between the two Y sutures* - The **embryonic nucleus** is indeed located between the **anterior and posterior Y sutures**, which mark the boundaries of the primary lens fibers. - These sutures are formed during the early stages of lens development. - This statement is **TRUE**. *Congenital blue dot cataracts are associated with development of senile cataract at an early stage* - **Blue dot cataracts (cerulean cataracts)** are typically stationary, benign, and **do not predispose** to the development of senile cataracts at an earlier stage. - They are usually congenital and do not significantly impair vision. - This statement is **TRUE** (they do NOT cause early senile cataracts, but the statement itself describes the condition accurately as a recognized entity). *Zonular cataracts typically affect the outer part of the fetal or the inner part of the adult nucleus* - **Zonular (lamellar) cataracts** are characterized by opacities that form concentric layers (zones) within the lens, typically affecting the **fetal nucleus** or the inner part of the **adult nucleus**. - They develop around the time of birth or in early childhood, often due to metabolic disturbances. - This statement is **TRUE**.
Question 4: Postoperative complications of cataract surgery are all except?
- A. Endophthalmitis
- B. Glaucoma
- C. Scleritis (Correct Answer)
- D. After cataract
Explanation: ***Scleritis*** - **Scleritis** is an inflammatory condition of the sclera, which is the white outer layer of the eye, and is generally not a direct postoperative complication of cataract surgery. - While it can occur in patients with systemic inflammatory diseases, it is not causally linked to cataract surgery itself. *Endophthalmitis* - **Endophthalmitis** is a severe infection of the intraocular fluids (vitreous and aqueous humor) and tissues, representing a rare but devastating complication of cataract surgery. - It typically presents with rapidly progressive vision loss, pain, and hypopyon (pus in the anterior chamber) within days to weeks post-surgery. *Glaucoma* - **Glaucoma** can develop or worsen after cataract surgery due to various mechanisms, such as inflammation leading to trabecular meshwork dysfunction, pupillary block, or retained lens material. - Postoperative intraocular pressure (IOP) elevation can result in optic nerve damage if not promptly managed. *After cataract* - **After cataract**, also known as **posterior capsule opacification (PCO)**, is the most common long-term complication of cataract surgery. - It occurs when residual lens epithelial cells proliferate and migrate onto the posterior lens capsule, causing blurring of vision months to years after surgery, and is typically treated with Nd:YAG laser capsulotomy.
Question 5: A child presenting with a whitish pupillary reflex (leukocoria) was treated with enucleation. Histopathology of the specimen showed Flexner-Wintersteiner rosettes. What is the most likely diagnosis?
- A. Retinoblastoma (Correct Answer)
- B. Astrocytoma
- C. Medulloblastoma
- D. Rhabdomyosarcoma
Explanation: ***Retinoblastoma*** - The presence of **leukocoria** (whitish pupillary reflex) in a child is the most common presenting sign of **retinoblastoma** [2]. - **Flexner-Wintersteiner rosettes** are characteristic histological features of retinoblastoma, confirming the diagnosis [1]. *Astrocytoma* - Astrocytomas are **brain tumors** that typically do not cause leukocoria or originate in the retina [3]. - Their histology involves glial cells and would not show Flexner-Wintersteiner rosettes [3]. *Medulloblastoma* - Medulloblastomas are **malignant brain tumors** of the cerebellum, presenting with symptoms like ataxia and hydrocephalus [4]. - They are not associated with leukocoria or retinal involvement. *Rhabdomyosarcoma* - Rhabdomyosarcoma is a **malignant tumor of skeletal muscle**, most commonly found in the head and neck, genitourinary tract, or extremities. - While it can occur in the orbit, its histology is distinct and involves rhabdomyoblasts, not rosettes, and it's less likely to present purely as leukocoria. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Eye, pp. 1341-1342. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Manifestations Of Central And Peripheral Nervous System Disease, pp. 737-738. [3] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Manifestations Of Central And Peripheral Nervous System Disease, pp. 725-726. [4] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Central Nervous System, pp. 1314-1315.
Question 6: The gene known to be associated with cataract is
- A. PAX6
- B. FKHL7
- C. CRYAA (Correct Answer)
- D. CYP1B1
Explanation: ***CRYAA*** - The **CRYAA (crystallin alpha A)** gene is a significant contributor to both congenital and age-related cataracts. - Mutations in **crystallin genes** disrupt the normal structure and transparency of the lens proteins, leading to opacification. - CRYAA is one of the most commonly implicated crystallin genes in hereditary cataract formation. *PAX6* - **PAX6** is a master control gene for eye development and is primarily associated with **aniridia**, a condition characterized by a partial or complete absence of the iris. - While aniridia can be associated with secondary cataracts, PAX6 mutations are not a direct cause of primary cataract formation. *FKHL7* - This gene is more commonly referred to as **FOXC1** and is implicated in **ocular anterior segment dysgenesis**, such as **Axenfeld-Rieger syndrome**. - These conditions can lead to glaucoma and other ocular anomalies but are not directly linked to cataract as their primary presentation in the way crystallin genes are. *CYP1B1* - The **CYP1B1** gene is most notably associated with **primary congenital glaucoma**, particularly in individuals of Arab and Gypsy descent. - Mutations in this gene affect the development of the aqueous humor outflow pathways, leading to elevated intraocular pressure and optic nerve damage, not primarily cataract.
Question 7: A patient with cataract presents with pain and redness of eye. On examination he had deep anterior chamber. What is the diagnosis?
- A. Acute phacolytic glaucoma (Correct Answer)
- B. Acute angle closure glaucoma
- C. Acute neovascular glaucoma
- D. Acute phacomorphic glaucoma
Explanation: ***Acute phacolytic glaucoma*** - This condition occurs when **lens proteins leak** from a mature or hypermature cataract into the aqueous humor, causing an inflammatory reaction and **trabecular meshwork obstruction**, leading to elevated intraocular pressure. - The presence of a **deep anterior chamber** distinguishes it from phacomorphic glaucoma, which is characterized by a shallow anterior chamber due to lens intumescence. *Acute angle closure glaucoma* - This typically presents with a **shallow anterior chamber** as the iris bows forward, blocking the trabecular meshwork. - While it causes pain and redness, the deep anterior chamber described in the patient makes this diagnosis unlikely. *Acute neovascular glaucoma* - This type of glaucoma results from the formation of **new blood vessels** on the iris and in the angle of the anterior chamber, often due to conditions like **diabetic retinopathy** or **retinal vein occlusion**. - There is no mention of such predisposing factors or visible neovascularization in the patient's presentation. *Acute phacomorphic glaucoma* - This condition is caused by the **intumescence (swelling) of a cataractous lens**, which pushes the iris forward, leading to a **shallow anterior chamber** and angle closure. - The patient's presentation of a **deep anterior chamber** rules out phacomorphic glaucoma.
Question 8: The following spectacle is used in? (AIIMS Nov 2018)
- A. Progressive glasses for presbyopia
- B. Bifocal glasses for presbyopia (Correct Answer)
- C. Bifocals for paediatric pseudo-phakia
- D. Bifocals for adult aphakia
Explanation: ***Bifocal glasses for presbyopia*** - The image clearly shows spectacle lenses with a visible **horizontal line separating two distinct optical powers**, which is characteristic of **bifocal lenses**. - **Presbyopia** is the condition where the eye's lens loses its ability to focus on near objects, requiring a different optical correction for near vision separate from distance vision, precisely what bifocals provide. *Progressive glasses for presbyopia* - **Progressive lenses** offer a gradual change in optical power from distance to near vision without a visible dividing line, unlike the spectacles shown. - They provide a continuous range of focus, but the absence of a visible segment in progressive lenses differentiates them from bifocals. *Bifocals for paediatric pseudo-phakia* - While pediatric pseudophakia (presence of an intraocular lens in a child) might require bifocals, the question asks for the primary use of the *pictured* bifocals, which commonly address **age-related presbyopia**. - Additionally, pseudophakia itself doesn't inherently imply a need for bifocals unless there's an accommodative issue, which is more typically associated with adult presbyopia. *Bifocals for adult aphakia* - **Aphakia** is the absence of the natural lens in the eye, which requires strong corrective lenses. While bifocals can be used in aphakia to provide both distance and near correction, the pictured bifocals are a standard design most commonly associated with correcting **presbyopia** in the general population. - Aphakic corrections generally involve much higher power lenses, which might appear thicker or have different characteristics than the standard bifocal shown.
Question 9: Which instrument is shown below?
- A. Retinoscope
- B. Direct ophthalmoscope
- C. Indirect ophthalmoscope
- D. Slit lamp biomicroscope (Correct Answer)
Explanation: ***Slit lamp biomicroscope*** - The image clearly depicts a **slit lamp biomicroscope**, characterized by its high-magnification binocular microscope and a slit illuminator - This instrument is used for detailed examination of the **anterior segment structures** of the eye, such as the cornea, iris, and lens - The characteristic features include a **chin rest**, **forehead rest**, and **joystick control** for precise positioning *Retinoscope* - A **retinoscope** is a handheld instrument used to objectively determine the **refractive error** of an eye through observation of the reflective properties of light from the retina - It does not resemble the large, mounted device with a chin rest shown in the image *Direct ophthalmoscope* - A **direct ophthalmoscope** is a handheld device used to view the **posterior segment** of the eye, particularly the retina and optic disc, directly through the pupil - It is much smaller and does not have the complex mechanical stage and chin rest seen in the image *Indirect ophthalmoscope* - An **indirect ophthalmoscope** is typically worn on the examiner's head and used in conjunction with a **condensing lens** to provide a wider, stereoscopic view of the retina - Its appearance is distinctly different from the instrument in the image, which is a stationary examination unit
Question 10: What is the gold standard method for visualizing the periphery of the retina?
- A. Direct ophthalmoscopy
- B. Indirect ophthalmoscopy (Correct Answer)
- C. Retinoscopy
- D. USG
Explanation: ***Correct: Indirect ophthalmoscopy*** - This method uses a **condensing lens** and a bright light source to provide a **wide-field, stereoscopic view** of the retina, making it ideal for visualizing the periphery. - It allows for examination even through some media opacities and is particularly useful for detecting peripheral retinal tears or detachments. - Provides a **field of view of 25-40 degrees** compared to only 5-10 degrees with direct ophthalmoscopy. *Incorrect: Direct ophthalmoscopy* - Provides a **highly magnified but narrow field of view**, making it difficult to systematically scan and visualize the entire peripheral retina. - It offers an **upright, monocular image** with limited depth perception, which is not optimal for assessing the three-dimensional structures of the retinal periphery. *Incorrect: Retinoscopy* - This is an objective method used to **determine the refractive error** of an eye, not for direct visualization of the retinal structures. - It involves observing the reflection of light from the retina as the examiner moves a light source across the eye. *Incorrect: USG* - **Ultrasound (USG)** is primarily used to visualize ocular structures when direct visualization is obscured by dense media opacities (e.g., severe cataracts, vitreous hemorrhage). - It provides 2D images and is not the gold standard for **routine, high-resolution visualization** of the retinal periphery when a clear view is obtainable.
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