Congenital and Developmental Cataracts — MCQs

10 questions

A patient complains of an inability to read a newspaper, particularly in bright sunlight. What is the most likely diagnosis?

An infant with intolerance to breast milk, vomiting, and diarrhea develops cataracts. Which of the following is the most likely diagnosis?

In which of the following conditions does IOL implantation after cataract surgery require the greatest caution and specialized management?

A 6-month-old child presents with jaundice, hepatomegaly, and cataracts. What is the most likely diagnosis?

What is the most common type of congenital cataract?

Most common type of posterior polar cataract inheritance is:

Consider the following causes of visual loss : 1. Obstruction of the central retinal artery 2. Vitreous and retinal haemorrhage 3. Cataract 4. Retinal detachment Which of the above causes are associated with acute visual loss in a patient?

Vision 2020 "The right to sight" includes all except-

Q10

Which of the following is NOT a cause of posterior subcapsular cataract?

Congenital and Developmental Cataracts Indian Medical PG Practice Questions and MCQs

Question 1: A patient complains of an inability to read a newspaper, particularly in bright sunlight. What is the most likely diagnosis?

A. Nuclear cataract
B. Cortical cataract
C. Posterior subcapsular cataract (Correct Answer)
D. Congenital cataract

Explanation: ***Posterior subcapsular cataract*** - This type of cataract causes significant **glare** and **photophobia**, making it difficult to read in bright light due to opacities located at the **posterior lens capsule**. - The patient experiences worsening vision in **bright light** conditions because the constricted pupil directs more light through the **central posterior opacity**, which lies directly in the visual axis. *Nuclear cataract* - Patients with **nuclear cataracts** typically experience **myopic shift** and improved near vision (second sight) due to increased refractive power of the lens. - Vision is usually worse in **dim light** conditions because of pupillary dilation, which allows more light to pass through the central opacity. *Cortical cataract* - Characterized by **spoke-like opacities** that start in the periphery and extend inward. - While it can cause glare, vision often remains good until the opacities encroach upon the **visual axis**, and it doesn't specifically cause worsening vision in bright light to the same degree as PSC. *Congenital cataract* - Present at birth or shortly after, and symptoms depend on the density and location of the opacity. - While it affects vision, the specific complaint of difficulty reading in bright sunlight is not a typical distinguishing feature of **congenital cataracts**.

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: In which of the following conditions does IOL implantation after cataract surgery require the greatest caution and specialized management?

A. Fuchs' heterochromic iridocyclitis
B. Psoriatic arthritis
C. Reiter's syndrome
D. Juvenile rheumatoid arthritis (Correct Answer)

Explanation: ***Juvenile rheumatoid arthritis*** - Patients with **juvenile rheumatoid arthritis (JRA)**, particularly those with **pauciarticular JRA** and **ANA positivity**, are at high risk for developing chronic uveitis, which can lead to significant cataract formation and severe postoperative complications. - Due to the high risk of severe postoperative inflammation, glaucoma, and vision loss, IOL implantation in JRA patients requires extensive preoperative optimization of inflammation and careful intraoperative/postoperative management. *Fuchs' heterochromic iridocyclitis* - This condition presents with chronic, low-grade, **non-granulomatous anterior uveitis** and often leads to cataract formation. - While IOL implantation in these patients is generally well-tolerated, it does not pose the same high risk of severe postoperative inflammation and complications as seen in JRA-associated uveitis. *Psoriatic arthritis* - Psoriatic arthritis can be associated with acute anterior uveitis, but it typically presents as an acute, intermittent inflammation. - The risk of chronic, severe uveitis leading to complex cataract surgery and significant postoperative complications is not as consistently high or as severe as in JRA. *Reiter's syndrome* - Reiter's syndrome (now part of **reactive arthritis**) is another seronegative spondyloarthropathy that can cause acute anterior uveitis. - Similar to psoriatic arthritis, the uveitis is usually acute and self-limiting, and while ocular inflammation needs to be controlled, the risk profile for IOL implantation is not as challenging as in JRA.

Question 4: A 6-month-old child presents with jaundice, hepatomegaly, and cataracts. What is the most likely diagnosis?

A. Fructose intolerance
B. Hemochromatosis
C. Glycogen storage disease
D. Galactosemia (Correct Answer)
E. Wilson disease

Explanation: ***Galactosemia*** - **Galactosemia** is a genetic disorder affecting galactose metabolism, leading to a build-up of galactose-1-phosphate in tissues. - Symptoms like **jaundice**, **hepatomegaly**, and **cataracts** in an infant are classic presentations, often exacerbated by milk (lactose/galactose) intake. *Fructose intolerance* - **Hereditary fructose intolerance** typically manifests after the introduction of fructose into the diet, causing symptoms like vomiting, hypoglycemia, and liver dysfunction. - While it can cause hepatomegaly and jaundice, **cataracts** are not a typical feature of fructose intolerance. *Hemochromatosis* - **Hemochromatosis** is a disorder of iron overload, usually presenting in adulthood with symptoms such as fatigue, joint pain, liver disease (cirrhosis), and diabetes. - It is rarely diagnosed in infancy and **cataracts** are not a characteristic symptom. *Glycogen storage disease* - **Glycogen storage diseases** involve defects in glycogen synthesis or breakdown, leading to various symptoms depending on the specific enzyme deficiency. - Types affecting the liver often cause **hepatomegaly** and **hypoglycemia**, but **cataracts** are not a common, primary feature in most forms, and jaundice is also less typical than in galactosemia. *Wilson disease* - **Wilson disease** is a copper metabolism disorder that causes liver disease and neuropsychiatric symptoms. - It typically presents later in childhood or adolescence (rarely before age 3), and while it causes hepatomegaly and jaundice, the ocular finding is **Kayser-Fleischer rings**, not cataracts.

Question 5: What is the most common type of congenital cataract?

A. Polar cataract
B. Coralliform cataract
C. Capsular cataract
D. Lamellar cataract (Correct Answer)

Explanation: ***Lamellar cataract*** - **Lamellar cataracts**, also known as **zonular cataracts**, are the **most common** type of congenital cataract, accounting for approximately 40-50% of all congenital cataracts. - They are characterized by opacities affecting specific layers or lamellae of the lens, forming concentrically around the embryonic nucleus. - They can significantly impair vision depending on their density and size, and often present with a characteristic "riders" appearance on slit-lamp examination. *Polar cataract* - **Polar cataracts** involve the anterior or posterior pole of the lens and are typically small, well-circumscribed opacities. - They are less common than lamellar cataracts and may be stationary or progressive. - Posterior polar cataracts are more visually significant due to their location near the nodal point of the eye. *Capsular cataract* - **Capsular cataracts** involve the outermost layer of the lens, either anterior or posterior capsule, with minimal involvement of the lens cortex itself. - While they can be visually significant, they are less common overall than lamellar cataracts. *Coralliform cataract* - **Coralliform cataracts** are a rare type of congenital cataract characterized by **coral-like opacities** located in the deep cortex and nucleus. - They have a distinct morphology but are not the most frequently encountered congenital cataract.

Question 6: What is the most common type of congenital cataract?

A. Blue dot (Correct Answer)
B. Capsular
C. Coralliform
D. Zonular

Explanation: ***Blue dot*** - **Blue dot (punctate) cataracts** are the **most common type of congenital cataract overall**. - They appear as **multiple small, blue-white opacities** scattered throughout the lens cortex. - These cataracts are typically **bilateral, non-progressive, and asymptomatic**, rarely affecting visual acuity. - Often considered **physiological variants**, they usually do not require surgical intervention. *Zonular (Lamellar)* - **Zonular (lamellar) cataracts** are the **most common visually significant** congenital cataract. - They feature **opacities arranged in layers or lamellae** within the lens, classically with alternating clear and opaque zones. - Unlike blue dot cataracts, these **often require surgical intervention** due to visual impairment. *Capsular* - **Capsular cataracts** involve the anterior or posterior lens capsule and are relatively uncommon. - They appear as **small, well-circumscribed opacities** on the lens capsule. - Visual impact depends on size and location relative to the visual axis. *Coralliform* - **Coralliform cataracts** are a rare type characterized by **coral-like branching opacities**. - This distinctive morphology makes them one of the less common congenital cataract types.

Question 7: Most common type of posterior polar cataract inheritance is:

A. X-linked dominant
B. Autosomal dominant (Correct Answer)
C. Autosomal recessive
D. X-linked recessive

Explanation: ***Autosomal dominant*** - **Posterior polar cataracts** are frequently inherited in an autosomal dominant pattern, meaning a single copy of the altered gene is sufficient to cause the condition. - This inheritance pattern is characterized by vertical transmission through generations, affecting approximately **50% of offspring** from an affected parent. *X-linked dominant* - **X-linked dominant** inheritance would primarily affect females more severely than males, and affected fathers would not pass the trait to their sons. - While possible for some conditions, it is not the most common inheritance pattern for posterior polar cataracts. *Autosomal recessive* - **Autosomal recessive** inheritance requires two copies of the altered gene (one from each parent) for the disease to manifest, often with unaffected carrier parents. - This pattern is less frequent for isolated posterior polar cataracts compared to autosomal dominant. *X-linked recessive* - **X-linked recessive** inheritance primarily affects males, with affected males passing the trait to all their daughters, making them carriers. - This pattern is rare for posterior polar cataracts and typically leads to more distinct clinical presentations.

Question 8: Consider the following causes of visual loss : 1. Obstruction of the central retinal artery 2. Vitreous and retinal haemorrhage 3. Cataract 4. Retinal detachment Which of the above causes are associated with acute visual loss in a patient?

A. 1, 3 and 4
B. 1, 2 and 3
C. 2, 3 and 4
D. 1, 2 and 4 (Correct Answer)

Explanation: ***1, 2 and 4*** - **Obstruction of the central retinal artery**, **vitreous and retinal haemorrhage**, and **retinal detachment** all present as sudden, acute vision loss. - **Central retinal artery occlusion** causes complete, sudden, painless monocular vision loss. **Vitreous hemorrhage** is acute, painless, and can present with floaters or red haze. **Retinal detachment** is acute, painless vision loss, often preceded by flashes and floaters, and can present as a "curtain" coming across the vision. *1, 3 and 4* - While **central retinal artery obstruction** and **retinal detachment** cause acute vision loss, **cataracts** typically cause gradual, progressive vision loss over months to years. - Cataracts primarily affect lens clarity, leading to blurry vision, glare, and dull colors rather than an abrupt onset of blindness. *1, 2 and 3* - **Central retinal artery obstruction** and **vitreous/retinal hemorrhage** lead to acute vision loss, but **cataracts** are a cause of *chronic* and *gradual* vision impairment. - The onset and progression of a **cataract** are distinctly different from the sudden nature of acute vision loss conditions. *2, 3 and 4* - **Vitreous and retinal haemorrhage** and **retinal detachment** are causes of acute vision loss, but a **cataract** is not. - The defining characteristic of acute vision loss is its rapid onset, which does not align with the slow development of a cataract.

Question 9: Vision 2020 "The right to sight" includes all except-

A. Measles induced blindness (Correct Answer)
B. Onchocerciasis
C. Trachoma
D. Cataract

Explanation: ***Measles induced blindness*** - Vision 2020 primarily targets conditions that are either preventable or treatable with *cost-effective interventions* and contribute significantly to *avoidable blindness*. - While measles can cause blindness, the specific program focuses on a defined list of priority diseases for intervention, and measles-related blindness is generally addressed through broader public health initiatives (vaccination) rather than direct "right to sight" surgical or direct medical interventions for established blindness. *Onchocerciasis* - **Onchocerciasis** (river blindness) is a major focus of Vision 2020 due to its profound impact on sight, particularly in endemic areas. - It is a **preventable** and **treatable** cause of blindness through mass drug administration. *Trachoma* - **Trachoma** is recognized as one of the leading infectious causes of blindness globally and is explicitly targeted by Vision 2020 through the **SAFE strategy** (Surgery, Antibiotics, Facial cleanliness, Environmental improvement). - It is a highly **preventable** and **treatable** condition, fitting the program's objectives. *Cataract* - **Cataract** is the leading cause of blindness worldwide and is highly **treatable** through a relatively simple and cost-effective surgical procedure. - Providing cataract surgery is a cornerstone of the Vision 2020 initiative to restore sight.

Question 10: Which of the following is NOT a cause of posterior subcapsular cataract?

A. Ionizing radiation
B. Wilson's Disease
C. Myotonic dystrophy
D. Congenital cataract (Correct Answer)

Explanation: ***Congenital cataract*** - **Congenital cataract** is the correct answer because it is **not an etiological cause** but rather a **temporal classification** describing cataracts present at birth or within the first year of life. - The question asks for **causes** (risk factors or etiological agents) of posterior subcapsular cataracts, whereas "congenital cataract" describes **when** the cataract occurs, not **what causes** it. - While congenital cataracts can have various morphologies (including posterior polar types), they arise from developmental abnormalities, genetic factors, or intrauterine infections—not from acquired causes like the other options listed. *Myotonic dystrophy* - **Myotonic dystrophy** is a well-established systemic disorder associated with **posterior subcapsular cataracts**, often with a characteristic **"Christmas tree" or polychromatic appearance**. - This is an **acquired cause** due to the genetic defect (CTG repeat expansion) affecting lens metabolism and protein structure. *Wilson's Disease* - **Wilson's disease**, a disorder of copper metabolism, causes the characteristic **"sunflower cataract"**, which is a type of **posterior subcapsular cataract** with a polychromatic, petal-like appearance. - Copper deposition in the lens capsule and epithelium is the underlying **etiological mechanism**. *Ionizing radiation* - Exposure to **ionizing radiation** (radiotherapy, occupational exposure) is a well-known **acquired cause** of **posterior subcapsular cataracts**. - Radiation damages lens epithelial cells, particularly in the posterior region, leading to migration and opacification in the posterior subcapsular zone.

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