Questions and Answers
What characterizes the blood vessel growth in retinopathy of prematurity (ROP)?
What is the main problem in ROP that occurs due to the avascular retina?
Which of the following statements about retinopathy of prematurity is true?
What is the relationship between normal blood vessel growth and ROP?
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What specific stage of ROP did Stevie Wonder have, as referenced in the content?
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Which clinical issue can arise due to the avascular region in the retina of infants with ROP?
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What is the primary consequence of neovascularization in the retina?
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Which zone of the retina is primarily affected in most cases of Retinopathy of Prematurity (ROP)?
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What characterizes Stage 2 of Retinopathy of Prematurity?
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Which treatment for stage 3 ROP has been shown to reduce the likelihood of vision loss by 50% compared to untreated patients?
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What is the indication of 'plus disease' in the context of Retinopathy of Prematurity?
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Which hereditary condition primarily causes severe visual impairment in infants by two months of age?
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Which complication is frequently associated with Retinopathy of Prematurity?
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In which condition is night blindness accompanied by normal visual acuity typically found?
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What is a notable symptom of Rod Monochromatism?
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What change is commonly observed by adolescence in patients with Leber's Congenital Amaurosis?
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Study Notes
Retinal Diseases Presenting in Infancy
- Retinopathy of Prematurity (ROP): Abnormal blood vessel growth in the retina of premature infants, where normal vessels fail to extend adequately.
- VEGF: Vascular Endothelial Growth Factor is secreted by the avascular retina, stimulating growth of new blood vessels.
- Consequences of Neovascularization: Leaky blood vessels cause fluid accumulation, leading to retinal detachment and potential vision loss.
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Risk Factors for ROP:
- Low birth weight:
- Normal: 2500-4200g
- Low Birth Weight (LBW): <2499g
- Very Low Birth Weight (VLBW): <1500g
- Extremely Low Birth Weight (ELBW): <1000g
- Prematurity: Birth at or before 32 weeks.
- Need for supplemental oxygen or mechanical ventilation for over 2 weeks.
- Severe illness at birth.
- Low birth weight:
Zones of ROP
- Zone 1: Closest to optic nerve and macula, worst prognosis.
- Zone 2: Mid-peripheral retina, severe ROP.
- Zone 3: Far temporal periphery, where most ROP is diagnosed.
Stages of ROP
- Stage 1: Distinct border; mild abnormal blood vessel growth. Resolves without treatment.
- Stage 2: Elevated ridge forms; moderately abnormal growth with neovascularization. Resolves without treatment.
- Stage 3: Fibrovascular tissue extends into the vitreous; severe abnormal vessel growth, may see "plus disease." Treatment often needed.
- Stage 4: Partial retinal detachment involving macula; vision generally worse than 20/200. Treatment required.
- Stage 5: Total retinal detachment; may present with leukocoria. Severe vision loss often occurs.
Treatment Options
- Cryotherapy: Effective for stage 3 ROP, reducing risk of severe vision loss and retinal detachment.
- Laser Photocoagulation: Comparable effectiveness to cryotherapy, associated with fewer complications and may be preferred.
Complications from ROP
- Poor best-corrected visual acuity (BCVA).
- Myopia (nearsightedness).
- Strabismus (crossed eyes).
- Amblyopia (lazy eye).
- Glaucoma, Nystagmus, Cataracts.
Leber’s Congenital Amaurosis
- Severe visual impairment within the first 2 months of life, accounts for 10-18% of congenital blindness.
- Autosomal Recessive Inheritance: Presents with visual inattentiveness, nystagmus, poor light response, and flat or severely reduced Electroretinography (ERG).
- Fundus may appear normal at birth, with potential later findings of pigmentary retinopathy or optic atrophy.
Congenital Stationary Night Blindness
- Presentation: Inherited retinal condition characterized by night blindness, nystagmus, and high myopia with a normal fundus.
- Inheritance: Autosomal Recessive or X-linked.
Achromatopsia
- Characterized by absence of functioning cone cells, resulting in severe color blindness and low visual acuity (around 20/200), often accompanied by photophobia.
- Incomplete Achromatopsia: Similar but with better visual acuity (20/80-20/120) and some color perception.
- Blue Cone Monochromatism: Normal rod and blue cone function, but complete lack of red and green cone function.
Foveal Hypoplasia
- Indicative of poorly developed macula/fovea, leading to reduced vision and nystagmus.
- Observed in conditions like albinism and aniridia, may be an isolated abnormality.
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Description
This quiz focuses on retinal diseases that present in infants, particularly emphasizing conditions like retinopathy of prematurity. It examines the growth patterns of abnormal blood vessels in the retina of premature infants and the implications for their visual health. Understand the clinical aspects and outcomes of these conditions.