Questions and Answers
At what age does Stargardt disease typically present?
What is the first sign of Stargardt disease?
What genetic mutation is associated with Best's vitelliform macular dystrophy?
Which of the following statements about X-linked juvenile retinoschisis is correct?
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Which visual acuity level is typically observed in patients with Best's vitelliform macular dystrophy as they progress?
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What is the characteristic appearance of lesions in Best's vitelliform macular dystrophy?
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Which symptom is usually present early in the course of Stargardt disease?
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In which retinal condition do yellowish/white flecks appear predominantly in the periphery?
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What is the typical progression of vision loss in X-linked juvenile retinoschisis?
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Which of the following conditions is characterized by a discoid lesion that resembles an egg yolk?
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Which of the following statements accurately describes Stargardt disease?
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What is the primary cause of both Stargardt disease and Fundus Flavimaculatus?
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Which of the following visual acuity levels is commonly observed in patients with X-Linked Juvenile Retinoschisis by age 20?
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Which of the following is a notable feature of Fundus Flavimaculatus?
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How does the visual acuity typically progress in Best's Vitelliform Macular Dystrophy?
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Which visual defect is commonly associated with X-Linked Juvenile Retinoschisis?
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In what age range is Stargardt disease commonly diagnosed?
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What is the genetic inheritance pattern of Best's Vitelliform Macular Dystrophy?
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Which of the following is NOT a characteristic feature of Stargardt disease?
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What is the main systemic issue associated with sickle cell anemia?
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Which ocular complication is most commonly associated with Hemoglobin C disease?
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What is a common finding in the posterior segment non-proliferative stage of sickle cell disease?
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Which condition is most likely to cause peripheral arteriolar occlusion in the retina?
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Which of the following descriptions fits the ‘comma’ iris atrophy seen in sickle cell disease?
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What pathological change is characterized by ‘sea fan’ neovascularization?
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In which segment of the retina would you typically observe salmon patches and iridescent spots?
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What type of retinopathy is associated with sickle cell trait (SA)?
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What is the significance of a conjunctival sickling sign in patients with sickle cell disease?
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Which condition presents with hemoglobin mutation leading to significant ocular effects?
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Study Notes
Stargardt Disease
- Most prevalent form of childhood macular degeneration.
- Typically manifests between ages 8-14 years.
- Gradual visual acuity loss, potentially reaching 20/200 by age 30.
- Early stages may show a normal fundus appearance.
- Later stages exhibit loss of foveal reflex and round pigmented macular atrophy.
- Associated with Fundus Flavimaculatus characterized by yellowish/white flecks, often sparing the fovea.
- Both conditions result from abnormal lipofuscin accumulation in retinal pigment epithelium (RPE).
- Both disorders share a genetic link at the ABCA4 gene locus.
Best's Vitelliform Macular Dystrophy
- Inherited in an autosomal dominant pattern linked to the BEST1 gene.
- Presents with a sharply defined, yellowish discoid lesion resembling an egg yolk in the macular area.
- Diagnosis usually occurs between ages 3-15 years.
- The lesion may later fragment, leading to atrophic changes resembling scrambled eggs.
- Vision impairment can reach around 20/200.
- "Vitelliform" refers to the egg-like appearance of the lesion.
X-Linked Juvenile Retinoschisis
- Inherited in an X-linked recessive manner and primarily affects males.
- Condition presents bilaterally but often asymmetrically.
- Initial visual acuity at presentation ranges from 20/70 to 20/100.
- Visual acuity generally deteriorates to about 20/200 by age 20.
- Notable foveal retinoschisis is often described as a spoke-like appearance.
- Boys are more susceptible to developing this condition than girls.
Stargardt Disease
- Most prevalent form of childhood macular degeneration.
- Typically manifests between ages 8-14 years.
- Gradual visual acuity loss, potentially reaching 20/200 by age 30.
- Early stages may show a normal fundus appearance.
- Later stages exhibit loss of foveal reflex and round pigmented macular atrophy.
- Associated with Fundus Flavimaculatus characterized by yellowish/white flecks, often sparing the fovea.
- Both conditions result from abnormal lipofuscin accumulation in retinal pigment epithelium (RPE).
- Both disorders share a genetic link at the ABCA4 gene locus.
Best's Vitelliform Macular Dystrophy
- Inherited in an autosomal dominant pattern linked to the BEST1 gene.
- Presents with a sharply defined, yellowish discoid lesion resembling an egg yolk in the macular area.
- Diagnosis usually occurs between ages 3-15 years.
- The lesion may later fragment, leading to atrophic changes resembling scrambled eggs.
- Vision impairment can reach around 20/200.
- "Vitelliform" refers to the egg-like appearance of the lesion.
X-Linked Juvenile Retinoschisis
- Inherited in an X-linked recessive manner and primarily affects males.
- Condition presents bilaterally but often asymmetrically.
- Initial visual acuity at presentation ranges from 20/70 to 20/100.
- Visual acuity generally deteriorates to about 20/200 by age 20.
- Notable foveal retinoschisis is often described as a spoke-like appearance.
- Boys are more susceptible to developing this condition than girls.
Sickle Cell Anemia
- Mutation in hemoglobin gene leading to "sickled" cell shape under low oxygen conditions.
- Prevalence in the African American (AA) population: sickle cell trait (8-9%), sickle cell anemia (0.4%).
- Systemic complications are significant, while ocular complications are relatively few.
- Some children display non-proliferative retinal signs.
Hemoglobin C Disease and Thalassemia
- Hemoglobin C disease prevalence is 0.1-0.3% with milder systemic effects but common proliferative retinopathy.
- Thalassemia prevalence is 0.5-1%, rare in the US but also associated with proliferative retinopathy.
Ocular Effects in Sickle Cell Disease
- Anterior segment signs include:
- Conjunctival sickling sign.
- "Comma" iris atrophy.
- Hyphema presence.
Non-Proliferative Retinal Findings
- Posterior segment includes:
- Retinal vessel tortuosity.
- Occlusions and epiretinal membranes (ERM).
- Angioid streaks.
- Peripheral findings consist of:
- Salmon patches.
- Iridescent spots.
- Black sunburst spots.
- Schisis cavities.
Proliferative Retinal Findings
- Peripheral arteriolar occlusions and arteriovenous (AV) anastomoses (hair-pin loops).
- Neovascularization, often described as "sea fan" formations.
- Potential complications: vitreous hemorrhage and retinal detachment.
- Proliferative changes usually lead to vision loss.
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Description
Explore the characteristics and progress of Stargardt Disease, the most common form of childhood macular degeneration. This quiz covers its presentation, visual acuity loss, and changes in the fundus over time. Gain insights into this slowly progressive condition affecting children aged 8-14.
