Quiz on Genetic Eye Disorders and Syndromes

Refsum Syndrome

• Characterized by a combination of deafness, ataxia, polyneuropathy, and cardiomyopathy.

Atypical Retinitis Pigmentosa

• Subtypes include:
  • RP without pigment spots (RP sin pigmento).
  • Retinitis punctata albescence, identified by white spots on the retina.
  • Unilateral retinitis pigmentosa.
  • Sectorial retinitis pigmentosa.
  • Pericentric retinitis pigmentosa.
• Prognosis involves gradual loss of vision.
• Differential diagnosis includes:
  • Night blindness.
  • Ring scotoma and tubular visual fields.
  • Optic atrophy.
• Treatments found to be ineffective:
  • Vitamin A supplementation.
  • Vasodilators.
  • Low vision aids.
  • Genetic counseling.

Amaurotic Family Idiocy

• Tay-Sach's Disease is notable for:
  • Lipoid degeneration of ganglion cells in the brain and retina.
  • Commonly seen in Jewish children, often associated with consanguinity.
  • Symptoms typically manifest within the first year of life, with death usually occurring within 1-2 years.
• Fundoscopic findings include:
  • Cherry red spot due to degeneration of the retina except for the fovea.
  • Consecutive optic atrophy.

Age-Related Macular Degeneration (ARMD)

• Definition: A macular disease resulting in severe central vision impairment in individuals over 50 years old.
• Typically bilateral and symmetrical presentation.
• Clinical presentation includes:
  • Age-related maculopathy, characterized by drusen:
    • Small, discrete, yellow-white slightly elevated bilateral symmetrical spots.
• Pathogenesis involves failure to clear debris, leading to accumulation between the retinal pigment epithelium (RPE) and Bruch's membrane.
• Risk factors for developing ARMD include:
  • Presence of large soft confluent drusen (high-risk).
  • Smoking and hypertension.
• Treatment strategies for reducing risk of high-risk drusen:
  • Cessation of smoking.
  • Management of hypertension.
  • Use of multivitamins and antioxidants to potentially prevent progression of ARMD.