A 15-yr-old boy with no previous significant past history and no positive family history presents with bilateral progressive loss of central vision. ERG is normal. What is the diagnosis? (AIPG 2011)
This 15-yr-old boy with no previous significant past history and no positive family history has presented with bilateral progressive loss of central vision and his ERG is normal. So, the most probable clinical diagnosis would be Best’s disease.
Best's disease, also called Vitelliform macular dystrophy,
1. is an autosomal dominant (i.e., 50% of family members have it) form of generalized retinal pigment epithelium (RPE) dystrophy.
2. In Best's disease is appearance of a "sunny-side-up egg yolk" in the early stages and later appears as a "scrambled egg."
3. There is no treatment available for Best's disease.
4. The diagnostic test for Best's disease is the electro-oculogram (EOG), which is abnormal
5. Visual Acuity Often Remains Good, And The Erg Is Normal. An Abnormal Electro-Oculogram (Eog) Is The Hallmark Of The Disease.
1. or fundus flavimaculatus, is an inherited juvenile macular degeneration that causes progressive vision loss.
2. The progression usually starts between the ages of six and twelve years old and plateaus shortly after rapid reduction in visual acuity.
3. Stargardt disease is the most common form of inherited juvenile macular degeneration.
4. Those with Stargardt disease are sensitive to glare;.
5. Vision is most noticeably impaired when the macula (center of retina and focus of vision) is damaged, leaving peripheral vision more intact.
6. Symptoms usually appear before age 20. Symptoms include wavy vision, blind spots, blurriness, impaired color vision, and difficulty adapting to dim lighting.
7. Currently, there is no known treatment for Stargardt's disease.
8. Pattern ERG is completely extinguished, even when central vision is good. The full-field ERG is usually normal.”
A macular hole