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Items: 3

1.

Severe early-childhood-onset retinal dystrophy

Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The macula is responsible for the type of vision needed for detailed tasks such as reading, driving, and recognizing faces. In most people with Stargardt macular degeneration, a fatty yellow pigment called lipofuscin builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear vision. People with Stargardt macular degeneration have problems with night vision that can make it difficult to navigate in low light. Some affected individuals also have impaired color vision. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood and worsen over time. [from MedlinePlus Genetics]

MedGen UID:
383691
Concept ID:
C1855465
Disease or Syndrome
2.

Retinitis pigmentosa inversa with deafness

MedGen UID:
341447
Concept ID:
C1849405
Disease or Syndrome
3.

Retinitis pigmentosa inversa

Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery). [from HPO]

MedGen UID:
867201
Concept ID:
C4021559
Disease or Syndrome
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