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Items: 8

1.

Macular degeneration, X-linked atrophic

MedGen UID:
463134
Concept ID:
C3151784
Disease or Syndrome
2.
3.

Cone-rod dystrophy 20

Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, or X-linked (each of which is described below). Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.
[from GHR]

MedGen UID:
807408
Concept ID:
CN219005
Disease or Syndrome
4.

Cone dystrophy 5, X-linked

MedGen UID:
448380
Concept ID:
CN069543
Disease or Syndrome
5.

Retinitis Pigmentosa 24

MedGen UID:
337549
Concept ID:
C1846277
Disease or Syndrome
6.

Decreased light- and dark-adapted electroretinogram amplitude

Descreased amplitude of eletrical response upon electroretinography. [from HPO]

MedGen UID:
326793
Concept ID:
C1839025
Finding
7.

Retinitis pigmentosa 20

Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease. [from GeneReviews]

MedGen UID:
462436
Concept ID:
C3151086
Disease or Syndrome
8.

Retinitis Pigmentosa 32

MedGen UID:
322781
Concept ID:
C1835927
Disease or Syndrome
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