From HPO
Night blindness- MedGen UID:
- 10349
- •Concept ID:
- C0028077
- •
- Disease or Syndrome
Inability to see well at night or in poor light.
Photopsia- MedGen UID:
- 43219
- •Concept ID:
- C0085635
- •
- Disease or Syndrome
Perceived flashes of light.
Central scotoma- MedGen UID:
- 57750
- •Concept ID:
- C0152191
- •
- Finding
An area of depressed vision located at the point of fixation and that interferes with central vision.
Color vision defect- MedGen UID:
- 115964
- •Concept ID:
- C0234629
- •
- Finding
An anomaly in the ability to discriminate between or recognize colors.
Reduced visual acuity- MedGen UID:
- 65889
- •Concept ID:
- C0234632
- •
- Finding
Diminished clarity of vision.
Constriction of peripheral visual field- MedGen UID:
- 68613
- •Concept ID:
- C0235095
- •
- Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
Preretinal fibrosis- MedGen UID:
- 87388
- •Concept ID:
- C0339543
- •
- Anatomical Abnormality
An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy.
Blurred vision- MedGen UID:
- 91020
- •Concept ID:
- C0344232
- •
- Finding
Lack of sharpness of vision resulting in the inability to see fine detail.
Ring scotoma- MedGen UID:
- 140951
- •Concept ID:
- C0438434
- •
- Finding
An annular field defect centered on fixation.
Retinal atrophy- MedGen UID:
- 101075
- •Concept ID:
- C0521694
- •
- Disease or Syndrome
Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
Optic disc pallor- MedGen UID:
- 108218
- •Concept ID:
- C0554970
- •
- Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Geographic atrophy- MedGen UID:
- 323488
- •Concept ID:
- C1536085
- •
- Disease or Syndrome
Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.
Peripapillary atrophy- MedGen UID:
- 473480
- •Concept ID:
- C1719838
- •
- Pathologic Function
Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.
Bone spicule pigmentation of the retina- MedGen UID:
- 323029
- •Concept ID:
- C1836926
- •
- Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Visual field defect- MedGen UID:
- 854603
- •Concept ID:
- C3887875
- •
- Finding
An absolute or relative reduction in the extent of the normal field of vision.
Macular crystals- MedGen UID:
- 892788
- •Concept ID:
- C4072988
- •
- Finding
Crystalline deposits in the macula.
Rod-cone dystrophy- MedGen UID:
- 1632921
- •Concept ID:
- C4551714
- •
- Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.