From HPO
Cystoid macular edema- MedGen UID:
- 7435
- •Concept ID:
- C0024440
- •
- Disease or Syndrome
Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al., 2015).
Night blindness- MedGen UID:
- 10349
- •Concept ID:
- C0028077
- •
- Disease or Syndrome
Inability to see well at night or in poor light.
Optic disc drusen- MedGen UID:
- 14495
- •Concept ID:
- C0029128
- •
- Disease or Syndrome
Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.
Retinal degeneration- MedGen UID:
- 48432
- •Concept ID:
- C0035304
- •
- Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
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.
Subcapsular cataract- MedGen UID:
- 65903
- •Concept ID:
- C0235259
- •
- Finding
A cataract that affects the region of the lens directly beneath the capsule of the lens.
Asteroid hyalosis- MedGen UID:
- 636821
- •Concept ID:
- C0521770
- •
- Disease or Syndrome
The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.
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).
Attenuation of retinal blood vessels- MedGen UID:
- 480605
- •Concept ID:
- C3278975
- •
- Finding
Perifoveal ring of hyperautofluorescence- MedGen UID:
- 892724
- •Concept ID:
- C4073099
- •
- Finding
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.