From HPO
Photophobia- MedGen UID:
- 43220
- •Concept ID:
- C0085636
- •
- Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Enamel agenesis- MedGen UID:
- 1778102
- •Concept ID:
- C5442008
- •
- Congenital Abnormality
Complete or almost complete absence of enamel.
Carious teeth- MedGen UID:
- 8288
- •Concept ID:
- C0011334
- •
- Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Yellow-brown discoloration of the teeth- MedGen UID:
- 350813
- •Concept ID:
- C1863008
- •
- Finding
Night blindness- MedGen UID:
- 10349
- •Concept ID:
- C0028077
- •
- Disease or Syndrome
Inability to see well at night or in poor light.
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Scotoma- MedGen UID:
- 19902
- •Concept ID:
- C0036454
- •
- Finding
A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.
Pendular nystagmus- MedGen UID:
- 78770
- •Concept ID:
- C0271388
- •
- Disease or Syndrome
Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
Macular atrophy- MedGen UID:
- 140841
- •Concept ID:
- C0423421
- •
- Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, 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.
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).
Hyperopia, high- MedGen UID:
- 341009
- •Concept ID:
- C1855925
- •
- Finding
A severe form of hypermetropia with over +5.00 diopters.
Retinal pigment epithelial mottling- MedGen UID:
- 347513
- •Concept ID:
- C1857644
- •
- Finding
Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.
Attenuation of retinal blood vessels- MedGen UID:
- 480605
- •Concept ID:
- C3278975
- •
- Finding
Visual impairment- MedGen UID:
- 777085
- •Concept ID:
- C3665347
- •
- Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Cone-rod dystrophy- MedGen UID:
- 896366
- •Concept ID:
- C4085590
- •
- Disease or Syndrome
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, and X-linked. 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.\n\nThe 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).\n\nCone-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.
Monochromacy- MedGen UID:
- 1684677
- •Concept ID:
- C5201048
- •
- Disease or Syndrome
Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.
- Abnormality of head or neck
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system