From HPO
Arcus senilis- MedGen UID:
- 8179
- •Concept ID:
- C0003742
- •
- Finding
A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.
Astigmatism- MedGen UID:
- 2473
- •Concept ID:
- C0004106
- •
- Disease or Syndrome
Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by Clementi et al., 1998).
Glaucoma- MedGen UID:
- 42224
- •Concept ID:
- C0017601
- •
- Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Lens subluxation- MedGen UID:
- 9718
- •Concept ID:
- C0023316
- •
- Disease or Syndrome
Partial dislocation of the lens of the eye.
Miosis- MedGen UID:
- 6409
- •Concept ID:
- C0026205
- •
- Disease or Syndrome
Abnormal (non-physiological) constriction of the pupil.
Retinal detachment- MedGen UID:
- 19759
- •Concept ID:
- C0035305
- •
- Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Reduced visual acuity- MedGen UID:
- 65889
- •Concept ID:
- C0234632
- •
- Finding
Diminished clarity of vision.
Megalocornea- MedGen UID:
- 138008
- •Concept ID:
- C0344530
- •
- Congenital Abnormality
Megalocornea is an inherited eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as 'anterior megalophthalmos,' since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. X-linked recessive inheritance is the most common pattern, accounting for the male preponderance of the disorder (summary by Skuta et al., 1983).
Megalocornea sometimes occurs as part of the Marfan syndrome (154700).
Genetic Heterogeneity of Megalocornea
Autosomal recessive megalocornea has been reported (249300).
Deep anterior chamber- MedGen UID:
- 602219
- •Concept ID:
- C0423280
- •
- Finding
Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.
Iridodonesis- MedGen UID:
- 451052
- •Concept ID:
- C0423320
- •
- Disease or Syndrome
Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.
Abnormal intraocular pressure- MedGen UID:
- 636377
- •Concept ID:
- C0520999
- •
- Finding
An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.
Iris transillumination defect- MedGen UID:
- 786045
- •Concept ID:
- C1096099
- •
- Anatomical Abnormality
Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.
Decreased corneal thickness- MedGen UID:
- 473349
- •Concept ID:
- C1096274
- •
- Finding
A decreased anteroposterior thickness of the cornea.
Mosaic corneal dystrophy- MedGen UID:
- 870342
- •Concept ID:
- C4024786
- •
- Disease or Syndrome