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Stickler syndrome, type I, nonsyndromic ocular

MedGen UID:
322820
Concept ID:
C1836080
Disease or Syndrome
Synonyms: STICKLER SYNDROME, ATYPICAL; STICKLER SYNDROME, TYPE I, PREDOMINANTLY OCULAR
 
Gene (location): COL2A1 (12q13.11)
 
Monarch Initiative: MONDO:0012287
OMIM®: 609508

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Rhegmatogenous retinal detachment
MedGen UID:
489829
Concept ID:
C0271055
Finding
A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.
Optically empty vitreous
MedGen UID:
892643
Concept ID:
C4073118
Anatomical Abnormality
Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.

Recent clinical studies

Diagnosis

Rossenwasser-Weiss S, Orenstein N, Zahavi A, Goldenberg-Cohen N
Curr Eye Res 2021 Jul;46(7):1051-1055. Epub 2020 Dec 9 doi: 10.1080/02713683.2020.1855661. PMID: 33295219

Prognosis

Rossenwasser-Weiss S, Orenstein N, Zahavi A, Goldenberg-Cohen N
Curr Eye Res 2021 Jul;46(7):1051-1055. Epub 2020 Dec 9 doi: 10.1080/02713683.2020.1855661. PMID: 33295219

Clinical prediction guides

Rossenwasser-Weiss S, Orenstein N, Zahavi A, Goldenberg-Cohen N
Curr Eye Res 2021 Jul;46(7):1051-1055. Epub 2020 Dec 9 doi: 10.1080/02713683.2020.1855661. PMID: 33295219

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