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Items: 15

1.

Foveal hypoplasia 1 with or without anterior segment anomalies

MedGen UID:
866094
Concept ID:
C4017657
Finding
2.

COLOBOMA, OCULAR, INCLUDED (1 patient)

MedGen UID:
866083
Concept ID:
C4017646
Finding
3.

FOVEAL HYPOPLASIA 1 WITH ANTERIOR SEGMENT ANOMALIES

MedGen UID:
865507
Concept ID:
C4017070
Finding
4.

COLOBOMA OF OPTIC NERVE (1 patient)

MedGen UID:
865506
Concept ID:
C4017069
Finding
5.

MORNING GLORY DISC ANOMALY (1 patient)

MedGen UID:
865505
Concept ID:
C4017068
Finding
6.

Foveal hypoplasia 1 with cataract

MedGen UID:
865504
Concept ID:
C4017067
Finding
7.

Aniridia, atypical

MedGen UID:
865503
Concept ID:
C4017066
Finding
8.

Autosomal dominant keratitis

Opacification and vascularization of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia. [from SNOMEDCT_US]

MedGen UID:
865502
Concept ID:
C4017065
Disease or Syndrome; Finding
9.

FOVEAL HYPOPLASIA 1

MedGen UID:
811934
Concept ID:
C3805604
Disease or Syndrome
10.

Cataracts, congenital, with late-onset corneal dystrophy

MedGen UID:
811679
Concept ID:
C3805349
Congenital Abnormality; Disease or Syndrome
11.

Optic nerve aplasia, bilateral

MedGen UID:
331589
Concept ID:
C1833798
Disease or Syndrome
12.

Optic nerve hypoplasia, bilateral

A congenital abnormality characterized by the underdevelopment of both optic nerves. [from NCI]

MedGen UID:
322281
Concept ID:
C1833797
Disease or Syndrome
13.

Aniridia, cerebellar ataxia, and mental retardation

Gillespie syndrome is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016). [from OMIM]

MedGen UID:
96563
Concept ID:
C0431401
Disease or Syndrome
14.

Irido-corneo-trabecular dysgenesis

Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Patients with ASGD5 have been reported with the Peters anomaly, Axenfeld anomaly, and Rieger anomaly subtypes. Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906). It occurs as an isolated ocular abnormality or in association with other ocular defects. In Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by Smith and Traboulsi, 2012). [from OMIM]

MedGen UID:
91031
Concept ID:
C0344559
Congenital Abnormality
15.

Congenital aniridia

Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).People with aniridia can also have other eye problems. Increased pressure in the eye (glaucoma) typically appears in late childhood or early adolescence. Clouding of the lens of the eye (cataracts), occur in 50 percent to 85 percent of people with aniridia. In about 10 percent of affected people, the structures that carry information from the eyes to the brain (optic nerves) are underdeveloped. Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals. The severity of symptoms is typically the same in both eyes.Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.
[from GHR]

MedGen UID:
1941
Concept ID:
C0003076
Congenital Abnormality
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