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Items: 7

1.

Juvenile retinoschisis

X-linked congenital retinoschisis (XLRS) is characterized by symmetric bilateral macular involvement with onset in the first decade of life, in some cases as early as age three months. Fundus examination shows areas of schisis (splitting of the nerve fiber layer of the retina) in the macula, sometimes giving the impression of a spoke wheel pattern. Schisis of the peripheral retina, predominantly inferotemporally, occurs in approximately 50% of individuals. Affected males typically have 20/60 to 20/120 vision. Visual acuity often deteriorates during the first and second decades of life but then remains relatively stable until the fifth or sixth decade. [from GeneReviews]

MedGen UID:
811458
Concept ID:
C3714753
Disease or Syndrome
2.

Congenital stationary night blindness 2A

X-linked congenital stationary night blindness (CSNB) is characterized by non-progressive retinal findings of reduced visual acuity ranging from 20/30 to 20/200; defective dark adaptation; refractive error, most typically myopia ranging from low (-0.25 diopters [D] to -4.75 D) to high (=-10.00 D) but occasionally hyperopia; nystagmus; strabismus; normal color vision; and normal fundus examination. Characteristic ERG findings can help distinguish between complete X-linked CSNB and incomplete X-linked CSNB. [from GeneReviews]

MedGen UID:
376299
Concept ID:
C1848172
Disease or Syndrome
3.

Cone-rod synaptic disorder, congenital nonprogressive

Congenital nonprogressive cone-rod synaptic disorder (CRSD) is characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. Electroretinography shows an electronegative waveform response to scotopic bright flash, near-normal to subnormal rod function, and delayed and/or decreased to nonrecordable cone responses (Traboulsi, 2013; Khan, 2014). [from OMIM]

MedGen UID:
874422
Concept ID:
C4041558
Disease or Syndrome
4.

Cone-rod dystrophy 3

Cone-rod dystrophy-3 (CORD3) is an autosomal recessive, clinically heterogeneous retinal disorder with typical findings of reduced visual acuity, impairment of the central visual field, color vision deficits, and fundoscopic evidence of maculopathy, with no or few midperipheral retinal pigment deposits. Cone degeneration appears early in life with a central involvement of the retina, followed by a degeneration of rods several years later (summary by Klevering et al., 2002 and Ducroq et al., 2002). Both cone and rod a- and b-wave electroretinogram (ERG) amplitudes are reduced (Fishman et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. [from OMIM]

MedGen UID:
349030
Concept ID:
C1858806
Disease or Syndrome
5.

Retinal cone dystrophy 4

Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene. [from MONDO]

MedGen UID:
355308
Concept ID:
C1864849
Disease or Syndrome
6.

Congenital stationary night blindness 1F

Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus).

The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time. [from MedlinePlus Genetics]

MedGen UID:
767313
Concept ID:
C3554399
Disease or Syndrome
7.

Electronegative electroretinogram

A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source [from HPO]

MedGen UID:
867203
Concept ID:
C4021561
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