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Items: 9

1.

Autosomal dominant optic atrophy classic form

Optic atrophy type 1 (OPA1, or Kjer type optic atrophy) is characterized by bilateral and symmetric optic nerve pallor associated with insidious decrease in visual acuity (usually between ages 4 and 6 years), visual field defects, and color vision defects. Visual impairment is usually moderate (6/10 to 2/10), but ranges from mild or even insignificant to severe (legal blindness with acuity <1/20). The visual field defect is typically centrocecal, central, or paracentral; it is often large in those with severe disease. The color vision defect is often described as acquired blue-yellow loss (tritanopia). Other findings can include auditory neuropathy resulting in sensorineural hearing loss that ranges from severe and congenital to subclinical (i.e., identified by specific audiologic testing only). Visual evoked potentials are typically absent or delayed; pattern electroretinogram shows an abnormal N95:P50 ratio. Tritanopia is the classic feature of color vision defect, but more diffuse nonspecific dyschromatopsia is not uncommon. Ophthalmoscopic examination discloses temporal or diffuse pallor of the optic discs, sometimes associated with optic disc excavation. The neuroretinal rim shows some pallor in most cases, sometimes associated with a temporal pigmentary gray crescent. [from GeneReviews]

MedGen UID:
137902
Concept ID:
C0338508
Disease or Syndrome
2.

Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010). [from OMIM]

MedGen UID:
478179
Concept ID:
C3276549
Disease or Syndrome
3.

Retinitis pigmentosa 37

Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene. [from MONDO]

MedGen UID:
410004
Concept ID:
C1970163
Disease or Syndrome
4.

Progressive retinal dystrophy due to retinol transport defect

Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported. [from ORDO]

MedGen UID:
767507
Concept ID:
C3554593
Disease or Syndrome
5.

Cone-rod dystrophy 20

Cone-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.

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.

The 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). [from MedlinePlus Genetics]

MedGen UID:
863293
Concept ID:
C4014856
Disease or Syndrome
6.

Blue color blindness

Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992). [from OMIM]

MedGen UID:
57827
Concept ID:
C0155017
Disease or Syndrome
7.

Optic atrophy 5

OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by Gerber et al., 2017). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). [from OMIM]

MedGen UID:
377837
Concept ID:
C1853139
Disease or Syndrome
8.

Night blindness, congenital stationary, type1i

Congenital stationary night blindness type 1I (CSNB1I) is characterized by night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Older patients may show retinitis pigmentosa-like retinal degeneration (Stunkel et al., 2018). [from OMIM]

MedGen UID:
1684817
Concept ID:
C5231408
Disease or Syndrome
9.

Chromosome 16q12 duplication syndrome

Chromosome 16q12 duplication syndrome is characterized by early-onset progressive cone dystrophy, with early blue cone involvement. Patients report reduced visual acuity in the first decade of life, as well as difficulty differentiating colors, photophobia, and reduced night vision (Kohl et al., 2021). Tritanopia can also be caused by heterozygous mutation in the OPN1SW gene (613522) on chromosome 7q32 (see 190900). [from OMIM]

MedGen UID:
1794292
Concept ID:
C5562082
Disease or Syndrome
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