Achromatopsia

A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.

Retinopathy

Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.


Total: 5

                       


(per page)
PMID (PMCID)
30260717
 MALE Child
Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy.
Pasutto F, Ekici A, Reis A, Kremers J, Huchzermeyer C.
Ophthalmic Genet. 2018;39(6):741-748.
A variety of diseases can be the underlying cause, including hereditary optic atrophy, Leber's congenital amaurosis (LCA), achromatopsia, and calcium channel, voltage-dependent, L-type, alpha-1F subunit gene (CACNA1F)-associated retinopathy (most widely known as incomplete congenital stationary night blindness: iCSNB).
26417729
 OTHER
Novel retinopathy in related Gordon setters: a clinical, behavioral, electrophysiological, and genetic investigation.
Good KL, Komaromy AM, Kass PH, Ofri R.
Vet Ophthalmol. 2016;19(5):398-408.
This report describes a novel retinopathy in related Gordon setters that has clinical signs and vision testing results consistent with achromatopsia but electroretinographic results suggestive of cone-rod dystrophy.
21708377
 MALE Middle Aged
High-resolution optical coherence tomography findings in solar maculopathy and the differential diagnosis of outer retinal holes.
Comander J, Gardiner M, Loewenstein J.
Am J Ophthalmol. 2011;152(3):413-419.e6.
Similar OCT findings can be caused by welder's maculopathy, tamoxifen retinopathy, juxtafoveal macular telangiectasia, foveolar vitreomacular traction, or, rarely, a closed macular hole, achromatopsia, alkyl nitrite abuse, acute retinal pigment epitheliitis, or Stargardt disease.
7643484
 MALE Adult
Association of acquired color vision defects in blue cone monochromatism.
Terasaki H, Miyake Y.
Jpn J Ophthalmol. 1995;39(1):55-9.
Diabetic retinopathy most likely caused significant reduction of the psychophysical blue cone function and resulted in clinical findings similar to rod monochromatism.
1513061
 MIXED_SAMPLE Child
Japanese family with blue cone monochromatism.
Terasaki H, Miyake Y.
Jpn J Ophthalmol. 1992;36(2):132-41.
He had diabetic retinopathy and moderate cataract which were thought to disturb his blue cone function, causing apparent rod monochromatism.