Congenital nystagmus

Gene: LRAT

I don't know

The LCA phenotype is typically associated with nystagmus, at least two reports.

Created: 25 Oct 2021, 7 a.m. | Last Modified: 25 Oct 2021, 7 a.m.

Panel Version: 0.78

Phenotypes
Leber congenital amaurosis 14, MIM#613341

Red List (low evidence)

NOTE: same MIM# for all 3 phenotypes

Majority of reports either presented later in life or none at all. >20 individuals reported with variants in LRAT.
Below are reports mentioning nystagmus

PMID:11381255;
25-year-old man who had nystagmus (age of onset unclear?) and was diagnosed with retinal degeneration at age 3.

PMID:18055821;
1x LCA (onset of nystagmus within the first few weeks of life) and 1x RP (age of onset not provided - diagnostic criteria is <6 yrs old)

PMID:22570351
1x developing later in life

PMID;31448181;
1x light-gazing and nystagmus were noticed by the parents during the first months of life.

Created: 25 Oct 2021, 12:17 a.m. | Last Modified: 25 Oct 2021, 12:17 a.m.

Panel Version: 0.31

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 14 MIM#613341; Retinal dystrophy, early-onset severe MIM#613341; Retinitis pigmentosa, juvenile MIM#613341

Publications

• 11381255
• 18055821
• 22570351
• 17011878
• 29973277
• 24625443
• 22559933
• 31448181

Variants in this GENE are reported as part of current diagnostic practice