U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Congenital stationary night blindness 1F(CSNB1F)

MedGen UID:
767313
Concept ID:
C3554399
Disease or Syndrome
Synonym: Night blindness, congenital stationary (complete), 1F, autosomal recessive
 
Gene (location): LRIT3 (4q25)
 
Monarch Initiative: MONDO:0014026
OMIM®: 615058

Definition

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]

Clinical features

From HPO
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Retinal perforation
MedGen UID:
48435
Concept ID:
C0035321
Disease or Syndrome
A small hole through the whole thickness of the retina.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
High myopia
MedGen UID:
78759
Concept ID:
C0271183
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
Congenital stationary night blindness
MedGen UID:
83289
Concept ID:
C0339535
Congenital Abnormality
A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.
Electronegative electroretinogram
MedGen UID:
867203
Concept ID:
C4021561
Finding
A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source

Recent clinical studies

Etiology

Chen RW, Greenberg JP, Lazow MA, Ramachandran R, Lima LH, Hwang JC, Schubert C, Braunstein A, Allikmets R, Tsang SH
Am J Ophthalmol 2012 Jan;153(1):143-54.e2. Epub 2011 Sep 13 doi: 10.1016/j.ajo.2011.06.018. PMID: 21920492Free PMC Article

Diagnosis

Wyględowska-Promieńska D, Świerczyńska M, Śpiewak D, Pojda-Wilczek D, Tronina A, Dorecka M, Smędowski A
Int J Mol Sci 2024 Mar 2;25(5) doi: 10.3390/ijms25052928. PMID: 38474172Free PMC Article
Pasutto F, Ekici A, Reis A, Kremers J, Huchzermeyer C
Ophthalmic Genet 2018 Dec;39(6):741-748. Epub 2018 Sep 27 doi: 10.1080/13816810.2018.1520263. PMID: 30260717
Chen RW, Greenberg JP, Lazow MA, Ramachandran R, Lima LH, Hwang JC, Schubert C, Braunstein A, Allikmets R, Tsang SH
Am J Ophthalmol 2012 Jan;153(1):143-54.e2. Epub 2011 Sep 13 doi: 10.1016/j.ajo.2011.06.018. PMID: 21920492Free PMC Article
Vincent A, Wright T, Day MA, Westall CA, Héon E
Mol Vis 2011;17:3262-70. Epub 2011 Dec 15 PMID: 22194652Free PMC Article

Prognosis

Pasutto F, Ekici A, Reis A, Kremers J, Huchzermeyer C
Ophthalmic Genet 2018 Dec;39(6):741-748. Epub 2018 Sep 27 doi: 10.1080/13816810.2018.1520263. PMID: 30260717

Clinical prediction guides

Wyględowska-Promieńska D, Świerczyńska M, Śpiewak D, Pojda-Wilczek D, Tronina A, Dorecka M, Smędowski A
Int J Mol Sci 2024 Mar 2;25(5) doi: 10.3390/ijms25052928. PMID: 38474172Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...