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Congenital stationary night blindness 2A(CSNB2A)

MedGen UID:
376299
Concept ID:
C1848172
Disease or Syndrome
Synonyms: CSNB, INCOMPLETE, X-LINKED; CSNB2A; Night blindness, congenital stationary (incomplete), 2A, X-linked; NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2
 
Gene (location): CACNA1F (Xp11.23)
 
Monarch Initiative: MONDO:0010241
OMIM®: 300071

Disease characteristics

Excerpted from the GeneReview: X-Linked Congenital Stationary Night Blindness
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]
Authors:
Ian M MacDonald  |  Stephanie Hoang  |  Sari Tuupanen   view full author information

Additional description

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

Researchers have identified two major types of X-linked congenital stationary night blindness: the complete form and the incomplete form. The types have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause and by the results of a test called an electroretinogram, which measures the function of the retina.

X-linked 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 in low light (night blindness). They also have other vision problems, including loss of sharpness (reduced acuity), severe nearsightedness (high myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). Color vision is typically not affected by this disorder.  https://medlineplus.gov/genetics/condition/x-linked-congenital-stationary-night-blindness

Clinical features

From HPO
Exotropia
MedGen UID:
4613
Concept ID:
C0015310
Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
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.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
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
Abnormal amplitude of light-adapted flicker electroretinogram
MedGen UID:
893140
Concept ID:
C4072969
Finding

Recent clinical studies

Etiology

Khan AO, Alrashed M, Alkuraya FS
Br J Ophthalmol 2013 Mar;97(3):262-5. Epub 2012 Oct 25 doi: 10.1136/bjophthalmol-2012-302186. PMID: 23099293
Pietrobon D
Mol Neurobiol 2002 Feb;25(1):31-50. doi: 10.1385/MN:25:1:031. PMID: 11890456
Barnes CS, Alexander KR, Fishman GA
Ophthalmology 2002 Mar;109(3):575-83. doi: 10.1016/s0161-6420(01)00981-2. PMID: 11874764
Potter MJ, Thirkill CE, Dam OM, Lee AS, Milam AH
Ophthalmology 1999 Nov;106(11):2121-5. doi: 10.1016/S0161-6420(99)90493-1. PMID: 10571347

Diagnosis

Di Scipio M, Tavares E, Deshmukh S, Audo I, Green-Sanderson K, Zubak Y, Zine-Eddine F, Pearson A, Vig A, Tang CY, Mollica A, Karas J, Tumber A, Yu CW, Billingsley G, Wilson MD, Zeitz C, Héon E, Vincent A
Invest Ophthalmol Vis Sci 2020 Aug 3;61(10):36. doi: 10.1167/iovs.61.10.36. PMID: 32881472Free PMC Article
Khan AO, Alrashed M, Alkuraya FS
Br J Ophthalmol 2013 Mar;97(3):262-5. Epub 2012 Oct 25 doi: 10.1136/bjophthalmol-2012-302186. PMID: 23099293

Prognosis

Di Scipio M, Tavares E, Deshmukh S, Audo I, Green-Sanderson K, Zubak Y, Zine-Eddine F, Pearson A, Vig A, Tang CY, Mollica A, Karas J, Tumber A, Yu CW, Billingsley G, Wilson MD, Zeitz C, Héon E, Vincent A
Invest Ophthalmol Vis Sci 2020 Aug 3;61(10):36. doi: 10.1167/iovs.61.10.36. PMID: 32881472Free PMC Article

Clinical prediction guides

Di Scipio M, Tavares E, Deshmukh S, Audo I, Green-Sanderson K, Zubak Y, Zine-Eddine F, Pearson A, Vig A, Tang CY, Mollica A, Karas J, Tumber A, Yu CW, Billingsley G, Wilson MD, Zeitz C, Héon E, Vincent A
Invest Ophthalmol Vis Sci 2020 Aug 3;61(10):36. doi: 10.1167/iovs.61.10.36. PMID: 32881472Free PMC Article
Michalakis S, Shaltiel L, Sothilingam V, Koch S, Schludi V, Krause S, Zeitz C, Audo I, Lancelot ME, Hamel C, Meunier I, Preising MN, Friedburg C, Lorenz B, Zabouri N, Haverkamp S, Garcia Garrido M, Tanimoto N, Seeliger MW, Biel M, Wahl-Schott CA
Hum Mol Genet 2014 Mar 15;23(6):1538-50. Epub 2013 Oct 26 doi: 10.1093/hmg/ddt541. PMID: 24163243Free PMC Article
Barnes CS, Alexander KR, Fishman GA
Ophthalmology 2002 Mar;109(3):575-83. doi: 10.1016/s0161-6420(01)00981-2. PMID: 11874764
Potter MJ, Thirkill CE, Dam OM, Lee AS, Milam AH
Ophthalmology 1999 Nov;106(11):2121-5. doi: 10.1016/S0161-6420(99)90493-1. PMID: 10571347

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