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Cone-rod synaptic disorder, congenital nonprogressive(CRSD; CSNB2B, FORMERLY)

MedGen UID:
874422
Concept ID:
C4041558
Disease or Syndrome
Synonyms: Congenital stationary night blindness, type 2B; NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE
 
Gene (location): CABP4 (11q13.2)
 
Monarch Initiative: MONDO:0012490
OMIM®: 610427

Definition

Congenital nonprogressive cone-rod synaptic disorder (CRSD) is characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. Electroretinography shows an electronegative waveform response to scotopic bright flash, near-normal to subnormal rod function, and delayed and/or decreased to nonrecordable cone responses (Traboulsi, 2013; Khan, 2014). [from OMIM]

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.

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).  https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-stationary-night-blindness

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
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.
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.
Color vision defect
MedGen UID:
115964
Concept ID:
C0234629
Finding
An anomaly in the ability to discriminate between or recognize colors.
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

Recent clinical studies

Diagnosis

Tan JK, Arno G, Josifova D, Mohamed MD, Mahroo OA
Doc Ophthalmol 2024 Apr;148(2):115-120. Epub 2024 Jan 11 doi: 10.1007/s10633-023-09961-8. PMID: 38206458Free PMC Article
Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, Dueñas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Bézière A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, Perrault I
Am J Hum Genet 2020 Jun 4;106(6):859-871. Epub 2020 May 28 doi: 10.1016/j.ajhg.2020.04.018. PMID: 32470375Free PMC Article

Clinical prediction guides

Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, Dueñas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Bézière A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, Perrault I
Am J Hum Genet 2020 Jun 4;106(6):859-871. Epub 2020 May 28 doi: 10.1016/j.ajhg.2020.04.018. PMID: 32470375Free PMC Article
Kondo M, Das G, Imai R, Santana E, Nakashita T, Imawaka M, Ueda K, Ohtsuka H, Sakai K, Aihara T, Kato K, Sugimoto M, Ueno S, Nishizawa Y, Aguirre GD, Miyadera K
PLoS One 2015;10(9):e0137072. Epub 2015 Sep 14 doi: 10.1371/journal.pone.0137072. PMID: 26368928Free PMC Article

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