type AD1 night blindness

Night Blindness, Congenital Stationary, CSNBAD1

Clinical Characteristics
Ocular Features: 

Night blindness is a feature of many pigmentary and other retinal disorders, most of which are progressive.  However, there is also a group of genetically heterogeneous disorders, with generally stable scotopic defects and without RPE changes, known as congenital stationary night blindness (CSNB).  At least 10 mutant genes are responsible with phenotypes so similar that genotyping is usually necessary to distinguish them.  All are caused by defects in visual signal transduction within rod photoreceptors or in defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.  The photopic ERG is usually abnormal to some degree as well and visual acuity may be subnormal.  In the pregenomic era, subtleties of ERG responses were frequently used in an attempt to distinguish different forms of CSNB.  Genotyping now enables classification with unprecedented precision.

Congenital stationary night blindness disorders are primarily rod dystrophies presenting early with symptoms of nightblindness and relative sparing of central vision.  Nystagmus and photophobia are usually not features.  Dyschromatopsia and loss of central acuity can develop later as the cones eventually become dysfunctional as well but these symptoms are much less severe than those seen in cone-rod dystrophies.  The amount of pigmentary retinopathy is highly variable. 

In this disorder (CSNBAD1), one of three autosomal dominant CSNB conditions, the b-wave responses are absent (no scotopic response) with some a-wave decrease in amplitude under dark adapted conditions.  Night vision in dim conditions may be reduced but not with bright backgrounds.  Daytime vision is normal as is color vision.  Older patients can have peripheral bone-spicule pigmentary changes with visual field restriction and narrowing of retinal arterioles.

Systemic Features: 

No systemic disease is associated with congenital stationary night blindness.

Genetics

CSNBAD1, or type AD1, is one of three congenital nightblindness disorders with autosomal dominant inheritance.  It results from mutations in the RHO (3q21-q24) gene coding rhodopsin.

Other autosomal dominant CSNB disorders are: CSNBAD2 (163500) and CSNBAD3 (610444).  Three CSNB disorders are transmitted in an autosomal recessive pattern and 2 as X-linked recessives.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

No treatment beyond correction of the refractive error is available but tinted lenses are sometimes used to enhance vision.

References
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