Table 3.

Other CACNA1F-Related Disorders to Consider in the Differential Diagnosis of X-Linked Congenital Stationary Night Blindness

CACNA1F-Related (Allelic) DisorderClinical Features of Allelic Disorder
Overlapping w/X-linked CSNBDistinguishing from X-linked CSNB
Åland Island eye disease (AIED; Forsius-Eriksson syndrome) 1

(OMIM 300600)
  • Significant phenotypic overlap between AIED & CSNB2A
  • Retinal disorder
  • ↓ visual acuity
  • Nystagmus
  • Astigmatism
  • Defective dark adaptation
  • ERG reveals abnormalities in both photopic & scotopic functions.
  • Fundus hypopigmentation
  • Myopia is progressive.
  • Protan color vision defect
X-linked cone-rod dystrophy (CORDX3) 2

(OMIM 300476)
  • Several features of CSNB2A
  • Modest progressive dysfunction of photoreceptors
Variable features incl:
  • Constricted visual fields
  • Central scotomas
  • General ↓ of sensitivity in central field
  • Red/green or red color defects
X-linked retinal disorder 3Clinical & ERG similarities to CSNB2A
  • Intellectual disability
  • Manifestations in heterozygous female (attributed to unique gain-of-function missense variant in CACNA1F) 4

CSNB = congenital stationary night blindness; CSNB2A = CSNB caused by a pathogenic variant in CACNA1F; ERG = electroretinogram

1.

A novel pathogenic variant in CACNA1F has been identified in affected individuals from the original family with AIED [Jalkanen et al 2007].

2.

A pathogenic variant in CACNA1F has been identified in one Finnish family [Jalkanen et al 2006].

3.

Described in a large Maori family [Hope et al 2005]

4.

From: X-Linked Congenital Stationary Night Blindness

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.