Congenital stationary night blindness

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Congenital stationary night blindness, Schubert-Bornschein type

ORPHA:714090Disease

Also called CSNB Schubert-Bornstein type

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Age of onset
Neonatal
Inheritance
Autosomal recessive, X-linked recessive
Classified as
Disease

Genes reported in subtypes

CABP4CACNA1FCACNA2D4GPR179GRM6LRIT3TRPM1

Orphanet records these genes on 2 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

ICD-10 codes

H53.6filed under a broader ICD-10 category — shared with 3 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

OMIM 257270OMIM 300071OMIM 300427OMIM 310500OMIM 610445OMIM 610478OMIM 613216OMIM 614565OMIM 615058OMIM 617024

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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