Night Blindness, Congenital Stationary, Type 1H

Alternative Names

  • CSNB1H
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

OMIM Number

617024

Gene Map Locus

12p13.31

Description

Congenital stationary night blindness type 1H is an unusual and unique stationary retinal disorder with a dual anomaly in visual processing, characterized by a partial or severe degree of ON bipolar dysfunction and variably reduced cone sensitivity. Patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
617024.1.1LebanonMaleYesNo Nyctalopia; Mildly reduced visual acuityNM_002075.4:c.1017G>A, NM_002075.4:c.170_172delHeterozygousAutosomal, RecessiveVincent et al. 2016 Proband born to a Le...
617024.1.2LebanonMaleYesNo Nyctalopia; Mildly reduced visual acuityNM_002075.4:c.1017G>A, NM_002075.4:c.170_172delHeterozygousAutosomal, RecessiveVincent et al. 2016 Brother of 617024.1....
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