ORPHA:397758

Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

Synonyms: Retinal dystrophy with inner nuclear layer and ganglion cell anomalies

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Adult
Status: active

Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	Retinal dystrophy with inner nuclear layer and ganglion cell anomalies
fr	Dystrophie rétinienne avec anomalies de la couche nucléaire interne et des cellules ganglionnaires
de	Netzhautdystrophie mit Dysfunktion der inneren Retina und Ganglienzellanomalien
es	Distrofia retiniana con disfunción retiniana interna y anomalías de las células ganglionares	Distrofia retiniana con anomalías de la capa nuclear interna y de las células ganglionares
it	Distrofia retinica con disfunzione della retina interna e anomalie delle cellule gangliari	Distrofia retinica con strato nucleare interno e anomalie delle cellule gangliari
nl	Retinadystrofie met disfunctie van inwendige retina en anomalieën van ganglioncellen	Retinadystrofie met anomalieën van binnenste nucleaire laag en ganglioncellen
pt	Distrofia da retina com disfunção retiniana interna e anomalias das células ganglionares
pl	Dystrofia siatkówki z dysfunkcją siatkówki wewnętrznej i anomaliami komórek zwojowych	Dystrofia siatkówki z anomaliami warstwy jądrowej wewnętrznej i komórek zwojowych
cs	Retinální dystrofie s vnitřní retinální dysfunkcí a anomáliemi gangliových buněk	Retinální dystrofie s anomáliemi vnitřní nukleární vrstvy a gangliových buněk
uk	Дистрофія сітківки з внутрішньою дисфункцією сітківки та аномаліями гангліозних клітин	Дистрофія сітківки з аномаліями внутрішнього ядерного шару та гангліозних клітин
zh	视网膜营养不良伴视网膜功能障碍和神经节细胞异常	视网膜营养不良伴内核层和神经节细胞异常
tr	İç retina disfonksiyonu ve ganglion hücre anomali ile seyreden retina distrofisi	İç çekirdek tabaka ve ganglion hücre anomalileri ile seyreden retina distrofisi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	616079	E		validated
ICD-10	H35.5	NTBT	attributed	validated
ICD-11	9B70	NTBT	attributed	validated
MONDO	0014483	E		validated
UMLS	C4751571	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97966Rare ophthalmic disorder

Parents in the classifications (1):

ORPHA:717324Rare genetic isolated progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ITM2B	Disease-causing germline mutation(s) in	Assessed	HGNC:6174	ENSG00000136156	603904	13q14.2	integral membrane protein 2B	24026677[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		14 cases	Worldwide	Case(s)	Validated	24026677[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_24026677[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/397758
This record as JSON: /data/d/397758.json