Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies(RDGCA)

MedGen UID:: 863583
•Concept ID:: C4015146
•: Disease or Syndrome

Synonym:	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	ITM2B (13q14.2)

Monarch Initiative:	MONDO:0014483
OMIM®:	616079
Orphanet:	ORPHA397758

Definition

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. [from ORDO]

Clinical features

From HPO

Photophobia

MedGen UID:: 43220
•Concept ID:: C0085636
•: Sign or Symptom

Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.

See: Feature record | Search on this feature

Night blindness

MedGen UID:: 10349
•Concept ID:: C0028077
•: Disease or Syndrome

Inability to see well at night or in poor light.

See: Feature record | Search on this feature

Central scotoma

MedGen UID:: 57750
•Concept ID:: C0152191
•: Finding

An area of depressed vision located at the point of fixation and that interferes with central vision.

See: Feature record | Search on this feature

Reduced visual acuity

MedGen UID:: 65889
•Concept ID:: C0234632
•: Finding

Diminished clarity of vision.

See: Feature record | Search on this feature

Optic disc pallor

MedGen UID:: 108218
•Concept ID:: C0554970
•: Finding

A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.

See: Feature record | Search on this feature

Retinal dystrophy

MedGen UID:: 208903
•Concept ID:: C0854723
•: Finding

Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of the eye
Abnormality of the nervous system
- Photophobia

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRetinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

Abnormal eye morphology
- Abnormal posterior eye segment morphology
  - Abnormal fundus morphology
    - Abnormal retinal morphology
      - Retinal dystrophy
        Hereditary retinal dystrophy
        Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

Recent clinical studies

Etiology

Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM).

Murro V, Mucciolo DP, Giorgio D, Sodi A, Passerini I, Bacci G, Bargiacchi S, Virgili G, Rizzo S
Graefes Arch Clin Exp Ophthalmol 2019 Dec;257(12):2655-2663. Epub 2019 Oct 26 doi: 10.1007/s00417-019-04508-7. PMID: 31654189

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, Saraiva JP, Nguyen H, Luu TD, Léveillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Saïd S, Bhattacharya SS, Sahel JA, Zeitz C
Hum Mol Genet 2014 Jan 15;23(2):491-501. Epub 2013 Sep 10 doi: 10.1093/hmg/ddt439. PMID: 24026677

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

Aleman TS, Soumittra N, Cideciyan AV, Sumaroka AM, Ramprasad VL, Herrera W, Windsor EA, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG
Invest Ophthalmol Vis Sci 2009 Dec;50(12):5944-54. Epub 2009 Jul 2 doi: 10.1167/iovs.09-3982. PMID: 19578027

See all (3)