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Newfoundland cone-rod dystrophy(NFRCD)

MedGen UID:
334840
•Concept ID:
C1843815
•
Disease or Syndrome
Synonym: Newfoundland Rod-Cone Dystrophy
 
Gene (location): RLBP1 (15q26.1)
 
Monarch Initiative: MONDO:0011839
OMIM®: 607476

Definition

Newfoundland rod-cone dystrophy (NFRCD) is a severe retinal dystrophy in which night blindness is present from infancy. Progressive loss of peripheral, central, and color vision begins in childhood and results in severe visual loss by the second to fourth decade of life (Eichers et al., 2002). [from OMIM]

Clinical features

From HPO
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
Scotoma
MedGen UID:
19902
•Concept ID:
C0036454
•
Finding
A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.
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
Color vision defect
MedGen UID:
115964
•Concept ID:
C0234629
•
Finding
An anomaly in the ability to discriminate between or recognize colors.
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
Ring scotoma
MedGen UID:
140951
•Concept ID:
C0438434
•
Finding
An annular field defect centered on fixation.
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
Bone spicule pigmentation of the retina
MedGen UID:
323029
•Concept ID:
C1836926
•
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N
Am J Hum Genet 2002 Apr;70(4):955-64. Epub 2002 Feb 26 doi: 10.1086/339688. PMID: 11868161Free PMC Article

Diagnosis

Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
Hipp S, Zobor G, Glöckle N, Mohr J, Kohl S, Zrenner E, Weisschuh N, Zobor D
Acta Ophthalmol 2015 Jun;93(4):e281-6. Epub 2014 Nov 27 doi: 10.1111/aos.12573. PMID: 25429852
The utility of attention-deficit/hyperactivity disorder screening instruments in individuals seeking treatment for substance use disorders.
Dakwar E, Mahony A, Pavlicova M, Glass A, Brooks D, Mariani JJ, Grabowski J, Levin FR
J Clin Psychiatry 2012 Nov;73(11):e1372-8. doi: 10.4088/JCP.12m07895. PMID: 23218166Free PMC Article

Prognosis

The utility of attention-deficit/hyperactivity disorder screening instruments in individuals seeking treatment for substance use disorders.
Dakwar E, Mahony A, Pavlicova M, Glass A, Brooks D, Mariani JJ, Grabowski J, Levin FR
J Clin Psychiatry 2012 Nov;73(11):e1372-8. doi: 10.4088/JCP.12m07895. PMID: 23218166Free PMC Article
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N
Am J Hum Genet 2002 Apr;70(4):955-64. Epub 2002 Feb 26 doi: 10.1086/339688. PMID: 11868161Free PMC Article

Clinical prediction guides

Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
Hipp S, Zobor G, Glöckle N, Mohr J, Kohl S, Zrenner E, Weisschuh N, Zobor D
Acta Ophthalmol 2015 Jun;93(4):e281-6. Epub 2014 Nov 27 doi: 10.1111/aos.12573. PMID: 25429852
The utility of attention-deficit/hyperactivity disorder screening instruments in individuals seeking treatment for substance use disorders.
Dakwar E, Mahony A, Pavlicova M, Glass A, Brooks D, Mariani JJ, Grabowski J, Levin FR
J Clin Psychiatry 2012 Nov;73(11):e1372-8. doi: 10.4088/JCP.12m07895. PMID: 23218166Free PMC Article
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N
Am J Hum Genet 2002 Apr;70(4):955-64. Epub 2002 Feb 26 doi: 10.1086/339688. PMID: 11868161Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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