Van gen naar ziekte; amaurosis congenita van Leber

S Yzer; L I van den Born; F P M Cremers; A I den Hollander

Van gen naar ziekte; amaurosis congenita van Leber

Translated title of the contribution: From gene to disease; Leber congenital amaurosis (LCA)

S Yzer, L I van den Born, F P M Cremers, A I den Hollander

Medical retina and Uveitis

Research output: Contribution to journal › Review article › peer-review

Abstract

LCA is a severe retinal dystrophy characterised by an onset of symptoms before the age of 6 months, visual acuity below 201/400, searching nystagmus, sluggish pupillary reactions and no detectable responses on electrography. The visual fields are usually not measurable. LCA is genetically heterogeneous and is usually inherited in an autosomal recessive fashion. Seven genes have been reported to be mutated in LCA patients (AIPL1, CRB1, CRX, GUCY2D, RDH12, RPE65 and RPGRIP1). Each gene is responsible for a fraction of LCA patients. Mutations in these seven genes are estimated to underlie approximately 40-50% of LCA cases. Molecular genetic research is crucial to unravel the remaining genetic causes of this disabling disease.

Translated title of the contribution	From gene to disease; Leber congenital amaurosis (LCA)
Original language	Dutch
Pages (from-to)	2334-7
Number of pages	4
Journal	Nederlands Tijdschrift voor Geneeskunde
Volume	149
Issue number	42
Publication status	Published - 15 Oct 2005

Cite this

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title = "Van gen naar ziekte; amaurosis congenita van Leber",

abstract = "LCA is a severe retinal dystrophy characterised by an onset of symptoms before the age of 6 months, visual acuity below 201/400, searching nystagmus, sluggish pupillary reactions and no detectable responses on electrography. The visual fields are usually not measurable. LCA is genetically heterogeneous and is usually inherited in an autosomal recessive fashion. Seven genes have been reported to be mutated in LCA patients (AIPL1, CRB1, CRX, GUCY2D, RDH12, RPE65 and RPGRIP1). Each gene is responsible for a fraction of LCA patients. Mutations in these seven genes are estimated to underlie approximately 40-50% of LCA cases. Molecular genetic research is crucial to unravel the remaining genetic causes of this disabling disease.",

keywords = "Blindness/genetics, Electroretinography, Genes, Recessive, Humans, Mutation, Optic Atrophy, Hereditary, Leber/genetics, Retinal Degeneration/genetics, Visual Acuity",

author = "S Yzer and {van den Born}, {L I} and Cremers, {F P M} and {den Hollander}, {A I}",

year = "2005",

month = oct,

day = "15",

language = "Nederlands",

volume = "149",

pages = "2334--7",

number = "42",

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TY - JOUR

T1 - Van gen naar ziekte; amaurosis congenita van Leber

AU - Yzer, S

AU - van den Born, L I

AU - Cremers, F P M

AU - den Hollander, A I

PY - 2005/10/15

Y1 - 2005/10/15

N2 - LCA is a severe retinal dystrophy characterised by an onset of symptoms before the age of 6 months, visual acuity below 201/400, searching nystagmus, sluggish pupillary reactions and no detectable responses on electrography. The visual fields are usually not measurable. LCA is genetically heterogeneous and is usually inherited in an autosomal recessive fashion. Seven genes have been reported to be mutated in LCA patients (AIPL1, CRB1, CRX, GUCY2D, RDH12, RPE65 and RPGRIP1). Each gene is responsible for a fraction of LCA patients. Mutations in these seven genes are estimated to underlie approximately 40-50% of LCA cases. Molecular genetic research is crucial to unravel the remaining genetic causes of this disabling disease.

AB - LCA is a severe retinal dystrophy characterised by an onset of symptoms before the age of 6 months, visual acuity below 201/400, searching nystagmus, sluggish pupillary reactions and no detectable responses on electrography. The visual fields are usually not measurable. LCA is genetically heterogeneous and is usually inherited in an autosomal recessive fashion. Seven genes have been reported to be mutated in LCA patients (AIPL1, CRB1, CRX, GUCY2D, RDH12, RPE65 and RPGRIP1). Each gene is responsible for a fraction of LCA patients. Mutations in these seven genes are estimated to underlie approximately 40-50% of LCA cases. Molecular genetic research is crucial to unravel the remaining genetic causes of this disabling disease.

KW - Blindness/genetics

KW - Electroretinography

KW - Genes, Recessive

KW - Humans

KW - Mutation

KW - Optic Atrophy, Hereditary, Leber/genetics

KW - Retinal Degeneration/genetics

KW - Visual Acuity

M3 - Artikel recenseren

C2 - 16261712

SN - 0028-2162

VL - 149

SP - 2334

EP - 2337

JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

IS - 42

ER -

Van gen naar ziekte; amaurosis congenita van Leber

Abstract

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