DeCS

Descriptor English:

Leber Congenital Amaurosis

Descriptor Spanish:

Amaurosis Congénita de Leber

Spanish from Spain

Descriptor

amaurosis congénita de Leber

Scope note:

Rara enfermedad ocular hereditaria degenerativa que aparece en el nacimiento o en los primeros meses de vida y que conduce a una pérdida de la visión. No debe confundirse con la NEUROPATÍA ÓPTICA HEREDITARIA DE LEBER. La enfermedad se cree que es causada por el desarrollo anormal de las CÉLULAS FOTORRECEPTORAS en la RETINA o por la degeneración extremadamente prematura de las células retinianas.

Descriptor Portuguese:

Amaurose Congênita de Leber

Descriptor French:

Amaurose congénitale de Leber

Entry term(s):

Abiotrophies, Leber
Abiotrophy, Leber
Amauroses, Leber Congenital
Amauroses, Leber's
Amaurosis, Leber Congenital
Amaurosis, Leber's
Blindness, Congenital Retinal
Blindnesses, Congenital Retinal
Congenital Amauroses, Leber
Congenital Amaurosis of Retinal Origin
Congenital Amaurosis, Leber
Congenital Retinal Blindness
Congenital Retinal Blindnesses
Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia of Retina
Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis
Leber Abiotrophies
Leber Abiotrophy
Leber Amaurosis
Leber Congenital Amauroses
Leber Congenital Tapetoretinal Degeneration
Leber's Amauroses
Leber's Amaurosis
Lebers Amaurosis
Retinal Blindnesses, Congenital

Tree number(s):

C11.270.516
C11.768.364

RDF Unique Identifier:

https://id.nlm.nih.gov/mesh/D057130

Scope note:

A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.

Allowable Qualifiers:

BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology

Concept UI	M0534720
Scope note	A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.
Preferred term	Leber Congenital Amaurosis
Entry term(s)	Abiotrophies, Leber Abiotrophy, Leber Amauroses, Leber Congenital Amauroses, Leber's Amaurosis, Leber Congenital Amaurosis, Leber's Blindness, Congenital Retinal Blindnesses, Congenital Retinal Congenital Amauroses, Leber Congenital Amaurosis, Leber Congenital Retinal Blindness Congenital Retinal Blindnesses Leber Abiotrophies Leber Abiotrophy Leber Amaurosis Leber Congenital Amauroses Leber Congenital Tapetoretinal Degeneration Leber's Amauroses Leber's Amaurosis Lebers Amaurosis Retinal Blindnesses, Congenital

Concept UI	M0584400
Preferred term	Congenital Amaurosis of Retinal Origin
Entry term(s)	Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis

We want your feedback on the new DeCS / MeSH website

We invite you to complete a survey that will take no more than 3 minutes.