Descriptors Found: 1
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Descriptor English:   Leber Congenital Amaurosis 
Descriptor Spanish:   Amaurosis Congénita de Leber 
Descriptor Portuguese:   Amaurose Congênita de Leber 
Synonyms English:   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:   C11.270.516
Definition English:   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. 
History Note English:   2010 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   53527 
Unique Identifier:   D057130 

Occurrence in VHL: