Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Leber congenital amaurosis

Leber congenital amaurosis is a hereditary disorder which is common in several syndromes and stand-alone. It is the severest and early-onset form of retinal dystrophy. It is characterized by functional disturbances of the retina and degeneration of the choroid.

Symptoms

Retinal dystrophy
Leber congenital amaurosis is the severest early-onset form of retinal dystrophy.

Systematic

Ciliopathy
Acrocallosal syndrome
COACH syndrome
Cranioectodermal dysplasia
Joubert syndrome
Leber congenital amaurosis
Leber congenital amaurosis 01
GUCY2D
Leber congenital amaurosis 02
RPE65
Leber congenital amaurosis 03
SPATA7
Leber congenital amaurosis 04
AIPL1
Leber congenital amaurosis 05
LCA5
Leber congenital amaurosis 06
RPGRIP1
Leber congenital amaurosis 07
CRX
Leber congenital amaurosis 08
CRB1
Leber congenital amaurosis 09
NMNAT1
Leber congenital amaurosis 10
CEP290
Leber congenital amaurosis 11
IMPDH1
Leber congenital amaurosis 12
RD3
Leber congenital amaurosis 13
RDH12
Leber congenital amaurosis 14
LRAT
Leber congenital amaurosis 15
TULP1
Leber congenital amaurosis 16
KCNJ13
Leber congenital amaurosis 17
GDF6
Leber congenital amaurosis 18
PRPH2
Left-right axis malformations
Meckel syndrome
Mental retardation, truncal obesity, retinal dystrophy and micropenis
Nephronophthisis
Orofaciodigital syndrome
Primary ciliary dyskinesia 3 with or without situs inversus
Retinitis pigmentosa
Senior-Loken syndrome
Short-rib thoracic dysplasia with or without polydactyly
Simpson-Golabi-Behmel syndrome

References:

1.

Camuzat A et al. (1995) A gene for Leber's congenital amaurosis maps to chromosome 17p.

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2.

Camuzat A et al. (1996) Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.

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3.

Perrault I et al. (1996) Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

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4.

Hanein S et al. (2002) Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.

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5.

Khan AO et al. (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

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6.

Hanein S et al. (2004) Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

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7.

Tan MH et al. (2009) Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.

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8.

Sohocki MM et al. (2000) Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

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9.

Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

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10.

Otto EA et al. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

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11.

Boichis H et al. (1973) Congenital hepatic fibrosis and nephronophthisis. A family study.

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Sayer JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

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13.

Godel V et al. (1979) Retinal manifestations in familial juvenile nephronophthisis.

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Diekmann L et al. (1977) [Familial nephropathy with retinitis pigmentosa and peripheral dysostosis].

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Avasthi PS et al. (1976) Hereditary renal-retinal dysplasia and the medullary cystic disease-nephronophthisis complex.

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Hogewind BL et al. (1977) Electro-rentinal abnormalities in heterozygotes of renal-retinal dysplasia.

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17.

Proesmans W et al. (1975) Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis.

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18.

Clarke MP et al. (1992) Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness.

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Schuman JS et al. (1985) Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease.

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20.

None (1969) Familial occurrence of congenital retinal blindness and developmental renal lesions.

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21.

Fontaine JL et al. (1970) [Tubulo-interstitial nephropathy in children with tapeto-retinal degeneration (Senior's syndrome. (1 case)].

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22.

Bois E et al. (1970) [Association of chronic tubulo-interstitial nephropathy and of tapeto-retinal degeneration. Genetic study].

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23.

None (1969) Hereditary renal-retinal dysplasia.

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24.

Mendley SR et al. (1995) Hereditary sclerosing glomerulopathy in the conorenal syndrome.

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25.

Antignac C et al. (1993) A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.

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26.

Warady BA et al. (1994) Senior-Loken syndrome: revisited.

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27.

Caridi G et al. (1998) Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus.

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28.

Ling L et al. (2000) MIP-T3, a novel protein linking tumor necrosis factor receptor-associated factor 3 to the microtubule network.

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29.

Omran H et al. (2002) Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.

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30.

Schuermann MJ et al. (2002) Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.

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31.

Otto E et al. (2002) A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

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32.

Olbrich H et al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

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33.

LOKEN AC et al. (1961) Hereditary renal dysplasia and blindness.

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34.

SENIOR B et al. (1961) Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy.

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35.

Otto EA et al. (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

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36.

None (1924) The Inheritance of a Retinal Abnormality in White Mice.

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37.

Omori Y et al. (2008) Elipsa is an early determinant of ciliogenesis that links the IFT particle to membrane-associated small GTPase Rab8.

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38.

Fairley KF et al. (1963) Familial Visual Defects Associated with Polycystic Kidney and Medullary Sponge Kidney.

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39.

Berbari NF et al. (2011) Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation.

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40.

Halbritter J et al. (2013) Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

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41.

Coussa RG et al. (2013) WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

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42.

Stone EM et al. (2011) Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

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43.

Zernant J et al. (2005) Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

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44.

Riess O et al. (1992) Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis.

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45.

Wagner RS et al. (1985) High hyperopia in Leber's congenital amaurosis.

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46.

Russell-Eggitt IM et al. (1989) Leber's congenital amaurosis--a new syndrome with a cardiomyopathy.

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47.

Hayasaka S et al. (1986) Leber's congenital amaurosis associated with hyperthreoninemia.

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48.

Schroeder R et al. (1987) Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases.

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49.

Ek J et al. (1986) Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome.

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50.

Rahn EK et al. (1968) Leber's congenital amaurosis with an Ehlers-Danlos-like syndrome. Study of an American family.

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51.

None (1968) Leber's congenital tapetoretinal degeneration.

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52.

Moore AT et al. (1984) A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis.

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53.

Nickel B et al. (1982) Leber's congenital amaurosis. Is mental retardation a frequent associated defect?

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54.

Lambert SR et al. (1993) Concordance and recessive inheritance of Leber congenital amaurosis.

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55.

Ehara H et al. (1997) New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis.

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56.

Yano S et al. (1998) Two sib cases of Leber congenital amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies.

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57.

Schuil J et al. (1998) Mental retardation in amaurosis congenita of Leber.

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58.

Perrault I et al. (1999) Leber congenital amaurosis.

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59.

Cremers FP et al. (2002) Molecular genetics of Leber congenital amaurosis.

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60.

Milam AH et al. (2003) Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.

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61.

WAARDENBURG PJ et al. (1963) ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS.

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62.

None (1966) Congenital amaurosis of Leber.

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63.

Chung DC et al. (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.

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64.

Sorsby A et al. (1960) Retinal Aplasia as a Clinical Entity.

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65.

Estrada-Cuzcano A et al. (2011) IQCB1 mutations in patients with leber congenital amaurosis.

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66.

Wiszniewski W et al. (2011) Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.

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67.

Wang X et al. (2011) Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.

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68.

Orphanet article

Orphanet ID 65 [^]
69.

OMIM.ORG article

Omim 204000 [^]
70.

Wikipedia article

Wikipedia EN (Leber's_congenital_amaurosis) [^]
Update: April 29, 2019