Leber congenital amaurosis

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

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

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.

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

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

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

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

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

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

None (1968) Leber's congenital tapetoretinal degeneration.

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

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

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

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

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

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

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

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

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

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

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

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

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

None (1966) Congenital amaurosis of Leber.

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

None (1969) Hereditary renal-retinal dysplasia.

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

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

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

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

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