Alagille Syndrome: Clinical and Ocular Pathognomonic Features

El-Koofy, Nehal; El-Mahdy, Randa; Fahmy, Mona; El-Hennawy, Ahmed; Farag, Mohamed Y; El‐Karaksy, Hanaa

doi:10.5301/ejo.2010.5675

Cited by 24 publications

(18 citation statements)

References 17 publications

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“…It must be noted that however, age related peripheral opacities in the cornea can make it difficult to observe posterior embryotoxon at older age, and this could be the reason for the lower prevalence rate in older age groups. This is of particular importance because posterior embryotoxon may be associated with other disease such as the Alagille syndrome [16,17]. On the other hand, there seems to be a significant correlation between this corneal condition and glaucoma [1,2], and thus, performing gonioscopy in cases of posterior embryotoxon, especially where the prevalence is high, can help identify certain cases of glaucoma.…”

Section: Discussionmentioning

confidence: 99%

The frequency of occurrence of certain corneal conditions by age and sex in Iranian adults

Hashemi

Khabazkhoob

Emamian

et al. 2015

Contact Lens and Anterior Eye

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Section: Discussionmentioning

confidence: 99%

The frequency of occurrence of certain corneal conditions by age and sex in Iranian adults

Hashemi

Khabazkhoob

Emamian

et al. 2015

Contact Lens and Anterior Eye

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“…42; 98; 150 This disorder is a form of familial intrahepatic cholestasis, with neonatal jaundice and paucity of intrahepatic bile ducts. Many ocular findings have been reported in association with Alagille syndrome, including posterior embryotoxon, pigmentary retinopathy, and optic disc drusen.…”

Section: Association Of Optic Disc Drusen With Other Ocular or Sysmentioning

confidence: 99%

Optic disk drusen in children

Chang

Pineles

2016

Survey of Ophthalmology

112

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Optic disc drusen occur in 0.4% of children and consist of acellular intracellular and extracellular deposits that often become calcified over time. They are typically buried early in life and generally become superficial, and therefore visible, later in childhood, at the average age of 12 years. Their main clinical significance lies in the ability of optic disc drusen, particularly when buried, to simulate true optic disc edema. Misdiagnosing drusen as true disc edema may lead to an invasive and unnecessary workup for elevated intracranial pressure. Ancillary testing, including ultrasonography, fluorescein angiography, fundus autofluorescence, and optical coherence tomography, may aid in the correct diagnosis of optic disc drusen. Complications of optic disc drusen in children include visual field defects, hemorrhages, choroidal neovascular membrane, non-arteritic anterior ischemic optic neuropathy, and retinal vascular occlusions. Treatment options for these complications include ocular hypotensive agents for visual field defects and intravitreal anti-vascular endothelial growth factor (anti-VEGF) agents for choroidal neovascular membranes. In most cases, however, children with optic disc drusen can be managed by observation with serial examinations and visual field testing, once true optic disc edema has been excluded.

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“…On the other hand, as no retinal pigment epithelium is to be found in the peripapillary area, and as the transmembrane protein encoded by BEST1 is localized in the basolateral plasma membrane of the entire RPE [48,49], the described hyperfluorescent deposits on the surface of the optic disc, in the described patients with Best vitelliform macular dystrophy, seem to be a result of axonal degeneration with secondary migration of degenerated particles along the axons, following the apoptosis. Argument in favour of the former is the fact that numerous patients with phenotypical picture of other isolated or syndromic inherited retinal dystrophy have shown similar clinical manifestation of the optic disc deposits [4][5][6][7][8][9][10][11][12][13][14].…”

Section: Discussionmentioning

confidence: 99%

“…For instance, optic disc drusen and optic disc hamartomas have already been found in cases with retinitis pigmentosa [4,5], Usher syndrome [6], malattia leventinese [7] and congenital stationary night blindness [8]. Some neurodegenerative syndromes have also been linked to inherited retinopathies and optic disc drusen, as in: mulibrey nanism [9], Joubert syndrome [10], Alagille syndrome [11], Adams-Oliver syndrome [12], ataxia-telangiectasia [13], pseudoxantoma elasticum [14]. In reviewing published reports, optic disc findings have also been described in conjunction to Best vitelliform macular dystrophy, as for instance, the aberrant papillae with peripheral band of circumferential retinal atrophy and hyperpigmentation alterations, mapped to the autosomal-dominant vitreoretinochoroidopathy (ADVIRC) [15,16].…”

mentioning

confidence: 99%

Prominent Optic Disc Featured in Inherited Retinopathy

Todorova

Bojinova

Valmaggia

2017

Klin Monatsbl Augenheilkd

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We investigated the relationship between prominent optic disc (POD) and inherited retinal dystrophy (IRD). A cross-sectional consecutive study was performed in 10 children and 11 adults of 7 non-related families. We performed clinical phenotyping, including a detailed examination, fundus autofluorescence, and colour fundus and OCT imaging. Genetic testing was subsequently performed for all family members presenting retinal pathology. In 4 members of a 3-generation family, hyperfluorescent deposits on the surface of POD were related to a p.(L224M) heterozygous mutation in . In the second family, one member presented deposits located on the surface on hyperaemic OD and a compound p.(R141H);(A195V) mutation in. In the third family, POD was observed in father and child with early onset cone-rod dystrophy and a novel autosomal recessive p.(W31*) homozygous mutation in . In the fourth family, POD with "mulberry-like" deposits and attenuated vessels were observed in a 7-year old girl, with a mutation in, and with early onset rod-cone dystrophy, associated with hearing loss. In the fifth family, blurry OD with tortuous vessels was observed in 4 consanguineous female carriers and a hemizygous boy with a p.(R200H) mutation in the X-linked retinoschisis . In the sixth family, a mother and her son were both affected with POD and attenuated peripapillary vessels, and presented with a p.(Y836C) heterozygous mutation in, thus confirming autosomal dominant RP. In the seventh family, in 3 family members with POD, compound p.(L541P;A1038 V);(G1961E) mutations in confirmed the diagnosis of Stargardt disease. A variety of OD findings are found in a genetically heterogeneous group of IRDs. In the presence of POD, an inherited progressive photoreceptor disease should be ruled out.

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Alagille Syndrome: Clinical and Ocular Pathognomonic Features

Abstract: Optic nerve drusen was the most common finding in AGS, followed by PE and facial features. Ocular ultrasound needs to be performed in all cholestatic infants with PILBD.

Cited by 24 publications

References 17 publications

The frequency of occurrence of certain corneal conditions by age and sex in Iranian adults

The frequency of occurrence of certain corneal conditions by age and sex in Iranian adults

Optic disk drusen in children

Prominent Optic Disc Featured in Inherited Retinopathy

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