Coriorretinopatía geográfica progresiva asociada al síndrome de Alagille

Abstract

Ocular abnormalities associated with Alagille Syndrome are variable and can affect most ocular structures. Although severe visual threat or progressive ocular disease associated with Alagille syndrome have not yet been described, our patient has shown a marked decrease in visual acuity and a clear progression of the chorioretinal atrophy.

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome

“…Although this peripheral chorioretinal atrophy has been reported before, 16 , 40 , 41 the frequency was unknown and there have only been limited reports of progression. 10 There have been reports of peripheral changes before, Puklin showed this well demarcated peripheral changes in 1981. 40 Thirty-three years after Esmaili showed for the first time using wide field FAF the autofluorescence loss in the periphery of a patient with ALGS.…”

“… 7 – 9 Posterior embryotoxon, characterized by a prominent and anterior Schwalbe's line at the junction of the corneal endothelium and the uveal trabecular meshwork, 9 is a major criterion and has been reported as the most frequent ocular finding. 6 , 10 – 12 However, some studies have reported that the presence of optic disc drusen on ocular ultrasound may be more common than posterior embryotoxon in ALGS. 13 – 15 Other ocular abnormalities that have been reported include a mosaic pattern of iris stromal hypoplasia, corectopia, microcornea, strabismus, high myopia, pigmentary retinopathy, 13 , 16 and geographic chorioretinopathy.…”

“… 13 – 15 Other ocular abnormalities that have been reported include a mosaic pattern of iris stromal hypoplasia, corectopia, microcornea, strabismus, high myopia, pigmentary retinopathy, 13 , 16 and geographic chorioretinopathy. 10 Using wide-field imaging, Esmaili documented one patient with peripheral chorioretinal atrophy that extended circumferentially bilaterally with a sharp demarcation between the normal and abnormal retina in the periphery. 16 However, the frequency of peripheral chorioretinal atrophy has not been previously reported.…”

“… 9 , 26 The protein encoded by JAG1 is a Delta ligand for the Notch receptor(s). 5 , 10 , 27 , 28 The protein encoded by NOTCH2 is a receptor that mediates molecular signaling between cells. 29 Mutations in these genes contribute to various systemic issues possibly due to a loss of cellular interactions.…”

Optical coherence tomography and fundus autofluorescence imaging study of chorioretinal atrophy involving the macula in Alagille syndrome

“…In studying retinal changes in Alagille syndrome, Hingorani et al1 reported that irregular pigmentation at the level of the retinal pigment epithelium, most often manifested as a speckling or granularity of the retinal pigment epithelium, was distributed diffusely in the mid peripheral/peripheral zone 1. The few reports concerning macular changes in Alagille syndrome describe symmetric, well circumscribed, horizontally oval areas of speckled reddish brown macular discoloration,2 pigment clumping in the macula,3 and circumpapillary geographic chorioretinal atrophy with half-moon shapes involving the macular area 4. However, chorioretinal atrophy involving the macular area is rare.…”