Enhanced s cone syndrome
aDepartment of Medicine – Ophthalmology, University of Udine, Udine, ItalybI.R.C.C.S. “Eugenio Medea” – “La Nostra Famiglia”, Udine, ItalycDivision of Ophthalmology, S. Maria degli Angeli Hospital, Pordenone, Italy
Introduction: We present the case of the youngest patient with enhanced S-cone syndrome (ESCS) and choroidal neovascularization (CNV) who was successfully treated with intravitreal ranibizumab injections. Report on a Case: A 5-year-old boy presented with both eyes having round-shaped fibrotic subretinal lesions with surrounding subretinal fluid and gradual visual loss. In both eyes, fine foci of increased autofluorescence were seen along the arcades. Fluorescein angiography showed CNV in his right eye, prompting treatment with ranibizumab, which resulted in dramatic vision improvement. The diagnosis of ESCS was confirmed by a subsequent electroretinogram test and genetic studies of the patient and his two younger siblings. Conclusion: CNV has been linked to a variety of inherited retinal diseases, including ESCS. Treatment with ranibizumab in patients with CNV-complicated ESCS can theoretically save their vision, according to our findings.
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Enhanced S-Cone syndrome (ESCS) is an autosomal recessive retinopathy that causes photoreceptor gain-of-function and an imbalance of S-cone photoreceptors, making patients hypersensitive to blue light. The majority of rod receptors are also almost non-functional in these patients. Patients with ESCS develop night blindness early in life and have varying degrees of long and middle cone receptor vision loss. Examining the eyes shows different degrees of retinal degeneration.
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A.M. Minnella, V. Pagliei, M.C. Savastano, and others A case study using swept source optical coherence tomography and optical coherence tomography angiography in a child with enhanced S-cone syndrome.
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Figure 1: ESCS phenotype.
Figure 2: Chromatograms of 11 of the 12 ESCS proband mutations identified. Figure 3: Consanguineous kindred pedigrees with ESCS. Figure 4: BLAST homology findings showing human NR2E3’s protein similarity to other receptors in humans and other species: human NR2E3 (humNR2E3); Figure 5: NR2E3 expression Val C. Sheffield Permissions and rights Permissions and Reprints In relation to this article This article can be quoted. N. Haider, S. Jacobson, A. Cideciyan, and others in Haider, Jacobson, Jacobson, Jacobson, Jacobson, Jacobson, Jacobson, Jacobson, Jacobson, Jacobson, Jacobson, Jacobson Enhancement of S cone syndrome, a retinal cell fate condition, is caused by a mutation in the nuclear receptor gene NR2E3.