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youssr louati, Veronika Vaclavik, Daniel F Schorderet, Imen Habibi; Consanguineous Tunisian Family With Enhanced-S-cone Syndrome. Invest. Ophthalmol. Vis. Sci. 2017;58(8):4685.
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To report the clinical, electrophysiological and genetical characteristics of 3 family members with homozygous NR2E3 gene mutation, classically associated with Enhance-S-cone syndrome. The youngest 3 years old patient had an additional heterozygote NRL mutation and a clinically more advanced disease
Patients underwent ophthalmic examination, Optical coherence tomography (OCT), autofluorescence, functional testing including Full Field ERG and genetic mutational screening.Further tests were performed in some patients, including fundus fluorescein angiography (FFA).
R311Q homozygous mutation was identified in all three patients with additional heterozygous NRL: c.654delC in the child aged 3Patients were aged 3, 32 and 40 years; all had night blindness from childhood and reducing VA.The 3 year old child had esotropia of the RE, VA 0.1 (RE), 0.6 (LE), physiological hypermetropia and astigmatism, normal appearing anterior segment optic nerves and peripheral retina, large interpapillomacular subretinal fibrosis with multiples yellowish subretinal deposits in the right eye, subretinal yellow deposits temporal to the fovea in the left one. Autofluorescence showed multiples hyperfluorescent dots in the posterior pole and large areas of hypofluorescence where fibrosis has been previously described. Fluoresceine angiography showed central retinal atrophy, absence of foveal avascular zone and absence of vascular anomaly, leakage or ischemia. OCT showed full thickness atrophy in both eyes predominant in the right one.ISCEV Standard Full Field electroretinogramm under narcosis showed markedly reduced scotopic responses and slightly reduced photopic waves.
The phenotype in ESCS is highly variable, the associated Nrl mutation might play some additional role in the severity of the disease.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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