Enhanced S-cone syndrome (ESCS) is a rare type of retinal dystrophy disorder that is linked to NR2E3 gene mutation and NRL gene mutations less widely. The disease is characterized by increased S-cones number and marked degeneration in rods and M- and L-cone receptors. The patient suffers from night blindness from an early age. Examination of the fundus of the eye shows nummular pigmented lesions, but they are not specific to ESCS. The diagnosis can be confirmed with electroretinography. We report a case of a four-year-old girl suspected of having ESCS based on her clinical picture, fundus examination, and electroretinography.

Introduction: Goldmann Favre Syndrome (GFS) is a vitreoretinal degenerative disease with macular retinoschisis. The current treatment of foveoschisis is topical and oral carbonic anhydrase inhibitors.Case: A 22-year-old male diagnosed with GFS presented a progressive decrease in vision of the right eye. The optical coherence tomography showed a significant macular schisis. A medical treatment with topical and oral carbonic anhydrase inhibitors was ineffective. We performed a pars plana vitrectomy and silicone oil placement which led to an improvement of the visual acuity and a reduction of the foveoschisis.Conclusion: We describe here the first case of surgical treatment for macular schisis in a patient with GFS.

To describe the detailed phenotype, long-term clinical course, clinical variability, and genotype of patients with enhanced S-cone syndrome (ESCS).
Retrospective case series.
Fifty-six patients with ESCS.
Clinical history, examination, imaging, and electrophysiologic findings of 56 patients (age range, 1-75 years) diagnosed with ESCS were reviewed. Diagnosis was established by molecular confirmation of disease-causing variants in the NR2E3 gene (n = 38) or by diagnostic full-field electroretinography findings (n = 18).
Age at onset of visual symptoms, best-corrected visual acuity (BCVA), quantitative age-related electrophysiologic decline, and imaging findings.
Mean age at onset of visual symptoms was 4.0 years, and median age at presentation was 20.5 years, with mean follow-up interval being 6.1 years. Six patients were assessed once. Disease-causing variants in NR2E3 were identified in 38 patients. Mean BCVA of the better-seeing eye was 0.32 logarithm of the minimum angle of resolution (logMAR) at baseline and 0.39 logMAR at follow-up. In most eyes (76% [76/100]), BCVA remained stable, with a mean BCVA change of 0.07 logMAR during follow-up. Nyctalopia was the most common initial symptom, reported in 92.9% of patients (52/56). Clinical findings were highly variable and included foveomacular schisis (41.1% [26/56]), yellow-white dots (57.1% [32/56]), nummular pigmentation (85.7% [48/56]), torpedo-like lesions (10.7% [6/56]), and circumferential subretinal fibrosis (7.1% [4/56]). Macular and peripheral patterns of autofluorescence were classified as (1) minimal change, (2) hypoautofluorescent (mild diffuse, moderate speckled, moderate diffuse, or advanced), or (3) hyperautofluorescent flecks. One patient showed undetectable electroretinography findings; quantification of main electroretinography components in all other patients revealed amplitude and peak time variability but with pathognomonic electroretinography features. The main electroretinography components showed evidence of age-related worsening over 6.7 decades, at a rate indistinguishable from that seen in unaffected control participants. Eighteen sequence variants in NR2E3 were identified, including 4 novel missense changes.
Enhanced S-cone syndrome has a highly variable phenotype with relative clinical and imaging stability over time. Most electroretinography findings have pathognomonic features, but quantitative assessment reveals variability and a normal mean rate of age-related decline, consistent with largely nonprogressive peripheral retinal dysfunction.

To describe a novel association of enhanced S-cone syndrome (ESCS) with macular retinal neovascularization and severe retinal vasculitis.
Clinical examination, spectral domain optical coherence tomography, fluorescein angiography, fundus autofluorescence, infrared reflectance and electroretinography were used to study a 25-year-old male with a history of night blindness from early childhood and recent accelerated visual loss in right eye.
Pigmented lesions were observed along the arcades without peripheral retinal involvement. Intraretinal cystoid spaces, retinal neovascularization of posterior pole and severe peripheral and posterior retinal vasculitis were found on clinical examination and multimodal imaging. Based on characteristic clinical and electroretinographic findings, a diagnosis of ESCS was made.
This case highlights novel associations of retinal neovascularization and vasculitis with ESCS.

BACKGROUND: We describe the youngest case of enhanced S-cone syndrome (ESCS) associated with choroidal neovascularization (CNV) successfully treated with intravitreal ranibizumab injections.
METHODS: A 5-year-old boy presented with round-shaped fibrotic subretinal lesions in both eyes with surrounding subretinal fluid and progressive visual deterioration in the right eye. Fine foci of increased autofluorescence were observed along the arcades in both eyes. Fluorescein angiography revealed the presence of CNV in his right eye, and treatment with ranibizumab was initiated, with significant improvement in vision. Subsequent electroretinogram examination and genetic studies of the patient and his two younger siblings confirmed the diagnosis of ESCS.
CONCLUSIONS: CNV has been reported to occur in different inherited retinal degenerations, including ESCS. Our experience confirms that treatment with ranibizumab in patients with CNV-complicated ESCS can be potentially vision-saving.

BACKGROUND: Enhanced S-cone syndrome is an autosomal recessive retinal dystrophy related to a defect in a nuclear receptor gene (NR2E3) that leads to alteration in cells development from rod to S-cone. This retinal dystrophy may be associated with retinal schisis. The aim of this report is to describe structural optical coherence tomography and optical coherence tomography angiography features in a case of enhanced S-cone syndrome associated with macular schisis.
METHODS: A Caucasian 13-year-old girl underwent measurement of best corrected visual acuity, ophthalmoscopic evaluation, and fundus autofluorescence examination. Photopic and scotopic electroretinography were carried out as well. Enhanced S-cone syndrome was suspected on the basis of clinical and electrophysiological findings. Structural optical coherence tomography and optical coherence tomography angiography allowed the further characterization of the associated macular schisis. Genetic analysis not only confirmed the diagnosis but increased the clinical novelty of this case report by showing two variations in the NR2E3 gene probably related to the phenotype: a missense variation c.1118T>C which leads to the substitution of leucine with proline in amino acid position 373, and c.349+5G>C, which involves a gene sequence near a splicing site.
CONCLUSIONS: Swept source structural optical coherence tomography (B scans and \"en face\" images) and optical coherence tomography angiography allowed the observation of retinal structural details and the involvement of each retinal layer and capillary plexus in enhanced S-cone syndrome. Of interest, neither of the two NR2E3 gene variants found in this case report have been linked to any form of retinopathy.