Enhanced S-Cone Syndrome

An autosomal recessive retinopathy in which patients have increased sensitivity to blue light due to an increase in the number of CONE PHOTORECEPTORS for short wavelength light. Affected individuals experience visual loss, with early onset NIGHT BLINDNESS, varying degrees of L (long, red)- and M (middle, green)-cone vision, and minimal to severe retinal degeneration. Goldmann-Favre syndrome is the severe form of retinal degeneration. Mutations in the NR2E3 gene have been identified. OMIM: 268100

Also Known As:

Networked: 50 relevant articles (5 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Cysts
2.	Retinoschisis (Retinoschisis, Juvenile)
3.	Retinal Degeneration
4.	Retinitis Pigmentosa (Pigmentary Retinopathy)
5.	Choroidal Neovascularization

Experts

1.	Stone, Edwin M: 4 articles (01/2019 - 01/2002)
2.	Fishman, Gerald A: 4 articles (01/2016 - 01/2009)
3.	Jacobson, Samuel G: 3 articles (03/2003 - 01/2002)
4.	Audo, Isabelle: 2 articles (10/2021 - 01/2019)
5.	Sahel, José-Alain: 2 articles (10/2021 - 04/2007)
6.	Aísa-Marín, Izarbe: 2 articles (12/2020 - 12/2020)
7.	López-Iniesta, M José: 2 articles (12/2020 - 12/2020)
8.	Marfany, Gemma: 2 articles (12/2020 - 12/2020)
9.	Tsang, Stephen H: 2 articles (01/2018 - 10/2013)
10.	McAnany, J Jason: 2 articles (01/2016 - 12/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Enhanced S-Cone Syndrome:

1.	dorzolamide (Trusopt)FDA LinkGeneric 12/01/2010 - "The results indicate that in our patient with enhanced S-cone syndrome, treatment with topical dorzolamide was effective in improving macular thickness, VA, microperimetry sensitivity, and grating contrast sensitivity. " 12/01/2010 - "Efficacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndrome." 12/01/2010 - "A 24-year-old Asian man with enhanced S-cone syndrome treated with topical dorzolamide in the left eye participated in the study. " 02/01/2016 - "To evaluate whether cystoid macular lesions respond to treatment with dorzolamide 2% drops in the enhanced S-cone syndrome (ESCS) child, as several case reports document favorable efficacy in adults. " 02/01/2016 - "Cystoid macular lesions are resistant to topical dorzolamide treatment in enhanced S-cone syndrome child."
2.	Carbonic Anhydrase InhibitorsIBA 01/01/2009 - "The treatment of macular cysts using a topical carbonic anhydrase inhibitor twice a day can potentially reduce foveal cystic changes and possibly improve visual acuity in at least some patients with enhanced S-cone syndrome." 02/01/2009 - "To report on the efficacy of the oral carbonic anhydrase inhibitor (CAI) acetazolamide in treating macular retinoschisis (RS) in the rare vitreoretinal dystrophy best known as the enhanced S-cone syndrome (ESCS). " 06/01/2013 - "The purpose of the study was to evaluate the efficacy of a topical form of a carbonic anhydrase inhibitor (dorzolamide) on the foveal function and thickness in the eye of a patient with enhanced S-cone syndrome (ESCS) associated with macular cysts. " 01/01/2009 - "To determine the efficacy of dorzolamide ophthalmic solution, a carbonic anhydrase inhibitor, for treating macular schisis in enhanced S-cone syndrome. "
3.	Ophthalmic Solutions (Eye Drops)IBA 12/01/2010 - "The purpose of this study was to evaluate the efficacy of topical dorzolamide 2% eye drops on macular function and thickness in a case of enhanced S-cone syndrome (ESCS). " 01/01/2009 - "To determine the efficacy of dorzolamide ophthalmic solution, a carbonic anhydrase inhibitor, for treating macular schisis in enhanced S-cone syndrome. "
4.	Acetazolamide (Diamox)FDA LinkGeneric 02/01/2009 - "Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide." 02/01/2009 - "To report on the efficacy of the oral carbonic anhydrase inhibitor (CAI) acetazolamide in treating macular retinoschisis (RS) in the rare vitreoretinal dystrophy best known as the enhanced S-cone syndrome (ESCS). "
5.	Bevacizumab (Avastin)FDA Link 10/01/2016 - "Bevacizumab for choroidal neovascularisation in enhanced S-cone syndrome." 10/01/2016 - "We present a case of enhanced S-cone syndrome (ESCS)-associated choroidal neovascularisation (CNV) treated successfully with intravitreal bevacizumab therapy. "
6.	Retinaldehyde (Retinal)IBA 01/01/2016 - "The purpose of this study was to evaluate pupillary light reflexes (PLRs) mediated by rod, cone, and intrinsically photosensitive retinal ganglion cell pathways as indices of outer- and inner-retinal function in patients who have enhanced S-cone syndrome (ESCS) due to NR2E3 mutations. " 02/01/2000 - "A study that elucidates the cause of enhanced S-cone syndrome, a disorder that may be caused by a distortion of retinal cell fate, reveals one such factor-although questions about its effects remain." 01/01/2023 - "To measure photoreceptor packing density and S-cone spatial resolution as a function of retinal eccentricity in patients with enhanced S-cone syndrome (ESCS) and to discuss the possible mechanisms supporting their supernormal S-cone acuity. " 01/01/2019 - "Furthermore, our model may offer new opportunities in finding treatments for enhanced S-cone syndrome (ESCS) and other retinal degenerative diseases." 10/03/2018 - "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. "
7.	Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA 04/06/2007 - "The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome." 10/01/2004 - "To describe the clinical characteristics of a Japanese male patient with enhanced S-cone syndrome (ESCS) and investigate the existence of mutations in the NR2E3 gene, which encodes a photoreceptor cell-specific nuclear receptor. " 10/03/2018 - "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. " 07/01/2006 - "The retinal degeneration 7 (rd7) mouse is a naturally occurring model of enhanced S-cone syndrome, Goldman-Favre syndrome and clumped pigmentary retinopathy in humans, allelic disorders caused by inactivation of a photoreceptor-specific nuclear hormone receptor, NR2E3. " 04/06/2007 - "To investigate functional consequence on photoreceptor-cell specific nuclear receptor (NR2E3) transcriptional activity of enhanced S-cone syndrome (ESCS) mutations localized in ligand binding domain (LBD). "
8.	Fluorescein (Funduscein)FDA LinkGeneric 11/01/2021 - "Three eyes with neovascularization, from two patients with enhanced S-cone syndrome, were analyzed using fluorescein angiography, indocyanine-green and optical coherence tomography angiography imaging. " 01/01/2019 - "Fluorescein and indocyanine green angiographies showed unilateral macular retinochoroidal anastomosis on his right eye, and spectral domain optical coherence tomography showed typical signs of subretinal exudation and foveolar pseudoschisis consistent with the diagnosis of enhanced S-cone syndrome. " 08/01/2017 - "CME without fluorescein leakage is rare, and its most common causes are juvenile X-linked retinoschisis, Goldmann-Favre syndrome, and niacin toxicity. "
9.	Transcription Factors (Transcription Factor)IBA 01/01/2019 - "Enhanced S-cone syndrome (ESCS) is caused by recessive mutations in the photoreceptor cell transcription factor NR2E3. " 01/01/2017 - "These were the velvet worm, Principapillatus hitoyensis, the branchiopod water flea, Daphnia magna, normal humans, and humans with enhanced S-cone syndrome, a condition in which S-cone frequency is increased due to mutations in a transcription factor that controls photoreceptor expression. " 06/01/2010 - "Enhanced S-cone syndrome (ESCS), also known as Goldmann-Favre syndrome, is a progressive retinal degeneration that frequently presents with night blindness and nummular pigment clumping around the vascular arcades and is caused by recessive mutations in the photoreceptor-specific NR2E3 transcription factor. "
10.	Cone OpsinsIBA 12/01/2009 - "The histological data obtained from the retina of an elderly male patient with Goldmann-Favre syndrome showed an absence of rods and abnormal distribution of red/green and blue cone opsins." 01/24/2003 - "Genomic DNA was isolated from blood samples obtained from 50 patients with Leber Congenital Amaurosis (LCA), 17 patients with the Enhanced S-Cone Syndrome (ESCS), and a patient with an atypical retinal degeneration that causes photoreceptor rosettes with blue cone opsin. "

Therapies and Procedures

1.	Therapeutics 10/01/2016 - "We present a case of enhanced S-cone syndrome (ESCS)-associated choroidal neovascularisation (CNV) treated successfully with intravitreal bevacizumab therapy. "
2.	Lasers (Laser) 12/01/2004 - "To present ocular fundus images in a patient with enhanced S-cone syndrome by scanning laser ophthalmoscopy. " 12/01/2004 - "Ocular fundus images by scanning laser ophthalmoscopy in a patient with enhanced S-cone syndrome." 10/01/2013 - "Although the characteristic onset of enhanced S-cone syndrome can be well-documented by current ophthalmic imaging modalities, techniques such as spectral-domain optical coherence tomography (SD-OCT) and scanning laser ophthalmoscopy (SLO) fail to provide sufficient details regarding the microstructure of photoreceptors in retinal diseases. " 04/01/2002 - "Elevated macular retinoschisis associated with Goldmann-Favre syndrome successfully treated with grid laser photocoagulation."
3.	Vitrectomy 10/01/2021 - "Management of a case of Enhanced S-cone syndrome with massive foveoschisis treated with pars plana vitrectomy with silicone oil tamponade."
4.	Light Coagulation 04/01/2002 - "Elevated macular retinoschisis associated with Goldmann-Favre syndrome successfully treated with grid laser photocoagulation."
5.	Injections 09/01/2018 - "We describe the youngest case of enhanced S-cone syndrome (ESCS) associated with choroidal neovascularization (CNV) successfully treated with intravitreal ranibizumab injections. "