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Goldmann-Favre Syndrome

Enhanced S-Cone Syndrome


Presentation

  • Patients with GFS may present with retinal VPTRs that respond to therapy with cryotherapy and TTT.[ncbi.nlm.nih.gov]
  • It usually presents in childhood with nyctalopia. Central and peripheral retinoschisis is present. There is marked pigmentary changes similar to retinitis pigmentosa. Ref: Comprehensive Ophthalmology, A. K. Khurana, 4th edition, p271.[pgblazer.com]
  • Cones were present in the macula, but were mostly absent from the retinal periphery. In addition, cone rosettes were observed in the perimacular area.[ncbi.nlm.nih.gov]
  • Conclusions: Patients with GFS may present with retinal VPTRs that respond to therapy with cryotherapy and TTT.[molvis.org]
Movement Disorder
  • This richly illustrated title covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye.[books.google.com]
Hyperpigmentation
  • Variability of the clinical phenotype. ( a ) Patient 4, subtle pigmentary changes along the vascular arcades, with an absence of AF outside the arcades; ( b ) patient 14, macular disturbance with subtle pigmentary changes and areas of hyperpigmentation[iovs.arvojournals.org]
Central Scotoma
  • Microperimetry showed dense central scotoma with grossly reduced retinal sensitivity.[synapse.koreamed.org]
  • […] relative central scotoma Symmetrical macular cysts (Fig. 1f) documented by RTA with no leakage on FFA Mid-peripheral nummular pigment clumping and atrophy at level of RPE (Fig. 2) 17 M 48 OD: 6/18 OS: 6/18 ND — Mid-peripheral nummular pigment clumping[iovs.arvojournals.org]
Macula Edema
  • The fundus findings were a large retinoschisis in the right macula, edema resembling retinoschisis in the left macula and annular degenerative changes in the midperiphery. ERG and dark adaption were abnormal.[ncbi.nlm.nih.gov]
Corneal Edema
  • The RE fundus details were not clearly visible through the hazy media due to corneal edema and lenticular opacity. However, peripheral retinal exudation and mass lesions similar to those in the LE could be seen hazily.[molvis.org]

Workup

Nodular Fibrosis
  • The patterns of subretinal fibrosis were a) single white nodular fibrosis (7 eyes); b) multifocal nodular fibrosis distributed around the macular edge (2 eyes); c) geographic thin fibrosis (4 eyes); d) thick gray-white, continuous or interrupted arcuate[iovs.arvojournals.org]
Central Scotoma
  • Microperimetry showed dense central scotoma with grossly reduced retinal sensitivity.[synapse.koreamed.org]
  • […] relative central scotoma Symmetrical macular cysts (Fig. 1f) documented by RTA with no leakage on FFA Mid-peripheral nummular pigment clumping and atrophy at level of RPE (Fig. 2) 17 M 48 OD: 6/18 OS: 6/18 ND — Mid-peripheral nummular pigment clumping[iovs.arvojournals.org]

Treatment

  • While treatment options for complications such as retinoschisis and cystoid macular edema may be recommended, currently there is not a cure or specific targeted treatment for Goldmann Favre syndrome.[patientworthy.com]
  • Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice.[books.google.com]
  • Examinations performed before and during treatment were included visual acuity (VA), contrast sensitivity measured with briefly presented grating targets (grating CS) and the Pelli-Robson chart (P-R… CONTINUE READING[pdfs.semanticscholar.org]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • Diagnosis and Prognosis: The diagnosis is made by an eye doctor based on the retina appearance and the abnormalities seen in a test called an ERG, or an electroretinogram.[disorders.eyes.arizona.edu]
  • Prognosis GFS has a progressive course. In most cases, visual loss occurs in the first two decades of life. Some improvement of visual acuity has been reported after treatments with cyclosporin A and bromocriptine.[orpha.net]
  • Published clinical reports of CNV-complicated ESCS showed a relatively favorable visual prognosis with common tendency to a spontaneous involution of the low-active CNV to a small, circumscribed fibrotic subretinal scar.[karger.com]

Etiology

  • Etiology Mutations in the NR2E3 gene (formerly called PNR ) have been identified in some patients with GFS. NR2E3 (15q23) encodes a retinal nuclear receptor that is involved in the differentiation of photoreceptors.[orpha.net]

Epidemiology

  • […] dysplasia Hypocalcemic vitamin D-resistant rickets Synonym(s): - Enhanced S-cone syndrome - Retinoschisis with early nyctalopia Classification (Orphanet): - Rare eye disease - Rare genetic disease Classification (ICD10): - Diseases of the eye and adnexa - Epidemiological[csbg.cnb.csic.es]
  • Summary Epidemiology Less than 20 cases have been reported so far, some of them born to consanguineous families. Both sexes seem equally affected. Clinical description The onset is usually in childhood.[orpha.net]
  • Morbidity and mortality factors in twins, an epidemiologic approach. Clinics in Perinatology, 1988; 15:123–40. 62. Bjelic-Radisic V, Pristauz G, Haas J, Giuliani A, Tamussino K. Bader A, Lang U, Sclembach D.[medichub.ro]
Sex distribution
Age distribution

Pathophysiology

  • Offers the most comprehensive content available on retina , balancing the latest scientific research and clinical correlations, covering everything you need to know on retinal diagnosis, treatment, development, structure, function, and pathophysiology[books.google.com]
  • Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any[books.google.com]
  • Possible disease-related pathophysiologic mechanisms will be explored using induced pluripotent stem cell (iPSC) protocols leading to iPSC-derived retinal pigment epithelium (RPE) and photoreceptor generation.[clinicaltrials.gov]
  • Export citation Add to favorites Track citation Summary This chapter contains sections titled: Lentigo Simplex Lentigo Senilis et Actinicus Centrofacial Lentiginosis LEOPARD Syndrome Carney Complex Other Lentiginoses The Pigmentary System: Physiology and Pathophysiology[onlinelibrary.wiley.com]
  • Pathophysiology AMD Age-related macular degeneration (AMD) is the leading cause of legal blindness in the industrial world in people over an age of 65 years.[dbmr.unibe.ch]

Prevention

  • To see if the medicine can decrease retina fluid and help prevent vision loss. Eligibility: - People at least 12 years old with RCD or ESCS. Those with ESCS must have two mutations in the NR2E3 gene.[clinicaltrials.gov]
  • Our experience confirms that anti-VEGF therapy in ESCS patients can be potentially vision-saving and can prevent chronic visual deterioration secondary to CNV. Statement of Ethics The authors have no ethical conflicts to disclose.[karger.com]
  • "This research could help identify therapeutic agents that would prevent, ameliorate or possibly cure these blinding diseases related to defective renewal of retinal cells," said Krzysztof Palczewski, Ph.D., a senior scientist involved in the research[sciencedaily.com]
  • The ultimate goal hereby is to get a better understanding of AMD by using new diagnostic means increasing the possibility of prevention.[dbmr.unibe.ch]
  • Download references Acknowledgements This work was supported in part by grants from the National Eye Institute (EY014467), the Foundation Fighting Blindness, Research to Prevent Blindness, and the Mayo Clinic.[nature.com]

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