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| RETINAL IMAGING SECTION |
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| Year : 2017 | Volume
: 18
| Issue : 1 | Page : 48-50 |
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Goldmann-Favre syndrome
Alaa M Fadel, Moemen S El-Nawawy
Department of Ophthalmology, Faculty of Medicine, Alexandria University, Alexandria, Egypt
| Date of Submission | 10-Mar-2016 |
| Date of Acceptance | 19-Apr-2016 |
| Date of Web Publication | 6-Mar-2017 |
Correspondence Address:
Moemen S El-Nawawy
15 Mohamed Wagih Ahmed Street, Wabour El-Maya, Alexandria, 21515
Egypt
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/1110-9173.201617
Goldmann-Favre syndrome is a rare autosomal recessive vitreoretinal dystrophy that appears usually during childhood, and it manifests with progressive loss of visual acuity, night blindness, and poor color recognition. Fundus findings include degenerative pigmentary changes with macular edema and retinoschisis. Keywords: enhanced s-cone, goldmann-favre, lamellar macular hole
How to cite this article:
Fadel AM, El-Nawawy MS. Goldmann-Favre syndrome. Delta J Ophthalmol 2017;18:48-50 |
A 22-year-old male patient presented with progressive reduction in visual acuity and poor night vision for several years. He was not diabetic or hypertensive. His visual acuity was 0.05 in both eyes with insignificant error of refraction. The anterior segment of both eyes, including the eyelids, cornea, anterior chamber, and lens, was normal on slit lamp examination. Pupil reaction was normal in both eyes. Ishihara plates were presented to the patient and he incorrectly responded to 20 of 21 plates.
Fundus examination of both eyes revealed liquefied vitreous. The retina in both eyes showed pigment deposition in the posterior pole, with elevated macular areas with suspicion of lamellar macular holes ([Figure 1] and [Figure 2]). | Figure 1 Right eye: pigment deposition and a raised macular area with suspected lamellar macular hole.
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 | Figure 2 Left eye: pigment deposition and a raised macular area with suspected lamellar macular hole.
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Fluorescein angiography was difficult to carry out due to poor fixation, but it demonstrated extensive edema in both macular areas resembling retinoschisis, with blocked fluorescence corresponding to pigment deposition centrally and in the mid-periphery ([Figure 3],[Figure 4],[Figure 5],[Figure 6]). | Figure 3 Fluorescein angiography of the right eye with blocked fluorescence corresponding to pigment deposition with dye pooling in the macular area.
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 | Figure 5 Fluorescein angiography of the right eye with blocked fluorescence corresponding to pigment deposition with central hyperfluorescence.
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Optical coherence tomography was performed in both eyes and it revealed lamellar holes, retinoschisis, atrophic inner segment/outer segment complex with pigment deposition in the retinal pigment epithelium. Optical coherence tomography of the right eye showed a retinal pigment epithelium detachment nasal to the fovea ([Figure 7] and [Figure 8]). | Figure 7 OCT of the right eye showing lamellar hole with retinoschisis and atrophic IS-OS complex (RPE detachment is noted). IS-OS, inner segment/outer segment; OCT, optical coherence tomography.
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 | Figure 8 OCT of the left eye showing lamellar hole with retinoschisis and atrophic IS-OS complex. IS-OS, inner segment/outer segment; OCT, optical coherence tomography.
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| Background | |  |
The study was approved by the ethical committee at the faculty. A patient consent was collected in accordance with the guidelines of the ethical committee of the Alexandria University. Enhanced S-cone syndrome, sometimes called Goldmann-Favre syndrome, is an autosomal recessive retinal disorder caused by mutations in NR2E3, also called the photoreceptor-specific nuclear receptor located on chromosome 15q23. It is a retinal disorder characterized by increased sensitivity to blue light, night blindness from an early age, and decreased vision. Additional features include an optically empty liquefied vitreous, progressive foveal or peripheral retinoschisis, macular cysts, chorioretinal atrophy and pigmentary retinopathy as well as posterior subcapsular cataract formation. Hyperopia is a feature, at least during childhood [1]. Enhanced S-cone syndrome is the only retinal disorder that has a gain of a subtype of photoreceptors, in this case the S-cones (short wavelength) that detect blue light. Rod photoreceptors and red and green cone receptors are degenerated to a variable degree. Electroretinography shows an extinct rod photoreceptor response and hypersensitivity to shorter wavelengths. No general systemic manifestations are associated with enhanced S-cone syndrome and Goldmann-Favre syndrome [2].
There is presently no effective treatment for the disorder, but visual function can be improved with low vision aids. Cataract surgery may be beneficial.Improvement in vision has been reported with the use of topical carbonic anhydrase inhibitors [3].
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
| 1. | Hull S, Arno G, Sergouniotis PI, Tiffin P, Borman AD, Chandra A et al. Clinical and molecular characterization of enhanced S-cone syndrome in children. JAMA Ophthalmol 2014;132:1341–1349.  |
| 2. | Yzer S, Barbazetto I, Allikmets R, van Schooneveld MJ, Bergen A, Tsang SH et al. Expanded clinical spectrum of enhanced S-cone syndrome. JAMA Ophthalmol 2013;131:1324–1330. |
| 3. | Hajali M, Fishman GA. Dorzolamide use in the management of macular cysts in a patient with enhanced S-cone syndrome. Retin Cases Brief Rep 2009;3:121–124. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]
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