|
 
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| CASE REPORT |
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| Year : 2021 | Volume
: 59
| Issue : 1 | Page : 67-69 |
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Goldmann favre syndrome: A rare case report
M Hemanandini, V Savithiri, S Dhana Priya
Vitreoretina Services, RIOGOH, Chennai, Tamil Nadu, India
| Date of Submission | 17-Feb-2020 |
| Date of Decision | 21-Apr-2020 |
| Date of Acceptance | 29-May-2020 |
| Date of Web Publication | 27-Mar-2021 |
Correspondence Address:
Dr. S Dhana Priya
RIOGOH, Rukamani Lakshmipathy Road, Egmore, Chennai - 600 008, Tamil Nadu
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/tjosr.tjosr_9_20
Goldmann Favre syndrome (GFS) is a vitreotapetoretinal degeneration also called as Favre microfibrillar vitreoretinal degeneration. We report the case of a 24-year-old male who presented with defective vision in both eyes for 10 years with a history of defective night vision. He was diagnosed with GFS, by fundus examination and electroretinogram. He was treated with low vision aids.
Keywords: Goldmann Favre syndrome, hyperopia, pathognomonic electroretinogram, visual field loss
How to cite this article:
Hemanandini M, Savithiri V, Priya S D. Goldmann favre syndrome: A rare case report. TNOA J Ophthalmic Sci Res 2021;59:67-9 |
| Introduction | |  |
Goldmann Favre syndrome, (GFS) also known as Enhanced S Cone Syndrome (ESCS), is a rare condition that affects retina, vitreous body, and crystalline lens. ESCS is characterized by night blindness, increased sensitivity to blue light, pigmentary retinal degeneration, optically empty vitreous, hyperopia, pathognomonic electroretinogram (ERG) abnormalities, and varying degree of peripheral to mid peripheral visual field loss. Therapeutic options include low vision aids, cataract surgery may be beneficial.
| Case Report | | |
A 24-year-old male presented with the complaints of defective vision in both eyes for the past 10 years. There was an associated history of defective night vision. The patient did not have a history of systemic illness. There were no similar complaints among family members. There is no history of consanguineous marriage. His general and systemic examinations were within the normal limits. Blood pressure was 120/80 mmHg.
Best-corrected visual acuity in the right eye is 5/60 with + 3.00 Dsph/+1.00 D cyl @ 130° improving to 6/36 and in the left eye 5/60 with +3.50 D sph improving to 6/36. Anterior segment examination was normal in both eyes. Intraocular pressure was 17.3 mmHg in both eyes. Pupillary reaction was normal. Color vision was defective. Visual fields by automated perimetry showed the loss of mid peripheral and peripheral fields. There was only central 15° of field of vision. Fundus of both eyes showed clear media, normal disc and vessels, with tarpedo-like lesion along the vascular arcades and nasal to the disc. Tarpedo-like lesions are characterized by central hypopigmented patch with surrounding hyperpigmented ring. Deep nummular pigmentary deposits observed at the level of RPE around vascular arcade. Macular schisis present [Figure 1] and [Figure 2]. | Figure 1: Right eye fundus showing yellowish sheen with pigmentary deposits called TARPEDO-like lesions along the vascular arcades. Macula shows schisis cavity
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 | Figure 2: Left eye fundus showing yellowish sheen with pigmentary deposits called TARPEDO-like lesions along the vascular arcades. Macula shows schisis cavity
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Fundus fluorescein angiography of both eyes showed normal filling of disc and vessels. There were areas of hyperfluorescence, suggestive of window defect in areas of RPE atrophy, along with blocked fluorescence at the sub retinal level, suggestive pigment clumps along superotemporal arcade, inferotemporal arcade, and nasal to the disc. At macula, there was no evidence of leak.
Optical coherence tomography showed cystic spaces at the macula and along neurosensory retina [Figure 3]. The macula showed features suggestive of schisis cavity. ERG was done for the patient, the full field ERG of both eyes showed nonrecordable single-flash rod response with reduced and delayed scotopic and photopic response. Cone ERG showed markedly reduced L and M cone with abnormally large and delayed S-cone responses suggestive of enhanced S-cone syndrome [Figure 4] and [Figure 5]. | Figure 3: Optical coherence tomography macula of both eyes showing schisis cavity
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 | Figure 4: Electroretinogram showing nonrecordable single-flash rod response with reduced and delayed scotopic and photopic responses
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 | Figure 5: Cone electroretinogram showing markedly reduced L and M cone with abnormally large S cone
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| Discussion | | |
NR2E3 is also known as photoreceptor-specific nuclear receptor. Its physiological activity is essential for proper rod and cone development and maintenance. NR2E3 mutation occurs in GFS.[1]
GFS is a rare condition that affects retina, vitreous body, and crystalline lens. The characteristic features are nyctalopia, fibrillary vitreous degeneration, foveal cysts, peripheral retinoschisis, and retinal degeneration with clumped pigment and an unusual ERG.[2]
Patients with GFS have progressive loss of vision, caused by retinoschisis, cataract, and pigmentary chorioretinal degeneration. It is the macular retinoschisis that accounts for the poor central vision and central scotoma. The presenting symptom is night blindness often detected in the first decade.[1],[3] The intraretinal pigmentation described as the spots of pigment rather than the bony spicule as in retinitis pigmentosa. Macular lesions may be isolated or continuous with peripheral areas of schisis. The peripheral retinoschisis frequently shows oval holes in the inner layer and cause absolute field defects in the peripheral fields. The most striking vitreous change is liquefaction, which converts a large portion of the vitreous body into an empty space. The space may contain membranous strands and has no visible edge. They vary in density from one part of the vitreous body to another. The outer layer of the posterior cortex is detached, it shows depression that appears to be molded to retinal vessels.
Electrophysiology
The characteristic ERG shows an undetectable rod-specific response. The response from the S-cone system accounts for the waveform under both photopic and scotopic response.[4] Evidence from the shape of the ERG a-wave amplitudes and from psychophysiological studies of color sensitivity indicates that the affected retina have over abundance of S cone with reduced L and M cones.[5]
Management
Patient can be treated with low vision aids. Cataract surgery may be beneficial.
| Conclusion | | |
This case we report for its rarity.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
| 1. | Audo I, Michaelides M, Robson AG, Hawlina M, Vaclavik V, Sandbach JM, et al. Phenotypic variation in Enhanced S Cone syndrome. Ophthalmology Vis Sci 2008;49:2082-93.  |
| 2. | Tsang SH, Sharma T.Enhanced S-Cone Syndrome(Goldmann -Favre Syndrome).Adv Exp Med Biol.2018;1085:153-156. doi:10.1007/978-3-319-95046-4_28. |
| 3. | Sohn EH, Chen FK, Rubin GS, Moore AT, Webcter AR, Maclaren RE. Macular function assessed by microperimetry in patients with Enhanced S Cone syndrome. Ophthalmology 2010;117:1199-206. |
| 4. | MarmorMF. A teenager with night blindness and cystic maculopathy: Enhanced Scone syndrome (Goldmann-Favre syndrome). Doc Ophthalmol.2006;113(3):213-215. doi:10.1007/s10633-006-9031-z. |
| 5. | Jacobson SG, Roman AJ, Roman MI, Gass JD, Parker JA. Relatively enhanced S cone function in the Goldmann -Favre syndrome. Am J Ophthalmol. 1991;111(4):446-453. doi:10.1016/s0002-9394(14)72379-7. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]
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