Fig 3 - available via license: Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
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Retinography images of both eyes. Recent retinography (large) and retinography dated 1999 (small). Observe the large areas of chorioretinal atrophy and nummular lesions in the peripheral retina. Highlight the stability over time.
Source publication
Purpose
Case report of a Goldmann-Favre/Enhanced S Cone syndrome (GFS/ESCS) misdiagnosed for 30 years.
Observations
Clinical case, the patient had been experiencing with poor nocturnal visual acuity since childhood. The fundus examination showed extensive areas of peripheral chorioretinal atrophy with posterior demarcation borders, and a clinical...
Context in source publication
Context 1
... visual acuity of 20/200 in both eyes. Comparing current retinographies with those from 1999, there is no progress in the areas of chorioretinal atrophy. The autofluorescence images show hypofluorescence at the leading edge of the peripheral area of chorioretinal atrophy, with hyperautofluorescent spots adjacent to this edge and peripapillary area (Figs. 3 and 4). Optical coherence tomography (OCT) scan shows full thickness retinal atrophy without foveal involvement (Fig. ...
Citations
... СГФ -это аутосомно-рецессивное витреоретинальное дегенеративное заболевание, связанное с мутацией в гене NR2E3 [19] и проявляющееся никталопией и прогрессирующим снижением зрительных функций. Характеризуется гиперпигментацией вдоль сосудистых аркад, участками хориоретинальной атрофии, фовеошизисом и оптически пустым стекловидным телом с преретинальными мембранами. ...
... Observational studies ЭРГ бывает сложно провести различие между СГФ и АтГ [19]. В нашем случае не было обнаружено изменений в стекловидном теле, отсутствовала гиперпигментация вдоль сосудистых аркад, а участки хориоретинальной атрофии были резко очерченными и типичными для АтГ. ...
Gyrate chorioretinal atrophy (GCA) is a rare hereditary disease with certain complications; one extremely rare complication of GCA is foveoschisis. For the first time in Russian ophthalmology, a 10-year-old female child has been described to have genetically verified GCA associated with the OAT gene in combination with ornithinemia and foveoschisis. The diagnosis was made on the basis of fundus examination, perimetry data, autofluorescence, optical coherence tomography, fluorescence angiography, electroretinography, mass spectrometry with confirmation by molecular genetic research. The presented clinical case illustrates the need for an interdisciplinary approach to the diagnosis of GCA with diagnostic algorithm involving various examination methods and doctors of different specialties.
