Fundus Autofluorescence, Optical Coherence Tomography, and Electroretinogram Findings in Choroidal Sclerosis

Abstract

Purpose To describe fundus autofluorescence, optical coherence tomography, and electroretinogram findings in choroidal sclerosis. Methods Retrospective case series. Eight eyes of four patients with choroidal sclerosis were evaluated with fundus autofluorescence, optical coherence tomography, and electroretinogram testing. Results In all eight eyes, fundus autofluorescence imaging revealed hypofluorescent placoid lesions corresponding to areas of chorioretinal atrophy seen on stereo biomicroscopy. Prominent hyperfluorescent linear markings underlying regions of atrophic disease were observed in all eyes, likely representative of normal choroidal vessel autofluorescence. In two eyes, fundus autofluorescence revealed punctate hypofluorescent lesions in the fovea that were not visualized on biomicroscopy. In one eye, fundus autofluorescence identified a central island of preserved retinal pigment epithelium that was not appreciated on ophthalmoscopic examination. Optical coherence imaging was significant for loss of choroidal fine tubular structures, retinal pigment epithelium, and outer nuclear layer in regions of chorioretinal atrophy. Full-field electroretinogram testing demonstrated generalized rod-cone dysfunction in all patients with a lower b- to a- wave ratio in two patients. Conclusion Fundus autofluorescence and optical coherence tomography are noninvasive diagnostic adjunct that can aid in the diagnosis of choroidal sclerosis. Fundus autofluorescence may be a more sensitive marker of disease extent and progression than clinical exam alone. Electroretinogram testing can result in an electronegative maximal response.

Multicolor imaging in central serous chorioretinopathy – a quantitative and qualitative comparison with fundus autofluorescence

“…Choroidal vessels have been visualized as hyperautofluorescent linear lines on short-wavelength FAF in studies in the past. This FAF finding has been typically described in conditions (choroidal sclerosis and high myopia) wherein the RPE and choriocapillaris have undergone thinning and hence led to enhanced visualization of underlying larger choroidal vessels 28,29 . We observed similar findings in one of our subjects wherein diffuse RPE and choriocapillaris atrophy secondary to CSCR lead to clearly visible hyperautofluorescent pachyvessels on FAF (bottom right Fig.…”

Multicolor imaging in central serous chorioretinopathy – a quantitative and qualitative comparison with fundus autofluorescence

“…Choroidal vessels have been visualized as hyperautofluorescent linear lines on short-wavelength FAF in studies in the past. This FAF finding has been typically described in conditions (choroidal sclerosis and high myopia) wherein the RPE and choriocapillaris have undergone thinning and hence led to enhanced visualization of underlying larger choroidal vessels 28,29 . We observed similar findings in one of our subjects wherein diffuse RPE and choriocapillaris atrophy secondary to CSCR lead to clearly visible hyperautofluorescent pachyvessels on FAF (bottom right Fig.…”

Hyperreflective Choroidal Vessels in Geographic Atrophy Secondary to Age-Related Macular Degeneration

“…On CFP, vessels with similar reflectivity were observed in patients with a condition called "choroidal sclerosis." 15,16 In the original detections by Sarks, 15 the histopathology confirmed that choroidal vessels were sclerotic in one example but not in the other. Furthermore, in the study by Hwang et al, 16 it is explained how the term choroidal sclerosis is a misnomer.…”

“…15,16 In the original detections by Sarks, 15 the histopathology confirmed that choroidal vessels were sclerotic in one example but not in the other. Furthermore, in the study by Hwang et al, 16 it is explained how the term choroidal sclerosis is a misnomer. So, despite the similarities with choroidal sclerosis in our description of patients with GA, considering we do not have the histopathological confirmation of vessels sclerosis, we suggest to call our finding with a descriptive terminology of HRCVs.…”

Clinical Characteristics of a Large Choroideremia Pedigree Carrying a Novel CHM Mutation

“…Our analysis of the mild female carriers also implied that the retinal photoreceptors or RPE may be the primary site of disease onset. Importantly, findings in this large family suggest that clinicians need to consider X-linked diseases even when severe pathology is seen in females, such as in cases of choroidal sclerosis (28), In these cases, careful analysis of the pedigree is important to examine the possibility of X-linked transmission.…”

Multicolor imaging in central serous chorioretinopathy – a quantitative and qualitative comparison with fundus autofluorescence

“…Choroidal vessels have been visualized as hyperautofluorescent linear lines on short-wavelength FAF in studies in the past. This FAF finding has been typically described in conditions (choroidal sclerosis and high myopia) wherein the RPE and choriocapillaris have undergone thinning and hence led to enhanced visualization of underlying larger choroidal vessels 28,29 . We observed similar findings in one of our subjects wherein diffuse RPE and choriocapillaris atrophy secondary to CSCR lead to clearly visible hyperautofluorescent pachyvessels on FAF (bottom right Fig.…”

Hyperreflective Choroidal Vessels in Geographic Atrophy Secondary to Age-Related Macular Degeneration

“…On CFP, vessels with similar reflectivity were observed in patients with a condition called "choroidal sclerosis." 15,16 In the original detections by Sarks, 15 the histopathology confirmed that choroidal vessels were sclerotic in one example but not in the other. Furthermore, in the study by Hwang et al, 16 it is explained how the term choroidal sclerosis is a misnomer.…”

“…15,16 In the original detections by Sarks, 15 the histopathology confirmed that choroidal vessels were sclerotic in one example but not in the other. Furthermore, in the study by Hwang et al, 16 it is explained how the term choroidal sclerosis is a misnomer. So, despite the similarities with choroidal sclerosis in our description of patients with GA, considering we do not have the histopathological confirmation of vessels sclerosis, we suggest to call our finding with a descriptive terminology of HRCVs.…”

Clinical Characteristics of a Large Choroideremia Pedigree Carrying a Novel CHM Mutation

“…Our analysis of the mild female carriers also implied that the retinal photoreceptors or RPE may be the primary site of disease onset. Importantly, findings in this large family suggest that clinicians need to consider X-linked diseases even when severe pathology is seen in females, such as in cases of choroidal sclerosis (28), In these cases, careful analysis of the pedigree is important to examine the possibility of X-linked transmission.…”

Multicolor imaging in central serous chorioretinopathy – a quantitative and qualitative comparison with fundus autofluorescence

“…Choroidal vessels have been visualized as hyperautofluorescent linear lines on short-wavelength FAF in studies in the past. This FAF finding has been typically described in conditions (choroidal sclerosis and high myopia) wherein the RPE and choriocapillaris have undergone thinning and hence led to enhanced visualization of underlying larger choroidal vessels 28,29 . We observed similar findings in one of our subjects wherein diffuse RPE and choriocapillaris atrophy secondary to CSCR lead to clearly visible hyperautofluorescent pachyvessels on FAF (bottom right Fig.…”

Hyperreflective Choroidal Vessels in Geographic Atrophy Secondary to Age-Related Macular Degeneration

“…On CFP, vessels with similar reflectivity were observed in patients with a condition called "choroidal sclerosis." 15,16 In the original detections by Sarks, 15 the histopathology confirmed that choroidal vessels were sclerotic in one example but not in the other. Furthermore, in the study by Hwang et al, 16 it is explained how the term choroidal sclerosis is a misnomer.…”

“…15,16 In the original detections by Sarks, 15 the histopathology confirmed that choroidal vessels were sclerotic in one example but not in the other. Furthermore, in the study by Hwang et al, 16 it is explained how the term choroidal sclerosis is a misnomer. So, despite the similarities with choroidal sclerosis in our description of patients with GA, considering we do not have the histopathological confirmation of vessels sclerosis, we suggest to call our finding with a descriptive terminology of HRCVs.…”

Clinical Characteristics of a Large Choroideremia Pedigree Carrying a Novel CHM Mutation

“…Our analysis of the mild female carriers also implied that the retinal photoreceptors or RPE may be the primary site of disease onset. Importantly, findings in this large family suggest that clinicians need to consider X-linked diseases even when severe pathology is seen in females, such as in cases of choroidal sclerosis (28), In these cases, careful analysis of the pedigree is important to examine the possibility of X-linked transmission.…”