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Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy.

Papavasileiou E, Lobo AM - J Ophthalmic Inflamm Infect (2015)

Bottom Line: A 40-year-old male with history of facioscapulohumeral muscular dystrophy with significant facial diplegia and lagophthalmos presents for an evaluation of bilateral choroiditis with vasculitis and optic disc edema.Clinical examination included fundus and autofluorescence photographs, fluorescein angiography, and optical coherence tomography.To our knowledge, this patient represents the first reported case of birdshot chorioretinopathy with facioscapulohumeral muscular dystrophy.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA USA.

ABSTRACT
We report a case of birdshot chorioretinopathy (BSCR) in a patient with facioscapulohumeral muscular dystrophy (FSHD). A 40-year-old male with history of facioscapulohumeral muscular dystrophy with significant facial diplegia and lagophthalmos presents for an evaluation of bilateral choroiditis with vasculitis and optic disc edema. Clinical examination included fundus and autofluorescence photographs, fluorescein angiography, and optical coherence tomography. To our knowledge, this patient represents the first reported case of birdshot chorioretinopathy with facioscapulohumeral muscular dystrophy. Patients with FSHD can present with ocular findings and should be screened with dilated fundus examinations for retinal vascular changes and posterior uveitis.

No MeSH data available.


Related in: MedlinePlus

Fluorescein angiography and OCT image. (a,b) Fluorescein angiography photo of the right eye demonstrated staining and leakage of fluorescein in the central and peripheral vessels, and staining of the optic nerve head. OCT image at the macula area of the right (c) and left (d) eye showed no evidence of cystoid macular edema or subretinal fluid at the macula area. There are no changes in the macular architecture, such as loss of the photoreceptor layer. OCT image at the optic nerve head area of the right (e) and left (f) eye showed elevation of the optic disc.
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Fig2: Fluorescein angiography and OCT image. (a,b) Fluorescein angiography photo of the right eye demonstrated staining and leakage of fluorescein in the central and peripheral vessels, and staining of the optic nerve head. OCT image at the macula area of the right (c) and left (d) eye showed no evidence of cystoid macular edema or subretinal fluid at the macula area. There are no changes in the macular architecture, such as loss of the photoreceptor layer. OCT image at the optic nerve head area of the right (e) and left (f) eye showed elevation of the optic disc.

Mentions: Fluorescein angiography was notable for diffuse retinal perivascular and optic disc leakage (Figure 2a,b). OCT imaging revealed bilateral optic disc elevation (Figure 2e,f), but no macular edema or subretinal fluid (Figure 2c,d). Full-field electroretinogram testing was normal for the right eye, with the exception of prolonged implicit time of the b-wave maximal response, and abnormal for the left eye, with reduced amplitudes of the isolated and maximal rod responses and a significantly prolonged 30 Hz cone flicker implicit time.Figure 2


Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy.

Papavasileiou E, Lobo AM - J Ophthalmic Inflamm Infect (2015)

Fluorescein angiography and OCT image. (a,b) Fluorescein angiography photo of the right eye demonstrated staining and leakage of fluorescein in the central and peripheral vessels, and staining of the optic nerve head. OCT image at the macula area of the right (c) and left (d) eye showed no evidence of cystoid macular edema or subretinal fluid at the macula area. There are no changes in the macular architecture, such as loss of the photoreceptor layer. OCT image at the optic nerve head area of the right (e) and left (f) eye showed elevation of the optic disc.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4385199&req=5

Fig2: Fluorescein angiography and OCT image. (a,b) Fluorescein angiography photo of the right eye demonstrated staining and leakage of fluorescein in the central and peripheral vessels, and staining of the optic nerve head. OCT image at the macula area of the right (c) and left (d) eye showed no evidence of cystoid macular edema or subretinal fluid at the macula area. There are no changes in the macular architecture, such as loss of the photoreceptor layer. OCT image at the optic nerve head area of the right (e) and left (f) eye showed elevation of the optic disc.
Mentions: Fluorescein angiography was notable for diffuse retinal perivascular and optic disc leakage (Figure 2a,b). OCT imaging revealed bilateral optic disc elevation (Figure 2e,f), but no macular edema or subretinal fluid (Figure 2c,d). Full-field electroretinogram testing was normal for the right eye, with the exception of prolonged implicit time of the b-wave maximal response, and abnormal for the left eye, with reduced amplitudes of the isolated and maximal rod responses and a significantly prolonged 30 Hz cone flicker implicit time.Figure 2

Bottom Line: A 40-year-old male with history of facioscapulohumeral muscular dystrophy with significant facial diplegia and lagophthalmos presents for an evaluation of bilateral choroiditis with vasculitis and optic disc edema.Clinical examination included fundus and autofluorescence photographs, fluorescein angiography, and optical coherence tomography.To our knowledge, this patient represents the first reported case of birdshot chorioretinopathy with facioscapulohumeral muscular dystrophy.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA USA.

ABSTRACT
We report a case of birdshot chorioretinopathy (BSCR) in a patient with facioscapulohumeral muscular dystrophy (FSHD). A 40-year-old male with history of facioscapulohumeral muscular dystrophy with significant facial diplegia and lagophthalmos presents for an evaluation of bilateral choroiditis with vasculitis and optic disc edema. Clinical examination included fundus and autofluorescence photographs, fluorescein angiography, and optical coherence tomography. To our knowledge, this patient represents the first reported case of birdshot chorioretinopathy with facioscapulohumeral muscular dystrophy. Patients with FSHD can present with ocular findings and should be screened with dilated fundus examinations for retinal vascular changes and posterior uveitis.

No MeSH data available.


Related in: MedlinePlus