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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

Color fundus and autofluorescence. Color fundus wide-field photo of the right eye (a) and left eye (b) showed multiple cream-colored circumscribed lesions with indistinct borders, most notably nasal to disc (arrows). Fundus autofluorescence photo of the right eye (c) and left eye (d) showed RPE atrophy at the posterior pole affecting the macula area that did not correspond to the hypopigmented birdshot lesions. The RPE atrophy as suggested by hypoautofluorescence was noted not only in the areas of hypopigmented lesions but also in the areas where there appeared to be no hypopigmented lesions. The arrows show the borders of the abnormal autofluorescence at the posterior pole.
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Fig1: Color fundus and autofluorescence. Color fundus wide-field photo of the right eye (a) and left eye (b) showed multiple cream-colored circumscribed lesions with indistinct borders, most notably nasal to disc (arrows). Fundus autofluorescence photo of the right eye (c) and left eye (d) showed RPE atrophy at the posterior pole affecting the macula area that did not correspond to the hypopigmented birdshot lesions. The RPE atrophy as suggested by hypoautofluorescence was noted not only in the areas of hypopigmented lesions but also in the areas where there appeared to be no hypopigmented lesions. The arrows show the borders of the abnormal autofluorescence at the posterior pole.

Mentions: On presentation, visual acuities were 20/30 in both eyes (OU). Intraocular pressures were normal. External examination revealed significant facial diplegia and lagophthalmos. The slit-lamp examination showed bilateral nasal and temporal pterygia. Fundus examination showed 2+ cells in the anterior vitreous and 1+ vitreous haze, vascular sheathing, few scattered pinpoint hemorrhages, and multiple cream-colored circumscribed lesions, most notably nasal to the disc OU (FigureĀ 1a,b).Figure 1


Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy.

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

Color fundus and autofluorescence. Color fundus wide-field photo of the right eye (a) and left eye (b) showed multiple cream-colored circumscribed lesions with indistinct borders, most notably nasal to disc (arrows). Fundus autofluorescence photo of the right eye (c) and left eye (d) showed RPE atrophy at the posterior pole affecting the macula area that did not correspond to the hypopigmented birdshot lesions. The RPE atrophy as suggested by hypoautofluorescence was noted not only in the areas of hypopigmented lesions but also in the areas where there appeared to be no hypopigmented lesions. The arrows show the borders of the abnormal autofluorescence at the posterior pole.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Fig1: Color fundus and autofluorescence. Color fundus wide-field photo of the right eye (a) and left eye (b) showed multiple cream-colored circumscribed lesions with indistinct borders, most notably nasal to disc (arrows). Fundus autofluorescence photo of the right eye (c) and left eye (d) showed RPE atrophy at the posterior pole affecting the macula area that did not correspond to the hypopigmented birdshot lesions. The RPE atrophy as suggested by hypoautofluorescence was noted not only in the areas of hypopigmented lesions but also in the areas where there appeared to be no hypopigmented lesions. The arrows show the borders of the abnormal autofluorescence at the posterior pole.
Mentions: On presentation, visual acuities were 20/30 in both eyes (OU). Intraocular pressures were normal. External examination revealed significant facial diplegia and lagophthalmos. The slit-lamp examination showed bilateral nasal and temporal pterygia. Fundus examination showed 2+ cells in the anterior vitreous and 1+ vitreous haze, vascular sheathing, few scattered pinpoint hemorrhages, and multiple cream-colored circumscribed lesions, most notably nasal to the disc OU (FigureĀ 1a,b).Figure 1

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