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Research Letters |

Subclinical Facioscapulohumeral Muscular Dystrophy Masquerading as Bilateral Coats Disease in a Woman FREE

Sushma K. Vance, MD; Kenneth J. Wald, MD; Jerome Sherman, OD; K. Bailey Freund, MD
[+] Author Affiliations

Author Affiliations: LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear, and Throat Hospital and Vitreous Retina Macula Consultants of New York (Drs Vance and Freund), Department of Ophthalmology, New York University Medical Center (Dr Wald), and Department of Optometry, State University of New York College of Optometry (Dr Sherman), New York.


Arch Ophthalmol. 2011;129(6):805-820. doi:10.1001/archophthalmol.2011.124.
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Published online

Coats disease is a nonhereditary retinal vasculopathy that typically occurs unilaterally in young males. We describe a unique case of a woman with bilateral Coats disease–like retinal changes and subclinical facioscapulohumeral disease (FSHD).

A 39-year-old woman with an unremarkable medical and ocular history had a routine eye examination. She denied any family history of hereditary systemic or ocular disease. Visual acuity was 20/20 OU. The slitlamp examination results and intraocular pressures were normal. Funduscopic examination of the right eye revealed a normal posterior pole with subtle sheathing of retinal vessels without exudation in the far inferotemporal periphery (Figure, A). Funduscopic examination of the left eye also revealed a normal posterior pole with an area of fibrovascular tissue surrounded by lipid exudation in the far temporal periphery (Figure, B). The patient underwent wide-field fluorescein angiography (Optos P200, Optos PLC, Dunferline, Scotland) to obtain superior images from the far periphery (Figure, C and D). The wide-field fluorescein angiogram showed bilateral temporal retinal telangiectasia, aneurysms, and peripheral nonperfusion with leakage and staining of the fibrovascular lesion in the left eye (Figure, C and D). Results of a comprehensive medical workup for infectious and inflammatory causes were negative. Owing to reports of a relationship between bilateral Coats disease–like retinal vascular changes and FSHD, the patient underwent genetic testing for this muscular dystrophy. Genetic testing demonstrated a deletion in chromosome 4q35 and resulted in 27–kilobase (kb) and 24-kb band fragments following digestion with Eco R1 and double digestion with Eco R1/ Bln I, respectively. These findings provided molecular confirmation of FSHD in our patient. However, neurological examination and electromyography did not show any abnormalities. The patient denied having any hearing deficits. A formal audiology examination was not performed.

Place holder to copy figure label and caption
Figure.

Wide-field color photographs and fluorescein angiograms. A, Wide-field color photograph of the right eye demonstrates subtle sheathing of vessels (arrow) in the far inferotemporal periphery without exudation. B, Wide-field color photograph of the left eye shows an area of fibrovascular proliferation surrounded by lipid exudation in the far temporal periphery. C, Wide-field fluorescein angiogram of the right eye demonstrates retinal telangiectasia, aneurysms, and peripheral nonperfusion inferotemporally. D, Wide-field fluorescein angiogram of the left eye shows areas of retinal telangiectasia, aneurysms, and nonperfusion surrounding a temporal fibrovascular lesion.

Graphic Jump Location

Coats disease is a nonhereditary retinal vasculopathy associated with telangiectasia, aneurysms, capillary nonperfusion, and intraretinal and subretinal exudation. Most cases occur unilaterally in young males. However, there have been reports of Coats disease in adults, in females, and bilaterally.1 Patients with bilateral Coats disease–like changes may have an underlying systemic or hereditary disease process,2 most notably FSHD.3 Facioscapulohumeral disease is an autosomal dominant myopathy (with a high percentage of sporadic cases) characterized by progressive weakness in the facial, shoulder, and upper arm muscles that can be associated with retinal vascular changes in 50% to 75% of patients.2,4

Although bilateral Coats disease associated with severe FSHD has been reported in 3 girls,2,3 this has not previously been reported in the literature in an asymptomatic adult patient to our knowledge. Other diagnoses that can manifest similarly were also considered in this patient prior to genetic testing. They include vasoproliferative tumor, familial exudative vitreoretinopathy, dyskeratosis congenita, and Parry-Romberg syndrome. However, there were no feeder vessels (as are sometimes seen in vasoproliferative tumor), no family history of retinal disease (seen with familial exudative vitreoretinopathy), no bone marrow, skin, or nail abnormalities (found in dyskeratosis congenita), and no hemifacial atrophy (as in Parry-Romberg syndrome). Despite the unique manifestation, the clinical picture in conjunction with genetic testing suggested a Coats-like disease in association with FSHD. Genetic testing was critical as the patient did not initially show any symptoms of muscular dystrophy and did not manifest any electromyographic abnormalities.

Of interest is the subclinical nature of FSHD. There is a spectrum of severity in FSHD that appears to be under the influence of several factors. Females are less affected,5 as are earlier generations of affected family members.6 The infantile-onset form of FSHD is more severe and is more likely to exhibit features such as sensorineural hearing loss, which is generally absent in patients with the late-onset form of the disorder.7 The fragment size inversely correlates with the size of the deletion (the smaller the fragment, the larger the deletion). A larger deletion results in an earlier and more severe disease onset.6 In our patient, the lack of previously affected family members, relatively higher restriction digest fragment lengths (more severely affected patients usually have lengths of 10-18 kb), and female sex may explain the patient's subclinical manifestation. Also unusual is that in FSHD the myopathy generally manifests initially and the retinal changes, if present, are discovered only later during a screening ophthalmic examination.4 This is one of only 2 cases to our knowledge in which retinal findings were detected prior to the diagnosis of FSHD.3

Correspondence: Dr Freund, Vitreous Retina Macula Consultants of New York, 460 Park Ave, Fifth Floor, New York, NY 10022 (kbfnyf@aol.com).

Financial Disclosure: None reported.

Funding/Support: This study was supported by the Macula Foundation, Inc, New York, New York.

Shields  JAShields  CLHonavar  SGDemirci  H Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture. Am J Ophthalmol 2001;131 (5) 561- 571
PubMed Link to Article
Bindoff  LAMjellem  NSommerfelt  K  et al.  Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation. Neuromuscul Disord 2006;16 (9-10) 559- 563
PubMed Link to Article
Shields  CLZahler  JFalk  N  et al.  Neovascular glaucoma from advanced Coats disease as the initial manifestation of facioscapulohumeral dystrophy in a 2-year-old child. Arch Ophthalmol 2007;125 (6) 840- 842
PubMed Link to Article
Fitzsimons  RBGurwin  EBBird  AC Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy: a general association with genetic and therapeutic implications. Brain 1987;110 (pt 3) 631- 648
PubMed Link to Article
Zatz  MMarie  SKCerqueira  AVainzof  MPavanello  RCPassos-Bueno  MR The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females. Am J Med Genet 1998;77 (2) 155- 161
PubMed Link to Article
Lunt  PWJardine  PEKoch  MC  et al.  Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995;4 (5) 951- 958
PubMed Link to Article
Trevisan  CPPastorello  EErmani  M  et al.  Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function. Audiol Neurootol 2008;13 (1) 1- 6
PubMed Link to Article

Figures

Place holder to copy figure label and caption
Figure.

Wide-field color photographs and fluorescein angiograms. A, Wide-field color photograph of the right eye demonstrates subtle sheathing of vessels (arrow) in the far inferotemporal periphery without exudation. B, Wide-field color photograph of the left eye shows an area of fibrovascular proliferation surrounded by lipid exudation in the far temporal periphery. C, Wide-field fluorescein angiogram of the right eye demonstrates retinal telangiectasia, aneurysms, and peripheral nonperfusion inferotemporally. D, Wide-field fluorescein angiogram of the left eye shows areas of retinal telangiectasia, aneurysms, and nonperfusion surrounding a temporal fibrovascular lesion.

Graphic Jump Location

Tables

References

Shields  JAShields  CLHonavar  SGDemirci  H Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture. Am J Ophthalmol 2001;131 (5) 561- 571
PubMed Link to Article
Bindoff  LAMjellem  NSommerfelt  K  et al.  Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation. Neuromuscul Disord 2006;16 (9-10) 559- 563
PubMed Link to Article
Shields  CLZahler  JFalk  N  et al.  Neovascular glaucoma from advanced Coats disease as the initial manifestation of facioscapulohumeral dystrophy in a 2-year-old child. Arch Ophthalmol 2007;125 (6) 840- 842
PubMed Link to Article
Fitzsimons  RBGurwin  EBBird  AC Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy: a general association with genetic and therapeutic implications. Brain 1987;110 (pt 3) 631- 648
PubMed Link to Article
Zatz  MMarie  SKCerqueira  AVainzof  MPavanello  RCPassos-Bueno  MR The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females. Am J Med Genet 1998;77 (2) 155- 161
PubMed Link to Article
Lunt  PWJardine  PEKoch  MC  et al.  Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995;4 (5) 951- 958
PubMed Link to Article
Trevisan  CPPastorello  EErmani  M  et al.  Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function. Audiol Neurootol 2008;13 (1) 1- 6
PubMed Link to Article

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