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

Abstract

the entire reading frame of all 8 genes in this locus. This is unlikely to be explained on the basis of deep intronic mutations or regulatory element mutations given the normal results of reverse transcription-PCR. Normal reverse transcription-PCR results also rule out the possibility of gene rearrangement as a potential cause. Therefore, the causative mutation must reside in an as yet unannotated gene or intergenic regulatory element within the minimal linkage interval. Capture of this interval for subsequent next-generation sequencing is an attractive strategy that we are actively pursuing. Mutations in MFRP were first reported in patients with severe hyperopia. 2 While severe hyperopia is a major feature of PM, the anterior segment involvement in patients with MFRP mutations indicates that the phenotype is best described as nanophthalmos. 3 In addition, another MFRP mutation was described in patients who, in addition to PM, have retinitis pigmentosa, foveoschisis, and optic disc drusen. 6 Therefore, our finding of a novel mutation in 2 patients with the classic nonsyndromic PM phenotype represents the first evidence to date that MFRP is a bona fide nonsyndromic PM gene. While it is premature to draw any meaningful genotypephenotype correlation for MFRP-related PM, it is noteworthy that our missense mutation is milder than the truncating mutations that characterize the mutational spectrum of nanophthalmos and syndromic PM. Two other findings are worth highlighting. First, exclusion of linkage to MFRP and chromosome 2q37.1 in family 6 suggests the presence of yet another locus for this genetically heterogeneous condition. Second, the fact that none of the ethnically Saudi families have linkage to MFRP suggests a low frequency for mutations in this gene in this population. Both findings should encourage further research in the genetics of PM in Saudi Arabia, which is likely to identify important effectors of embryonic eye development.

Longitudinal Examination of Fellow-Eye Vascular Anomalies in Coats' Disease With Widefield Fluorescein Angiography: A Multicenter Study

“…We also need to remember that we studied idiopathic Coats' disease, and excluded Coats'-like retinopathies that can be seen in some systemic diseases or in association with other bilateral vitreoretinopathies or retinal degenerations. [8][9][10][11] The latter presentations of bilateral Coats'-like retinopathies tend to be more symmetric and are different entities from what we studied.…”

Longitudinal Examination of Fellow-Eye Vascular Anomalies in Coats' Disease With Widefield Fluorescein Angiography: A Multicenter Study

“…We also need to remember that we studied idiopathic Coats' disease, and excluded Coats'-like retinopathies that can be seen in some systemic diseases or in association with other bilateral vitreoretinopathies or retinal degenerations. [8][9][10][11] The latter presentations of bilateral Coats'-like retinopathies tend to be more symmetric and are different entities from what we studied.…”

Management of Coats-Like Disease in a Forty-Four-Year-Old Patient with FSHD Type I

“…The role of ophthalmologists in the follow-up of FSHD patients is pivotal for screening potential retinal manifestations of the disease. Interestingly, we found reports where routine ophthalmologic examination led to the diagnosis of subclinical FSHD based on initial retinal findings [13].…”

Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy

“…There have been reports that patients with bilateral Coats-like disease changes may have an underlying systemic or hereditary disease process, such as FSHD, incontinentia pigmenti, CRB1-associated retinal dystrophy, or familial exudative vitreoretinopathy [ 6 ]. Bilateral Coats disease associated with severe FSHD has been reported in an infant [ 6 ], three children [ 5 ], and an adult female [ 7 ]. Most patients have asymptomatic retinal telangiectasia found at ocular screening in adulthood after diagnosis of FSHD.…”

Longitudinal Examination of Fellow-Eye Vascular Anomalies in Coats' Disease With Widefield Fluorescein Angiography: A Multicenter Study

“…We also need to remember that we studied idiopathic Coats' disease, and excluded Coats'-like retinopathies that can be seen in some systemic diseases or in association with other bilateral vitreoretinopathies or retinal degenerations. [8][9][10][11] The latter presentations of bilateral Coats'-like retinopathies tend to be more symmetric and are different entities from what we studied.…”

Management of Coats-Like Disease in a Forty-Four-Year-Old Patient with FSHD Type I

“…The role of ophthalmologists in the follow-up of FSHD patients is pivotal for screening potential retinal manifestations of the disease. Interestingly, we found reports where routine ophthalmologic examination led to the diagnosis of subclinical FSHD based on initial retinal findings [13].…”

Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy

“…There have been reports that patients with bilateral Coats-like disease changes may have an underlying systemic or hereditary disease process, such as FSHD, incontinentia pigmenti, CRB1-associated retinal dystrophy, or familial exudative vitreoretinopathy [ 6 ]. Bilateral Coats disease associated with severe FSHD has been reported in an infant [ 6 ], three children [ 5 ], and an adult female [ 7 ]. Most patients have asymptomatic retinal telangiectasia found at ocular screening in adulthood after diagnosis of FSHD.…”

Longitudinal Examination of Fellow-Eye Vascular Anomalies in Coats' Disease With Widefield Fluorescein Angiography: A Multicenter Study

“…We also need to remember that we studied idiopathic Coats' disease, and excluded Coats'-like retinopathies that can be seen in some systemic diseases or in association with other bilateral vitreoretinopathies or retinal degenerations. [8][9][10][11] The latter presentations of bilateral Coats'-like retinopathies tend to be more symmetric and are different entities from what we studied.…”

Management of Coats-Like Disease in a Forty-Four-Year-Old Patient with FSHD Type I

“…The role of ophthalmologists in the follow-up of FSHD patients is pivotal for screening potential retinal manifestations of the disease. Interestingly, we found reports where routine ophthalmologic examination led to the diagnosis of subclinical FSHD based on initial retinal findings [13].…”

Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy

“…There have been reports that patients with bilateral Coats-like disease changes may have an underlying systemic or hereditary disease process, such as FSHD, incontinentia pigmenti, CRB1-associated retinal dystrophy, or familial exudative vitreoretinopathy [ 6 ]. Bilateral Coats disease associated with severe FSHD has been reported in an infant [ 6 ], three children [ 5 ], and an adult female [ 7 ]. Most patients have asymptomatic retinal telangiectasia found at ocular screening in adulthood after diagnosis of FSHD.…”