Oculopharyngeal Muscular Dystrophy Ptosis, Mueller’s Muscle Involvement, and a Review of Management Over 34 Years

Abstract

Purpose: To review the management of the ptosis associated with oculopharyngeal muscular dystrophy (OPMD) from one author’s experience over 34 years, demonstrate Mueller’s muscle involvement in this disease, and how this impacts the preferred choice of surgery. Methods: Retrospective, nonrandomized comparative case series. Forty patients with OPMD who underwent primary bilateral ptosis surgery through an anterior eyelid incision and had their Mueller’s muscle biopsied (one side) and sent for histopathologic analysis were selected for chart review. The main outcome measure was the presence or absence of dystrophic changes in the biopsied Mueller’s muscle. Results: In 29/40 biopsies (72.5%), there were dystrophic changes and fatty infiltration of Mueller’s muscle identified histopathologically. Conclusions: Mueller’s muscle is involved in the dystrophic process more often than expected contributing to ptosis in the OPMD syndrome. A combined Mueller’s-aponeurotic advancement is more effective at elevating the eyelid than simply advancing the aponeurosis when Mueller’s is fatty infiltrated at the time of external levator advancement surgery in our experience. Management strategies for ptosis surgery in OPMD are reviewed. The age of onset, levator muscle function, previous ptosis repair, how debilitated the patient is with their disease process systemically, as well as the presence of other eye problems (e.g., dry eye, prior glaucoma filtering procedures, history of corneal surgery, laser refractive procedure) are important clinical considerations in patients with OPMD.

Reply Re: “Oculopharyngeal Muscular Dystrophy Ptosis, Mueller’s Muscle Involvement, and a Review of Management Over 34 Years”

“…2 Their study states “the long-term outcome of this procedure is unclear.” 2 Our study on the other hand is based on the management of over 300 patients more than 34 years with long-term follow-up (years) in most. 1 As we noted, “there is no universally accepted algorithm” for correcting the drooping eyelids, OPMD ptosis can be quite challenging and any repair technique may potentially be associated with severe complications if the eyelid surgeon does not take a prudent approach with these patients. 1 Yes, there are alternative techniques as we suggested, and as suggested by Dr. Bunstine, which might be of benefit to a particular patient.…”

“…1 As we noted, “there is no universally accepted algorithm” for correcting the drooping eyelids, OPMD ptosis can be quite challenging and any repair technique may potentially be associated with severe complications if the eyelid surgeon does not take a prudent approach with these patients. 1 Yes, there are alternative techniques as we suggested, and as suggested by Dr. Bunstine, which might be of benefit to a particular patient. However, we encourage those caring for these patients to consider more than just levator excursion and corneal protection as the indications for surgery and appreciate how the disease is affecting them systemically as it may further alter surgical plans.…”

“…Not only did our study point out that successful ptosis correction in OPMD patients has been reported using several techniques including blepharoplasty techniques (Dr. Burnstine’s suggestion), levator resection/advancement techniques, frontalis sling surgery, and combined levator Mueller muscle advancement, but our study also emphasized that in some OPMD cases with severe ptosis, surgery may be contraindicated; for example, those patients with marked ophthalmoplegia, poor orbicularis function, no Bell’s phenomenon, and severe dry eye syndrome (i.e., the severest cases). 1 Unfortunately, the progressive nature of this disease may result in patients evolving from acceptable surgical candidates with reasonable postoperative results to cases where prior surgical intervention, orbicularis weakness, and ophthalmoplegia may contribute to eyelid closure and blinking issues, with severe corneal exposure requiring intense lubrication, punctal cautery, or permanent tarsorrhaphies. 1 In fact, those with upper limb muscular weakness may not even have enough strength to raise their arms and apply artificial tears, gels, or ointments making Dr. Burnstine’s other suggestions of ptosis crutches or Prosthetic Replacement of the Ocular Surface Epithelium lens with shelf very difficult to consider as alternate forms of treatment.…”

“…1 Unfortunately, the progressive nature of this disease may result in patients evolving from acceptable surgical candidates with reasonable postoperative results to cases where prior surgical intervention, orbicularis weakness, and ophthalmoplegia may contribute to eyelid closure and blinking issues, with severe corneal exposure requiring intense lubrication, punctal cautery, or permanent tarsorrhaphies. 1 In fact, those with upper limb muscular weakness may not even have enough strength to raise their arms and apply artificial tears, gels, or ointments making Dr. Burnstine’s other suggestions of ptosis crutches or Prosthetic Replacement of the Ocular Surface Epithelium lens with shelf very difficult to consider as alternate forms of treatment. Furthermore, Dr. Burnstine’s study on blepharoplasty for progressive myopathic blepharoptosis is based on only 6 patients with very limited follow-up (9.6 weeks, range 4–16).…”

“…Treatment should be based on degree of levator excursion and state of corneal protection.” Our study agrees but also goes further by emphasizing additional considerations that we think should be taken into account. 1 As outlined, our current approach to oculopharyngeal muscular dystrophy (OPMD) ptosis correction is tapered according to age at onset, levator muscle function, previous ptosis surgery, involvement of the orbicularis muscle or extraocular muscles, how debilitated the patient is with their disease process (i.e., systemic muscle involvement), as well as other ocular considerations including dry eye syndrome, prior glaucoma filtering procedures, history of corneal surgery, laser refractive procedures, etc. 1…”