Scleral Lenses Versus Surgery for Ptosis in Progressive External Ophthalmoplegia Plus Respectively Kearns-Sayre Syndrome

Letters to the Editor Downloaded from http://journals.lww.com/jneuro-ophthalmology by BhDMf5ePHKav1zEoum1tQfN4a+kJLhEZgbsIHo4XMi0hCywCX1AWnYQp/IlQrHD3i3D0OdRyi7TvSFl4Cf3VC1y0abggQZXdgGj2MwlZLeI= on 05/04/2022 visual fields were performed at further distances (i.e., there was appropriate widening of the visual field). In our practice, idiopathic intracranial hypertension oftentimes presents similarly to this patient with decreased vision, constricted visual fields, and symptoms of increased intracranial pressure (headaches, tinnitus, whooshing sensation, and transient visual obscurations). The only difference between the typical patients we see and the patient we reported was the lack of optic disc edema in either eye. The objective features in this case that support the presence of elevated intracranial pressure are the initial lack of spontaneous venous pulsations (SVPs) (with presence of SVP at her most recent follow-up after fenestration), dilation of both nerve sheaths with globe flattening on one side on the MRI, and the significant enlargement of the retrobulbar nerve sheath with a significant fluid flow or “gush” during the optic nerve sheath fenestration (ONSF). The fluid flow during ONSF was of similar caliber to patients who underwent ONSF with grade IV disc edema. We are still unclear why anatomically this fluid was not transmitted to the nerve head itself, but the presence of this fluid can lead to compression-induced ischemia of the retinal ganglion cells (4). Although the presence of optic nerve pallor or a decline in retinal nerve fiber layer (RNFL) thickness would lend further objective data, it was impossible to know what her true RNFL baseline thickness was before the onset of her headaches and visual loss. Our evaluation was approximately 2 weeks after her initial visit to the emergency department and was a few days after she had a significant loss of vision and field of vision. Furthermore, the time from our initial RNFL imaging to surgical intervention was short and may have led to relative preservation of her RNFL without further loss. Our patient recently underwent a neurosurgical shunting procedure with complete resolution of her chronic headaches. We believe a presentation of severe vision and visual field loss in IIHWOP is not common or typical but should be considered if the remainder of the examination and workup is suggestive. Scleral Lenses Versus Surgery for Ptosis in Progressive External Ophthalmoplegia Plus Respectively Kearns–Sayre Syndrome chondrial DNA (mtDNA) deletions (2), they are phenotypically distinct entities. KSS is diagnosed in the presence of all 3 core features (onset before age 20, ophthalmoplegia, and pigmentary retinopathy) and at least one of the following features: cerebrospinal fluid protein .100 mg/dL, cardiac conduction defects, or cerebellar dysfunction (3). CPEO-plus is defined as ophthalmoplegia and additional features, which do not meet the diagnostic criteria for KSS. Thus, we disagree with the notion that CPEO-plus is the same as KSS. Distinct clinical and genetic criteria for diagnosing KSS or CPEO-plus need to be accomplished before diagnosing either condition. We should know which diagnostic criteria the index patient met. We disagree that young age and expected recurrent ptosis procedures are arguments against ptosis surgery. KSS patients have a reduced life expectancy, particularly those who develop ventricular arrhythmias or heart failure, why young age does not matter. In addition, W e read with interest the article by Cherny et al (1) about a 28-year-old woman with bilateral ptosis since 17 years due to chronic progressive external ophthalmoplegia (CPEO), respectively Kearns–Sayre syndrome (KSS). Because the patient was regarded as not being an ideal patient for ptosis correction surgery due to not tolerating ptosis crutches, diplopia with lid lifting, and young age with a significant likelihood for multiple ptosis procedures, she was treated with BostonSight scleral lenses with a beneficial effect (1). We have the following comments and concerns. It is unclear if the patient had CPEO-plus or KSS. Although both are most frequently due to single mito- 136 Stacy M. Scofield-Kaplan, MD Kishan G. Patel, MD Freddie Ray Jones, Jr, MD Robert Nick Hogan, MD, PhD Department of Ophthalmology, UT Southwestern Medical Center, Dallas, Texas The authors report no conflicts of interest. REFERENCES 1. Scofield-Kaplan SM, Patel KG, Jones FR Jr, Hogan RN. Idiopathic intracranial hypertension without papilledema with improvement in visual field defect following optic nerve sheath fenestration. J Neuroophthalmo. 2021;41:e31–e33. 2. Digre KB, Nakamoto BK, Warner JE, Langeberg WJ, Baggaley SK, Katx BJ. A comparison of idiopathic intracranial hypertension with and without papilledema. Headache. 2009;49:185–193. 3. Hoffmann J, Mollan SP, Paemeleire K, Lampl C, Jensen RH, Sinclair AJ. European Headache Federation guideline on idiopathic intracranial hypertension. J Headache Pain. 2018;19:93. 4. Hayreh SS. Optic disc edema in raised intracranial pressure. V. Pathogenesis. Arch Ophthalmol. 1977;95:1553–1565. Letters to the Editor: J Neuro-Ophthalmol 2021; 41: 135-140 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited. Letters to the Editor most KSS patients and some of the CPEO-plus patients develop cerebellar ataxia, making handling of scleral lenses difficult. Particularly for the later reason we rather propose KSS patients to undergo ptosis surgery than wearing scleral lenses for ptosis correction. A further argument against the scleral lenses in KSS patients is that many of them develop retinitis pigmentosa resulting in visual impairment, further impeding the handling of the lenses. Particularly missing in the study is the genetic diagnosis of KSS or CPEO-plus. We should know the genetic cause of KSS or CPEO-plus in the index patient. Although single mtDNA deletions occur sporadically in 94% of the patients (4), we should know if the family history of the index patient was taken and if it was positive for a mitochondrial disorder. Because the severity of cardiac involvement is the lifelimiting factor in KSS (5), we should know if the patient had cardiac involvement and if she had undergone implantation of a pacemaker or an implantable cardioverter defibrillator already. Overall, although ptosis correction with scleral lenses could be a therapeutic option in some of the KSS respectively CPEO-plus patients, we recommend surgery in case of a patient with KSS. This is because of the progressive nature of the disease, ataxia, visual impairment, and the reduced life expectancy. Only in KSS patients who are not limited by these restrictions, the temporary use of scleral lenses could be tried. Author contribution: J. Finsterer: concept, writing literature search, and discussion; F.S.: literature search, critical remarks, and discussion. Severe Chronic Progressive External Ophthalmoplegia–Associated Ptosis Successfully Treated With Scleral Lenses: Response enced respiratory, gastrointestinal, and dysautonomic symptoms. As has previously been noted for both KSS and CPEO-plus, the patient's genetic report confirmed a single mitochondrial DNA (mtDNA) deletion (7). Further confirmation of her diagnosis would involve a muscle biopsy, which the patient had been offered but refused, and analysis of cerebrospinal fluid protein (4,8). Although, as Dr. Finsterer states, cardiac involvement may limit life expectancy in patients with KSS (1), this limitation is likely overcome by pacemaker implantation in pertinent patients. Notably, our patient does not have any evidence of cardiac block at this time. Furthermore, prognosis for KSS patients varies based on degree of organ involvement and proportion of pathologic mtDNA, and with appropriate management, a normal lifespan may be achieved (9). Given these factors, along with the intention to enhance quality of life for each patient, treatment should be individualized to the needs of the particular patient. This may include changes in treatment options and benefits over the course of a patient's lifetime. In this particular case, the patient is able to tolerate the lenses and handles them with relative ease. Notably, W e thank Dr. Finsterer for his close reading of our clinical correspondence. As noted by Dr. Finsterer, diagnostic criteria for Kearns–Sayre syndrome (KSS) include onset before 20 years of age, chronic progressive external ophthalmoplegia, and pigmentary retinopathy (1,2). The patient in the present case did indeed meet all 3 of these criteria, in addition to the following clinical features associated with KSS: cerebellar ataxia, myopathy, hearing loss, oropharyngeal weakness, and possible cognitive decline (2–4). However, the patient also presented with additional multisystemic findings that are not classically associated with KSS but may rather place her on a spectrum with KSS and chronic progressive external ophthalmoplegia plus (CPEO-plus), as has previously been described in the literature (2,4–6). In particular, the patient experi- Letters to the Editor: J Neuro-Ophthalmol 2021; 41: 135-140 Josef Finsterer, MD, PhD Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria The author reports no conflicts of interest. REFERENCES 1. Cherny C, Sherman SW, Dagi Glass LR. Severe chronic progressive external ophthalmoplegia-associated ptosis successfully treated with scleral lenses. J Neuroophthalmol. 2020 (epub ahead of print). doi:10.1097/WNO.0000000000000966. 2. Rodríguez-López C, García-Cárdaba LM, Blázquez A, SerranoLorenzo P, Gutiérrez-Gutiérrez G, Millán-Tejado BS, Muelas N, Hernández-Laín A, Vílchez JJ, Gutiérrez-Rivas E, Arenas J, Martín MA, Domínguez-González C. Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia. J Med Genet. 2020 (epub ahead of print). doi:10.1136/jmedgenet-2019-106649. 3. Finsterer J. Kearns-Sayre Syndrome: Handbook of Mitochondrial Dysfunction. Boca Raton, FL: Taylor and Francis Group; 2019. 4. Poulton J, Finsterer J, Yu-Wai-Man P. Genetic counselling for maternally inherited mitochondrial disorders. Mol Diagn Ther. 2017:21419–21429. 5. Imamura T, Sumitomo N, Muraji S, Mori H, Osada Y, Oyanagi T, Kojima T, Yoshiba S, Kobayashi T, Ono K. The necessity of implantable cardioverter defibrillators in patients with KearnsSayre syndrome—systematic review of the articles. Int J Cardiol. 2019;279:105–111. 137 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited.