Title | Severe Chronic Progressive External Ophthalmoplegia-Associated Ptosis Successfully Treated With Scleral Lenses: Response |
Creator | Christina Cherny; Suzanne W. Sherman; Lora R. Dagi Glass |
Affiliation | State University of New York College of Optometry, New York, New York; Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York |
Subject | Blepharoptosis; Chronic Progressive External Ophthalmoplegia; Sclera |
OCR Text | Show Letters to the Editor Downloaded from http://journals.lww.com/jneuro-ophthalmology by BhDMf5ePHKav1zEoum1tQfN4a+kJLhEZgbsIHo4XMi0hCywCX1AWnYQp/IlQrHD3i3D0OdRyi7TvSFl4Cf3VC1y0abggQZXdtwnfKZBYtws= on 05/04/2022 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. Letters to the Editor the patient has enjoyed considerable improvement in her symptomatic dry eye syndrome because of the scleral lenses (conversely, ptosis surgery is a known risk for worsening dry eye). Furthermore, the patient expressed reticence for a surgical procedure, given her extensive list of ailments and history of medical procedures. Thus, although ptosis repair is a therapeutic option for patients experiencing CPEO-related ptosis, scleral lenses may be a viable nonsurgical alternative for certain patients and confer the added benefits of comfort and ocular surface protection. Thank you for the opportunity to discuss this case further. Christina Cherny, BS State University of New York College of Optometry, New York, New York Suzanne W. Sherman, OD Lora R. Dagi Glass, MD Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York The Department of Ophthalmology at Columbia University Irving Medical Center is funded by a nonrestricted grant from the Research to Prevent Blindness. The authors report no conflicts of interest. Oculomotor Palsy Due to Malignant Nerve Sheath Tumor: Aberrant Regeneration of the Third Nerve but Without Pupil Involvement O ur group thoroughly enjoyed the article from Professor Nancy Newman and her team, where they presented the very rare event of a third nerve palsy due to an intrinsic, malignant peripheral (oculomotor) sheath tumor. The literature demonstrates that this been reported on fewer than 10 occasions (1,2). It was very instructive to peruse the excellent photographs of their patient. Our group would like to make 2 observations accordingly. First, because the left upper lid was ptotic due to the third nerve palsy, the upper lid was passively elevated by the examiner's finger while the photograph was taken to demonstrate the pupil appearance and eye movements. This occurred in all the photographs except the top left photograph, where the patient is looking up to the right, 138 REFERENCES 1. Kearns-sayre syndrome. The Genetic and Rare Diseases Information Center (GARD). Available at https:// rarediseases.info.nih.gov/diseases/6817/kearns-sayresyndrome. Accessed June 8, 2020. 2. Pfeffer G, Sirrs S, Wade NK, Mezei MM. Multisystem disorder in late-onset chronic progressive external ophthalmoplegia. Can J Neurol Sci. 2011;38:119–123. 3. Barrera-Ramírez CF, Barragán-Campos HM, Ilarraza H, Iturralde P, Avila-Casado MC, Oseguera J. Afección cardíaca en el síndrome de Kearns-Sayre [Cardiac involvement in Kearns-Sayre syndrome]. Rev Esp Cardiol. 2005;58:443–446. 4. Goldstein A, Falk MJ. Mitochondrial DNA deletion syndromes. 2003 Dec 17 [Updated 2019 Jan 31]. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 1993–2020. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1203/. 5. Hanisch F, Kornhuber M, Alston CL, Taylor RW, Deschauer M, Zierz S. SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions. J Neurol Neurosurg Psychiatry. 2015;86:630–634. 6. Wabbels B, Ali N, Kunz WS, Roggenkämper P, Kornblum C. Chronisch-progressive externe Ophthalmoplegie und KearnsSayre-Syndrom: Interdisziplinäre Diagnostik und Therapie [Chronic progressive external ophthalmoplegia and KearnsSayre syndrome: interdisciplinary diagnosis and therapy]. Ophthalmologe. 2008;105:550–556. 7. Chong JW, Annuar AA, Wong KT, Thong MK, Goh KJ. Single mitochondrial DNA deletions in chronic progressive external ophthalmoplegia (CPEO) and Kearns-Sayre syndrome (KSS) patients from a multiethnic Asian population. Neurol Asia. 2014;19:27–36. 8. Sommer F, Fötzsch R, Pillunat LE, Wollensak G. Diagnostic and therapeutic problems in chronic progressive external ophthalmoplegia (CPEO). Klin Monbl Augenheilkd. 2003;220:315–319. 9. Kearns-Sayre syndrome. Orphanet: an online database of rare diseases and orphan drugs. Copyright, INSERM 1997. Available at https://www.orpha.net/consor/cgi-bin/OC_Exp.php? Lng=GB&Expert=480. Accessed June 4, 2020. the examiner's finger has elevated the upper lid. That maneuvre expressly prevented the readership from seeing whether there may have been left upper lid retraction in adduction, in adduction and downgaze, in adduction and upgaze, in downgaze, and in upgaze. However, in this top left photograph, the examiner's finger was on the brow, and the brows were of the same height as assessed by measuring vertical eyebrow height with a standard surgical ruler from the photograph. Therefore, the left upper lid seems to elevate in upgaze and adduction. This is entirely consistent with aberrant regeneration of the third nerve (Ab3), wherein Ab3 is well displayed in a schematic diagram (3). At the same time, there seemed to be no pupillary constriction in any of the fields of action of the extraocular muscles supplied by the oculomotor nerve. Our group questions whether, as there did indeed seem to be Ab3, the pupillary fibers might not be so definitively involved in patients with intrinsic peripheral nerve sheath tumors, as in their case. It is recognized that Ab3 tends to occur after a third nerve palsy in cases of tumor, trauma, or aneurysm. The literature is replete with descriptions of internal carotid/posterior Letters to the Editor: J Neuro-Ophthalmol 2021; 41: 135-140 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited. |
Date | 2021-03 |
Language | eng |
Format | application/pdf |
Type | Text |
Publication Type | Journal Article |
Source | Journal of Neuro-Ophthalmology, March 2021, Volume 41, Issue 1 |
Collection | Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
Publisher | Lippincott, Williams & Wilkins |
Holding Institution | Spencer S. Eccles Health Sciences Library, University of Utah |
Rights Management | © North American Neuro-Ophthalmology Society |
ARK | ark:/87278/s6rqett9 |
Setname | ehsl_novel_jno |
ID | 1765164 |
Reference URL | https://collections.lib.utah.edu/ark:/87278/s6rqett9 |