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endothelial keratoplasty in 200 eyes: early chal- A lenges and techniques to enhance donor adherence. J Cataract Refract Surg. 2006;32(3): 411-418. 4. Culbertson WW. Descemet stripping endothe- lial keratoplasy. Int Ophthalmol Clin. 2006;46 (3):155-168. 5. Ellis DR, Cohen KL. Sulfur hexafluoride gas in the repair of Descemet’s membrane detachment. Cornea. 1995;14(4):436-437. 6. Sorenson A. DSEK prolene pull. http://www .newmediamedicine.com/videos/2007/01/17 /dsek-prolene-pull-andrew-sorenson-md/. Ac- cessed March 18, 2007. Cherry Red Spot in Sialidosis (Mucolipidosis Type I) The differential diagnosis of a cherry red spot in the macula includes cen- tral retinal artery occlusion and metabolic storage diseases such as B Tay-Sachs disease, Sandhoff dis- ease, Niemann-Pick disease, Fabry disease, Gaucher disease, and siali- dosis. We report a case of an ado- lescent who, at a routine ophthal- mic examination, was found to have a cherry red spot in the maculae of both eyes. Laboratory investigation results showed that the patient had mucolipidosis type I, which is a rare lysosomal storage disease with clini- cal and histologic findings similar to C the mucopolysaccharidoses and the sphingolipidoses. Report of a Case. A 14-year-old white boy complained of difficulty seeing the blackboard at school. A screen- ing eye examination found de- creased distance vision in both eyes. He was of normal intelligence and his medical history was significant only Figure 3. Slitlamp photograph of case 3 at postoperative month 1 shows a clear cornea (A), and on for scoliosis and seasonal allergies. Vi- anterior segment optical coherence tomography (B and C [magnified view]), there is good apposition of sual acuity corrected to 20/20 OU. Re- the button. Note the large peripheral iridectomy inferiorly. sults of a dilated ophthalmoscopic ex- amination revealed a cherry red spot that needs further study. The poten- Correspondence: Dr Yoo, Cornea in both maculae (Figure). Fluores- tial for posterior dislocation of the and External Diseases, Bascom cein angiography demonstrated hy- donor corneal disc in aphakic eyes Palmer Eye Institute, 900 NW 17th pofluorescence around the foveal area must be taken into consideration. St, Miami, FL 33136 (syoo@med in the midvenous phase (eFigure 1, Longer-lasting, higher-buoyancy .miami.edu). available online at http://www gases (such as SF6) could be used as Financial Disclosure: None re- .archophthalmol.com). There was alternatives to air, but the possible ported. relative hyperfluorescence in the fo- toxic effect to endothelial cells veal area, but this was believed to rep- should be elucidated. 1. Melles GRJ, Wijdh RHJ, Nieuwendaal CP. A tech- resent a normal fluorescein pattern, nique to excise the Descemet membrane from a rather than pigment epithelial dis- Leejee H. Suh, MD recipient cornea (descemetorhexis). Cornea. 2004;23(3):286-288. ease. Optical coherence tomography George D. Kymionis, MD, PhD 2. Price FW, Price MO. Descemet’s stripping with showed increased reflectivity of the in- William W. Culbertson, MD endothelial keratoplasty in 50 eyes: a refractive ner retinal layers, corresponding to neutral corneal transplant. J Refract Surg. 2005; Terrence P. O’Brien, MD 21(4):339-345. the hypofluorescence on the fluores- Sonia H. Yoo, MD 3. Price FW, Price MO. Descemet’s stripping with cein angiogram (eFigure 2). Because (REPRINTED) ARCH OPHTHALMOL / VOL 126 (NO. 2), FEB 2008 WWW.ARCHOPHTHALMOL.COM 270 ©2008 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/26/2021 A B Figure. Color fundus photographs of the right (A) and left (B) eyes demonstrating the classic appearance of a cherry red spot in the maculae. of the patient’s normal visual acuity, (congenital form) or by the sec- scopic changes observed in our pa- symmetric changes, and lack of symp- ond decade (infantile form) of tient are due to an accumulation of toms, we suspected a metabolic stor- life.3 By contrast, patients with sialyloligosaccharides in the inner lay- age disorder. Laboratory test results type I disease are less severely ers of the retina. showed normal levels of ␤-galactosi- affected and typically develop dase, arylsulfatase A, hexosamini- symptoms of myoclonic epilepsy, J. Wesley Heroman, MD dase A and B, and ␤-galactocerebro- visual problems, and ataxia in the Paul Rychwalski, MD sidase. However, sialic acid levels were second or the third decade of life.4 Charles C. Barr, MD elevated in the urine. Examination re- Macular cherry red spots are Correspondence: Dr Barr, Depart- sults of a skin biopsy specimen re- always present and, therefore, sia- ment of Ophthalmology and Visual vealed a fibroblast ␣-neuraminidase lidosis should be included in the Sciences, University of Louisville, level of 0.5 nmoles/h per milligram of differential diagnosis of a cherry 301 E Muhammad Ali Blvd, Louis- protein (reference range, 15.0-30.0 red macula in this clinical setting. ville, KY 40202 ([email protected]). nmoles/h per milligram of protein). Diagnostic evaluation for a patient Financial Disclosure: None re- Based on these findings, a diagnosis with a cherry red spot in the ported. of sialidosis (mucolipidosis type I) macula not due to arterial occlu- Additional Information: The eFig- was made. sion should include a genetic his- ures are available at http://www tory and an appropriate laboratory .archophthalmol.com. Comment. Sialidosis (mucolip- workup to confirm the underlying 1. Cantz M, Gehler J, Spranger J. Mucolipidosis I: idosis type I) is a rare inherited cause. increased sialic acid content and deficiency of lysosomal storage disease char- an ␣-N-acetylneuraminidase in cultured acterized by deficiency of ␣-N- Conclusions. We herein present a fibroblasts. Biochem Biophys Res Commun. 1977; 74(2):732-738. acetylneuraminidase (sialidase) in rare case of a 14-year-old boy with 2. Sphranger J, Gehler J, Cantz M. Mucolipidosis leukocytes and cultured fibro- mucolipidosis type I who had cherry I: a sialidosis. Am J Med Genet. 1977;1(1): 1 21-29. blasts. This results in intracellular red spots in the maculae of both eyes. 3. Till JS, Roach E, Burton B. Sialidosis (neuramini- storage of excess sialyloligosac- The patient had minimal symptoms dase deficiency) types I and II: neuro- charides and is histologically and visual acuity correctable to 20/20 ophthalmic manifestations. J Clin Neuroophthalmol. 1987;7(1):40-44. observed as abnormal vacuoliza- OU. Of interest in this case are the 4. Federico A, Cecio A, Battini GA, Michalski JC, tion of various cell types. Two fluorescein angiogram and optical Strecker G, Guazzi GC. Macular cherry-red spot and myoclonus syndrome: juvenile form of major phenotypes of mucolipido- coherence tomogram findings. sialidosis. J Neurol Sci. 1980;48(2):157-169. sis exist: type I or the cherry red The fluorescein angiogram shows 5. Allegranza A, Tredici G, Marmiroli P, di Donato spot myoclonus syndrome, and a blocked fluorescence surrounding the S, Franceschetti S, Mariani C. Sialidosis type I: pathological study in an adult. Clin Neuropathol. more severe infantile form, type fovea throughout the angiogram 1989;8(6):266-271. II. Sialidosis has an autosomal (eFigure 1). The optical coherence to- recessive pattern of inheritance, mogram shows increased reflectiv- and the gene has been localized ity in the ganglion cell layer corre- on chromosome 6p21.2 It occurs sponding to the blocked fluorescence Macular Retinal in 1 of every 2 200 000 live births. (eFigure 2). Although pathological Detachment in Patients with type II disease have confirmation is lacking in this case, Hallermann-Streiff somatic changes, characterized by a previous autopsy report of a pa- Syndrome coarse facies, hepatolomegaly, tient with mucolipidosis type I dem- bony changes of dysostosis multi- onstrated diffuse intracytoplasmic ac- Hallermann-Streiff syndrome (also plex, and developmental delay. cumulation of lipofuscinlike pigment known as oculomandibulofacial syn- Patients with type II disease usu- in the cerebral neurons.5 This leads drome) is a rare syndrome chiefly ally die within the first 2 years us to speculate that the ophthalmo- comprising facial and ocular abnor- (REPRINTED) ARCH OPHTHALMOL / VOL 126 (NO. 2), FEB 2008 WWW.ARCHOPHTHALMOL.COM 271 ©2008 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/26/2021.
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  • Sialidosis Type I Presenting with a Novel Mutation and Advanced Neuroimaging Features

    Sialidosis Type I Presenting with a Novel Mutation and Advanced Neuroimaging Features

    Case Reports Sialidosis type I presenting with a novel mutation and advanced neuroimaging features Murat Gultekin, MD, Ruslan Bayramov, MD, Cagatay Karaca, MD, Niyazi Acer, PhD. ABSTRACT Received 16th July 2017. Accepted 29th November 2017. Address correspondence and reprint request to: Dr. Murat Gultekin, ,Department of Neurology, Erciyes University School of Medicine داء اللعاب هو مرض تخزين نورامينيداز النادر والناجمة عن طفرة Kayseri, Turkey. E-mail: [email protected] جينات نيورامينيداز (NEU1) ونقص في أنزمي نورامينيداز. وكان الهدف من هذه الدراسة هو دراسة نوع داء اللعاب الدماغي النوع األول باستخدام التصوير بالرنني املغناطيسي )MRI(، التصوير #ialidosis )Neuraminidase deficiency, OMIM االنتشاري للعضلة والتصوير بالرنني املغناطيسي الوظيفي باملقارنة S256550( is a rare autosomal recessive disease with مع 3 التحكم. وحدد حتليل اجلني للمريض طفرة متغايرة مركب approximate prevalence of 1/5,000,000-1/1,500,000 في NEU1 الذي يظهر أنه يرتبط مع نوع داء اللعاب 1. في (live births, related to neuraminidase gene (NEU1 هذه احلالة نادرا جدا ، وجدنا تغيرات في حجم الهياكل الدماغ )OMIM * 608272( pathogenic variants, leading to 1 املختلفة. وجدنا أن أحجام النواة حتت املهاد أصغر في املريض 1 neuraminidase )EC 3.2.1.18( deficiency. Due to age ;of onset and severity, Sialidosis divided into 2 types مقارنة مع التحكم. أيضا، كان داء اللعاب أصغر حجم املخيخ milder, late-onset, non-dysmorphic form, characterized مقارنة مع مجموعة السيطرة بشكل ملحوظ. وكانت احلالة أعلى ,by macular cherry-red spot, visual defects, myoclonus معدل االنتشار ونسبة قيم أقل لتفاوت االنكسار في املخيخ وظهر -ataxia, and seizures - Sialidosis type 1 and severe, early اتصال وظيفي غير طبيعي. onset, dysmorphic form - Sialidosis type 2.2 Myoclonic Sialidosis is a rare lysosomal storage disease caused movements are known to have many possible causes.