Characteristic features of advanced MCD, which have been described and connected to structural and histopathologic data, include hyperreflective areas of basal epithelial cells, rectilinear hyperreflective areas in the anterior stroma, a specific granular appearance to keratocytes and the extracellular matrix accompanied by dark striae of different lengths and orientations, and polymegethism of the corneal endothelial cells containing bright granules in their cytoplasm [19, 20]. (c) Confocal image at a depth of 120m. Additionally, the progression of deposits in the endothelial cell layer can eventually lead to endothelial decompensation and increased corneal thickness [1, 4, 5, 20,21,22, 28]. The results of the 6 mm keratometric and real higher order index analyses were borderline in both eyes, while the results of the 3 mm and 6 mm posterior higher-order index analyses were within the normal range. Graefes Arch Clin Exp Ophthalmol. 4. Despite the lack of visible stromal involvement on the slit lamp examination, corneal analysis based on confocal microscopy and optical coherence tomography revealed characteristic features of macular corneal dystrophy (MCD). CAS Al-Swailem SA, Al-Rajhi AA, Wagoner MD. 2016;35:160510. https://doi.org/10.1097/ico.0000000000002450. Williams K, Anne, Keane M, Claire, Coffey N, Elizabeth, Jones VJ, Mills RA, Coster DJ. Structural and biochemical aspects of keratan sulphate in the cornea. Eyes with corneal dystrophy develop cloudiness or opacities of the cornea of the eye that can lead to pain or discomfort and often to blurred vision. Natalie A Afshari, MD, MA, FACSStuart I Brown, MD, Chair in Ophthalmology In Memory of Donald P Shiley, Professor of Ophthalmology, Chief of Cornea and Refractive Surgery, Director of Education, Fellowship Program Director in Cornea and Refractive Surgery, Shiley Eye Center, University of California, San Diego, School of Medicine Alzuhairy S, Alkatan HM, Al-Rajhi AA. Suba S, Yksel N, Toprak M, Tuan BY. doi:https://doi.org/10.1007/s00417-010-1512-9. In patients suspected of corneal dystrophy, genetic testing plays an important role in establishing the final diagnosis and may provide encouraging results for future gene therapy. In the slit lamp examination, the probability of central corneal involvement, namely, involvement of the pupillary zone, is higher than that of peripheral corneal involvement. Macular corneal dystrophy is a bilateral cloudiness of the cornea along with opacitiesprimarily in the central layer of the cornea, the stroma. Whitish opacities in the cornea usually appear during adolescence but may develop in early infancy, or as late as the 6th decade of life. Stone EM, Aldave AJ, Drack AV, MacCumber MW, Sheffield VC, Traboulsi E, et al. Sci Rep. 2017;7:16174. doi:https://doi.org/10.1038/s41598-017-16279-4. Cheng J1, Qi X, Zhao J, et al. AN analyzed and interpreted the patients ophthalmologic and genetic data. Phenotype-genotype analysis of patients with corneal dystrophies originating from Polish population. doi:https://doi.org/10.1136/bjo.2007.125252. [QxMD MEDLINE Link]. In patients suspected of corneal dystrophy, genetic testing plays an important role in establishing the final diagnosis. Indian J Pediatr. PubMed Central EWCZ, KUD and EW reviewed and edited the manuscript. [QxMD MEDLINE Link]. Joanne W HoUniversity of California, San Diego, School of MedicineDisclosure: Nothing to disclose. The results of confocal microscopy are presented in Fig. American Society of Cataract and Refractive Surgery, Association for Research in Vision and Ophthalmology, Contact Lens Association of Ophthalmologists, International Society of Refractive Surgery, Pan-American Association of Ophthalmology. Vision can be restored by corneal grafting but opacities may recur in the graft after many years. 2014;28:12015. Macular corneal dystrophy is one of many different types of corneal dystrophies. Graefes Arch Clin Exp Ophthalmol. Anterior and posterior elevation maps showed a typical pattern in which the apex demonstrated warm colors above the best fit sphere (BFS) (RE: 7m, 5m; LE: 9m, 4m, respectively) with a slightly elevated isthmus that joined the central cornea from the temporal periphery. An autosomal recessive mode of inheritance has been shown in most cases, but some cases are of unknown etiology. Automated lamellar therapeutic keratoplasty with fibrin adhesive in the treatment of anterior corneal opacities. The location of the thinnest corneal point was the inferotemporal region in both eyes. The known homozygous, pathogenic variant c.1A>T (p.M1?) The hypertonic salt medicine helps to secure the bond between the outer layer cells of the cornea (epithelium) and the underlying basement membrane layers to hopefully prevent recurrence of the recurrent corneal erosion. 2005 Dec. 140(6):976-983. Article Eye Bank Association of America. 2019;67:1189. 3). Rare Diseases Resources for Refugees/Displaced Persons, section General Data Protection Regulation and data privacy (GDPR) and Confidentiality), Orphan designation(s) and orphan drug(s) (1). The severity of the corneal changes was comparable between eyes (Fig. Part of doi:https://doi.org/10.1007/s12098-017-2453-7. doi:https://doi.org/10.1371/journal.pone.0161075. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality). The diagnosis of MCD was confirmed by CHST6 gene sequencing. The patient could also potentially be the first affected member of the family in case the corneal dystrophy is autosomal dominant. The test result was confirmed using the Sanger reference method, described in detail in our previous publication . Javadi MA, RafeeI AB, Kamalian N, Karimian F, Jafarinasab MR, Yazdani S. Concomitant keratoconus and macular corneal dystrophy. The study was approved by the Ethics Committee of the Medical University of Silesia, Katowice, Poland (KNE/0022/KB1/43/I/14; 01.07.2014). PubMed PubMedGoogle Scholar. Corneal dystrophies are a group of rare, inherited disorders that are usually bilateral, symmetric, slowly progressive, and not related to environmental or systemic factors. Akama TO, Nishida K, Nakayama J, Watanabe H, Ozaki K, Nakamura T, et al. For patients with a suspicion of corneal dystrophy, the diagnostic flow includes a detailed familial history, the onset and characterization of signs and symptoms as revealed on the slit lamp exam, and corneal morphology and topography analysis using an available imaging system, such as optical coherence tomography, Scheimflug imaging, Orbscan or confocal microscopy. MCD is characterized by a low prevalence. 2020;29:16. Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. He had no significant medical or drug history, as well as no previous ocular disease in either eye, except for the reported conjunctivitis. Macular corneal dystrophy is the least common of all the corneal stromal dystrophies. Eye Banking Statistical Report. The above observation leads us to conclude that generalized corneal thinning precedes the progressive loss of corneal transparency. Granular, hyperreflective appearance of the corneal stroma (arrows) with multiple, differently oriented dark striae (*). Slit lamp examination results were not specific. Verma IC, Paliwal P, Singh K. Genetic Testing in Pediatric Ophthalmology. Corneal transplantation may therefore be needed. 2014;121:116473. PubMed Clinical examination of our patient also showed regular corneal astigmatism and diffuse corneal thinning, which are characteristic features of MCD, confirmed by previous histopathological, Scheimpflug imaging, ultrasound biomicroscopy and OCT studies [5, 20, 27,28,29,30]. Despite the lack of visible stromal involvement on slit lamp examination, the cornea presented changes involving the deep stromal layers, confirming the high utility of confocal microscopy in the differential diagnosis of corneal dystrophies. Representative confocal microscopy images at different scanning depths. Am J Ophthalmol. The corneal shape was characterized as prolate, both for the anterior and posterior surfaces (the anterior and posterior eccentricity of the corneal curve (Ecc) within 9.0 mm was 0.54 and 0.5 in the RE and 0.51 and 0.4 in the LE, respectively). Corneal dystrophies. Orphanet J Rare Dis. DISCLAIMER: The information on this website is for educational purposes only. Characterization of In Vivo Biomechanical Properties in Macular Corneal Dystrophy. doi:https://doi.org/10.1016/j.preteyeres.2018.01.004. [QxMD MEDLINE Link]. [Full Text]. Anterior segment optical coherence tomography, Clustered regularly interspaced short palindromic DNA repeat-associated genes, Corneal N-acetylglucosamine-6-sulfotransferase, Clustered regularly interspaced short palindromic DNA repeat, International Committee for Classification of Corneal Dystrophies, Multiple subepithelial corneal infiltrates, Tumor Associated Calcium Signal Transducer 2, Thygeson's superficial punctate keratitis, UbiA Prenyltransferase Domain Containing 1. Age has been reported to be strongly correlated with visual function, refraction, astigmatism and HOAs . PubMed Central Progress in Retinal Eye Research. HOAs of the total cornea and anterior and posterior surfaces were reported to be larger in subjects with stromal corneal dystrophies than in normal control subjects [32, 33]. The broad introduction of noninvasive corneal imaging techniques, including confocal microscopy and anterior segment optical coherence tomography (AS OCT), has revolutionized the diagnosis process and has had a great impact on understanding the pathophysiology of corneal dystrophies. doi:https://doi.org/10.1136/bjophthalmol-2014-305098. 2022 BioMed Central Ltd unless otherwise stated. This corneal dystrophy results in the earliest and usually the most severe vision loss of all corneal dystrophies. More than 125 mutations in this gene have been identified to date. A 8-year retrospective clinical analysis of 272 patients of epidemic Keratoconjunctivitis in Beijing, China. If visual acuity worsens and the opacities are deep, lamellar or full-thickness corneal transplantation can be performed. [QxMD MEDLINE Link]. 2016;23:10812. Considering the challenges in corneal dystrophy differential diagnosis, especially in pediatric populations, we would like to report a pediatric case of macular corneal dystrophy in which the final diagnosis was established based on detailed corneal imaging data confirmed by genetic testing. Linkage of a gene for macular corneal dystrophy to chromosome 16. The IC3D classification of the corneal dystrophies. 1986 Dec. 7(3):139-43. Courtney DG, Moore JE, Atkinson SD, Maurizi E, Allen EHA, Pedrioli DML, et al. Wirtitsch MG, Ergun E, Hermann B. Ultrahigh resolution optical coherence tomography in macular dystrophy. Moreover, the early signs of stromal dystrophies include epithelial and subepithelial corneal abnormalities, subsequently followed by stromal involvement; therefore, stromal dystrophies could not be ruled out only because slit lamp examination did not reveal stromal involvement and due to the young age of the patient. Alterations of the first codon have also been reported in Polish, Czech, German and Turkish populations [20, 41,42,43]. As the disease progresses, OCT scans show hyperreflective stromal corneal deposits with associated thinning of the epithelium over the deposits and characteristic pre-Descemetic peripheral deposits. CAS The analysis of the Fourier indices for our patient revealed abnormalities regarding two parameters: regular astigmatism on the anterior and posterior surfaces and asymmetry on the anterior surface. Article Br J Ophthalmol. Macular corneal dystrophy: A review. PubMed The anterior and posterior Ectasia Screening Index (ESI), which is a parameter used in the detection of corneas with ectasia patterns implemented in the SS OCT software, was 0% in both eyes of our patient. Br J Ophthalmol. The clinical examination should be complemented with corneal imaging techniques, such as confocal microscopy and optical coherence tomography. On examination, he reported no ocular complaints. doi:https://doi.org/10.1167/iovs.11-7771. 2018;96:23242. Heterogeneity in macular corneal dystrophy. Comparison of penetrating keratoplasty and deep lamellar keratoplasty for macular corneal dystrophy and risk factors of recurrence. Vance JM, Jonasson F, Lennon F, Sarrica J, Damji KF, Stauffer J, Pericak-Vance MAKG. To establish the final diagnosis, next-generation sequencing was incorporated. 2. Google Scholar. An 8-year-old male patient presented with asymptomatic, persistent, superficial, bilateral, diffuse, anterior corneal opacities. [QxMD MEDLINE Link]. William Lloyd Clark, MDPalmetto Retina Arch Ophthalmol. TSPK is a bilateral corneal disease of unknown origin in which factors such as viral infection or the immune reaction to viral infection and allergic reactions have been proposed to play a pathogenic role. Additionally, the influence of environmental factors and tear film disturbances could interfere with the OCT Fourier indices results. ECHT was responsible for performing optical coherence tomography exams and analysis of the results. The corneal stroma is thinner than normal. Feizi S, Karjou Z, Abbasi H, Javadi MA, Azari AA. The main pathogenetic factor of MCD is the progressive intra- and extracellular accumulation of glycosaminoglycans in stromal keratocytes, Descemet membranes and endothelial cells, leading to the loss of transparency in the corneas of affected patients [1,2,3, 13]. A high-definition corneal scan of our patient revealed very discrete, diffuse hyperreflective opacities with no clearly distinguishable borders and various shapes located in the subepithelial regions. This research was supported by Polish National Science Centre grant SONATA-8, contract number 2014/15/D/NZ5/03404. 2009;15:145662. Therefore, the influence of MCD on Fourier index results should be studied in a larger sample size, and one case report cannot be representative of the population. Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation. Investig Ophthalmol Vis Sci. Article NGS analyses with a mean read coverage of at least 40 were considered successful. Aggarwal S, Peck T, Golen J, Karcioglu ZA. Cookies policy. PubMed Keratometric and posterior topography maps confirmed the presence of with-the-rule astigmatism (RE=5,3 D; LE=4,7 D). Since the condition affects the entire corneal stroma, Descemet membrane and corneal endothelium, lamellar keratoplasty does not excise all damaged tissue. Am J Ophthalmol. Patients with predominantly deep stromal lesions in the peripheral cornea or isolated Descemet membrane deposits have been reported, and the diversity of presentations was confirmed in an optical coherence tomography study [4,5,6]. The patient was referred to the corneal outpatient clinic for further control visits. The ocular refraction after tropicamide cycloplegia (1% tropicamide eye drops administered 3 times every 15min) was RE, +7.0 Dsph 4.75 Dcyl axis 170; LE, +7.0 Dsph 4.0 Dcyl axis 175. BMC Ophthalmology Ophthalmologe. There was no significant difference in corneal status; therefore, the patient was referred to our clinic. In our case, the upstream region of the CHST6 gene was not covered by the gene sequencing, which could be regarded as a study limitation. On confocal microscopy, MSIs are visible as distinct round hyperreflective plaques, accompanied by increased anterior stromal hyperreflectivity and hyperreflective foci and inflammatory cells within the basal epithelium [23, 24]. Penetrating Keratoplasty Effective for Corneal Complications of Shingles, FDA Drug Approvals and Changes: August Edition, Advances in Macular Degeneration From AAO 2021. Christie KA, Courtney DG, Dedionisio LA, Shern CC, De Majumdar S, Mairs LC, et al. Michael Taravella, MDDirector of Cornea and Refractive Surgery, Rocky Mountain Lions Eye Institute; Professor, Department of Ophthalmology, University of Colorado School of Medicine The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. On the other hand, such subtle changes on the anterior surface of the cornea are not specific, and the result may be influenced by several factors, such as disturbances of the tear film, patient cooperation during the examination or internal/indoor environmental factors [35, 36]. Detailed corneal and genetic characteristics of a pediatric patient with macular corneal dystrophy - case report. To conclude, the initial signs and symptoms of different epithelial and stromal corneal dystrophies are not specific; therefore, it is very important to establish early characteristic corneal features that could guide the diagnostic process. TheraTears or Soothe XP)during the day and sodium chloride 5% ointment (eg, Muro 128) at bedtime. Even after a corneal transplant the corneal deposits can come back after time. Macular Corneal Dystrophy is Uncommon but Can Cause Severe Vision Problems, Austin Eye Doctor With High Ethical Standards, Top 10 Reasons to Choose Master Eye Associates, Prescriptions for Progressive (no-line) Multifocals, Myopia (Nearsighted), Hyperopia (Farsighted), Astigmatism, Vitreous Floaters / Detachment | Light Flashes, Giant Papillary Conjunctivitis GPC Treatment, Glaucoma Eye Surgery - Argon Laser Trabeculoplasty, Keratoconus - Corneal Eye Disease Treatment. Tuncay FY, Kurekci GK, Ergun SG, Pasaoglu OT, Akata RF, Dincer PR. [QxMD MEDLINE Link]. The axial length was 20.94 mm for the right eye and 21.12 mm for the left eye as measured by an IOL Master (Carl Zeiss Meditec, Inc., Dublin, California, USA). Chuang J, Shih KC, Chan TC, Wan KH, Jhanji V, Tong L. Preoperative optimization of ocular surface disease before cataract surgery. The keratocytes and the intercellular space had a granular, hyperreflective appearance throughout the whole stroma (Fig. Weiss JS1, Mller HU, Aldave AJ et al. 2013 Jan. 120(1):34-9. 2014;98:151421. Liu NP, Dew-Knight S, Rayner M, Jonasson F, Akama TO, Fukuda MN, et al. The conjunctivitis was treated with ofloxacin eye drops (3mg/ml) four times daily and resolved after one week. Nowiska, A., Chlasta-Twardzik, E., Dembski, M. et al. The main pathological features of advanced MCD described in previous studies include general increased reflectivity throughout the corneal stroma, irregularity of the anterior stromal border from the epithelium side, diffuse areas of hyperreflectivity in Bowmans layer caused by corneal deposits and a noticeable layer of increased reflectivity in the posterior, peripheral corneal part [5, 20,21,22]. Provided by the Springer Nature SharedIt content-sharing initiative. Google Scholar. In contrast to those at advanced stages, the epithelium layers of our patient were of normal morphology, while in advanced forms, numerous hyperreflective basal epithelial cells among cells of normal morphology were reported [19, 20]. 2015 Feb. 34(2):171-6. Yagi-Yaguchi Y. et al. A Heidelberg Retina Tomograph 3 Rostock Cornea Module (Heidelberg Engineering GmbH, Dossenheim, Germany) was used for the in vivo assessment of the detailed corneal morphology after topical instillation of 0.5% proparacaine hydrochloride (Alcaine, Alcon Laboratories, Fort Worth, TX, USA) eye drops. 2009 Dec 27. This was not consistent with our patients results, since the corneal changes were diffuse rather than centralized. The case report is part of a study approved by the Ethics Committee of the Medical University of Silesia, Katowice, Poland (KNE/0022/KB1/43/I/14; 01.07.2014). [QxMD MEDLINE Link]. 2017;43:1596607. The next-generation sequencing (NGS) technique was performed with the SeqCap EZ Hyper Cap protocol and a NimbleGen SeqCap EZ probe kit (Roche Sequencing Solutions, Inc; CA; USA) using a NextSeq sequencer by Illumina (Illumina, San Diego, CA, USA). The known, previously described homozygous pathogenic variant, c.1A>T, with alteration of the start codon (p.M1?) Macular corneal dystrophy is not an inflammatory condition. Cornea. High definition (HD) morphology scans of both eyes revealed very discrete, diffuse hyperreflective opacities with no clearly distinguishable borders and various shapes. Patients with epithelial defects from recurrent corneal erosions are treated with topical antibiotics to prevent corneal infection. Simon K Law, MD, PharmDClinical Professor of Health Sciences, Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine Lack of keratan sulfate in serum and cornea. Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. In contrast, autosomal dominant corneal dystrophies, such as epithelialstromal transforming growth factor beta-induced (TGFBI) corneal dystrophies, usually affect many family members, which facilitates the diagnosis of a child from a family with a known diagnosis. No significant abnormalities in the corneal epithelium were visible. [QxMD MEDLINE Link]. The keratometric map confirms the presence of with-the-rule astigmatism. volume21, Articlenumber:285 (2021) (a) Confocal image at a depth of 10m. Chair and Clinical Department of Ophthalmology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. [QxMD MEDLINE Link]. The keratocytes and the intercellular space had a granular, hyperreflective appearance throughout the whole stroma. You are being redirected to The main limitations are the difficulties in performing high-quality slit lamp and confocal microscopy scans in an 8-year-old patient.