Corneal macular dystrophy. Case Presentation.
Among the stromal corneal dystrophies corneal macular dystrophy is one of the most frequent. It is an autosomal recessive disorder linked to chromosome 16, in which a mutation occurs in the CHST6 gene, causing an alteration in keratan sulfate metabolism. This alteration produces extracellular deposi...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Ukrainian Society of Ophthalmologists
2022-12-01
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| Series: | Journal of Ophthalmology |
| Subjects: | |
| Online Access: | https://www.ozhurnal.com/en/archive/2022/6/11-fulltext |
| _version_ | 1797398815830966272 |
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| author | Leopoldo Garduño-Vieyra Bruno Flores Escobar Isabel De la Fuente Batta |
| author_facet | Leopoldo Garduño-Vieyra Bruno Flores Escobar Isabel De la Fuente Batta |
| author_sort | Leopoldo Garduño-Vieyra |
| collection | DOAJ |
| description | Among the stromal corneal dystrophies corneal macular dystrophy is one of the most frequent. It is an autosomal recessive disorder linked to chromosome 16, in which a mutation occurs in the CHST6 gene, causing an alteration in keratan sulfate metabolism. This alteration produces extracellular deposits of glycosaminoglycans between the stromal lamellae of the cornea, as well as in the cytoplasm of the endothelial cells. Clinically, the presence of centrally predominant white-greyish focal stromal corneal opacities is observed in early stages. Symptoms begin between the second and third decade of life and consist of progressive decrease in visual acuity and photophobia. In this work, we present the clinical case of a 56-year-old male patient who came to the clinic due to progressive decrease in visual acuity and photophobia. On physical examination, multiple intrastromal macules, whitish in color, were found by biomicroscopy in both eyes that were accentuated in greater quantity in the central 5 mm of the cornea. According to the findings obtained in the examination, the diagnosis of corneal macular dystrophy is established. |
| first_indexed | 2024-03-09T01:30:58Z |
| format | Article |
| id | doaj.art-1b389d6bd3ec4102b42ad07ea2efa4bd |
| institution | Directory Open Access Journal |
| issn | 2412-8740 |
| language | English |
| last_indexed | 2024-03-09T01:30:58Z |
| publishDate | 2022-12-01 |
| publisher | Ukrainian Society of Ophthalmologists |
| record_format | Article |
| series | Journal of Ophthalmology |
| spelling | doaj.art-1b389d6bd3ec4102b42ad07ea2efa4bd2023-12-09T15:32:31ZengUkrainian Society of OphthalmologistsJournal of Ophthalmology2412-87402022-12-015961596110.31288/oftalmolzh202265961Corneal macular dystrophy. Case Presentation.Leopoldo Garduño-Vieyra0Bruno Flores Escobar1Isabel De la Fuente Batta2Clínica Oftalmología Garduño Clínica Oftalmología Garduño Clínica Oftalmología Garduño Among the stromal corneal dystrophies corneal macular dystrophy is one of the most frequent. It is an autosomal recessive disorder linked to chromosome 16, in which a mutation occurs in the CHST6 gene, causing an alteration in keratan sulfate metabolism. This alteration produces extracellular deposits of glycosaminoglycans between the stromal lamellae of the cornea, as well as in the cytoplasm of the endothelial cells. Clinically, the presence of centrally predominant white-greyish focal stromal corneal opacities is observed in early stages. Symptoms begin between the second and third decade of life and consist of progressive decrease in visual acuity and photophobia. In this work, we present the clinical case of a 56-year-old male patient who came to the clinic due to progressive decrease in visual acuity and photophobia. On physical examination, multiple intrastromal macules, whitish in color, were found by biomicroscopy in both eyes that were accentuated in greater quantity in the central 5 mm of the cornea. According to the findings obtained in the examination, the diagnosis of corneal macular dystrophy is established.https://www.ozhurnal.com/en/archive/2022/6/11-fulltextсorneal macular dystrophykeratoplastychst6keratin sulfate |
| spellingShingle | Leopoldo Garduño-Vieyra Bruno Flores Escobar Isabel De la Fuente Batta Corneal macular dystrophy. Case Presentation. Journal of Ophthalmology сorneal macular dystrophy keratoplasty chst6 keratin sulfate |
| title | Corneal macular dystrophy. Case Presentation. |
| title_full | Corneal macular dystrophy. Case Presentation. |
| title_fullStr | Corneal macular dystrophy. Case Presentation. |
| title_full_unstemmed | Corneal macular dystrophy. Case Presentation. |
| title_short | Corneal macular dystrophy. Case Presentation. |
| title_sort | corneal macular dystrophy case presentation |
| topic | сorneal macular dystrophy keratoplasty chst6 keratin sulfate |
| url | https://www.ozhurnal.com/en/archive/2022/6/11-fulltext |
| work_keys_str_mv | AT leopoldogardunovieyra cornealmaculardystrophycasepresentation AT brunofloresescobar cornealmaculardystrophycasepresentation AT isabeldelafuentebatta cornealmaculardystrophycasepresentation |