Офтальмол. журн. — 2022. — № 6. — С. 59-61.
Corneal macular dystrophy. Case Presentation.
Leopoldo Garduño-Vieyra, Ophthalmologist, Master in Administration; Bruno Flores Escobar, General Practitioner; Isabel De la Fuente Batta, General Practitioner
Clínica Oftalmología Garduño
Irapuato, Guanajuato (México)
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.
Key words: сorneal macular dystrophy, keratoplasty, CHST6, keratin sulfate
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Information about authors and disclosure of information
Corresponding author: Bruno Flores Escobar, firstname.lastname@example.org.
Authors’ contributions: Leopoldo Garduño-Vieyra – original idea and research; Bruno Flores Escobar – edition, head of capture; Isabel De la Fuente Batta – editind and writting.
Funding information: This research has not received specific aid from public sector agencies, commercial sector or non-profit entities.
Conflict of interest. The authors declare that they have no conflict of interest with this article.