Ocular and Genetic Characteristics Observed in Two Cases of Fish-Eye Disease
| Autor: | Feyza Önder, Hande Küçük Kurtulgan, Melih Ustaoglu, Nilgun Solmaz, Burak Baser |
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| Přispěvatelé: | [Ustaoglu, Melih] Wills Eye Hosp & Res Inst, Glaucoma Res Ctr, 840 Walnut St,Suite 1140, Philadelphia, PA 19107 USA -- [Ustaoglu, Melih] Hlth Sci Univ, Sisli Hamidiye Etfal Training & Res Hosp, Dept Ophthalmol, Istanbul, Turkey -- [Solmaz, Nilgun -- Onder, Feyza] Hlth Sci Univ, Haseki Training & Res Hosp, Dept Ophthalmol, Istanbul, Turkey -- [Baser, Burak -- Kurtulgan, Hande Kucuk] Cumhuriyet Univ, Fac Med, Dept Med Genet, Sivas, Turkey |
| Rok vydání: | 2018 |
| Předmět: |
Male
medicine.medical_specialty genetic structures lecithin-cholesterol acyltransferase deficiency Disease Diagnosis Differential Phosphatidylcholine-Sterol O-Acyltransferase 03 medical and health sciences Exon 0302 clinical medicine Tangier disease Corneal Opacity Blurred vision Lecithin Cholesterol Acyltransferase Deficiency Ophthalmology Medicine Humans Fish-Eye Disease optical coherence tomography business.industry dyslipidemia Genetic disorder Middle Aged medicine.disease dry eye disease eye diseases Decreased Visual Acuity Mutation 030221 ophthalmology & optometry corneal clouding Female sense organs Differential diagnosis medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Cornea. 38(3) |
| ISSN: | 1536-4798 |
| Popis: | WOS: 000464539300021 PubMed ID: 30394912 Purpose: To present ocular findings and anterior segment-optical coherence tomography (AS-OCT) imaging findings of 2 cases of fish-eye disease (FED) involving 2 novel genetic variants of the lecithin-cholesterol acyltransferase (LCAT) gene. Methods: A case report. Results: A 46-year-old woman and 63-year-old man presented with blurred vision, burning sensation, and whitening of both eyes for 2 and 3 years, respectively. Ophthalmologic examination revealed slightly decreased visual acuity, yellowish-white diffuse corneal opacities causing corneal clouding, and dry eye disease bilaterally in both patients. AS-OCT imaging demonstrated diffuse hyperreflective corneal opacities predominantly located in the anterior stroma. On systemic examination, both patients had very low plasma high-density lipoprotein cholesterol levels. However, they did not have any systemic associations with familial LCAT deficiency or Tangier disease, which are differential diagnoses for corneal clouding and low plasma high-density lipoprotein cholesterol. Both patients were diagnosed with FED based on clinical findings. Furthermore, genetic analysis, in which novel variants of c.86A>G (p.Asn29Ser) in the first exon and c.1052A>G (p.Tyr351Cys) in the sixth exon on the LCAT gene were detected, confirmed the diagnosis. Conclusions: Although it is a rare genetic disorder, FED should be considered in the differential diagnosis of corneal clouding. Corneal lipid deposits, visible on AS-OCT are suggestive of FED, and genetic analysis can be used to confirm the clinical diagnosis. Finally, there may be a relationship between dry eye disease and LCAT enzyme deficiency disorders, which should be investigated in further studies. |
| Databáze: | OpenAIRE |
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