Bilateral corneal clouding of lecithin cholesterol acyltransferase deficiency – A rare case report
| Autor: | G Barathi, S Uma Maheshwari, M Muthayya, P Thiyagarajan |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Lecithin cholesterol acyltransferase deficiency Intraocular pressure lecithin cholesterol acyltransferase deficiency Proteinuria Visual acuity lipoprotein disorder genetic structures medicine.diagnostic_test business.industry Corneal dystrophy RE1-994 medicine.disease eye diseases Ophthalmology Membranous nephropathy corneal clouding medicine Lipoprotein disorder sense organs Renal biopsy medicine.symptom business |
| Zdroj: | TNOA Journal of Ophthalmic Science and Research, Vol 59, Iss 2, Pp 178-180 (2021) |
| ISSN: | 2589-4528 |
| DOI: | 10.4103/tjosr.tjosr_184_20 |
| Popis: | A 44-year-old female patient presented to our department with bilateral corneal opacity since childhood. History of similar complaints was elicited among her family members. Best-corrected visual acuity in both eyes was 6/9 with bilateral stromal corneal clouding extending from limbus to limbus, with no evidence of vascularization/deposits/scarring. Intraocular pressure and fundus examination were normal in both eyes. Further systemic evaluation showed increased triglycerides, low high-density lipoprotein, anemia, and proteinuria with elevated renal parameters. Renal biopsy showed secondary membranous nephropathy arising in a background of lecithin cholesterol acyltransferase (LCAT) deficiency. Severe visual impairment prompts keratoplasty in such patients. Bilateral stromal corneal clouding is important to detect potentially associated systemic diseases such as mucopolysaccharidosis/lipidosis, LCAT deficiency, fish-eye disease, and corneal dystrophy. The case is being reported to stress the importance of systemic evaluation and follow-up in a case of bilateral corneal clouding due to its varied systemic differentials. |
| Databáze: | OpenAIRE |
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