| Autor: |
Cristina Masini, Robert Rejdak, Cesare Forlini, C. Chiesi, Luca Campi, Matteo Forlini, Gian Maria Cavallini |
| Rok vydání: |
2013 |
| Předmět: |
|
| Zdroj: |
Journal of Genetic Syndromes & Gene Therapy. 4 |
| ISSN: |
2157-7412 |
| DOI: |
10.4172/2157-7412.1000165 |
| Popis: |
Background: Dismetabolic cataract is a loss of lens transparency due to an insult to the nuclear or lenticular fibers, caused by a metabolic disorder. The lens opacification may occur early or later in life, and may be isolated or associated to particular syndromes. We describe some of these metabolic conditions associated with cataract formation, and in particular we report our experience with a patient affected by lathosterolosis that presented bilateral cataracts. Methods: Our patient was a 7-years-old little girl diagnosed with lathosterolosis at age 2 years, through gas cromatography/mass spectrometry method for plasma sterol profile that revealed a peak corresponding to cholest- 7-en-3β-ol (lathosterol). Results: The lens samples obtained during surgical removal with B-MICS technique were sent to the Department of Pathology and routinely processed and stained with haematoxylin-eosin and PAS; then, they were examined under a light microscope. Histological examination revealed lens fragments with the presence of fibers disposed in a honeycomb way, samples characterized by the presence of homogeneous eosinophilic lens fibers, and other fragments characterized by bulgy elements referable to cortical fibers with degenerative characteristics. These findings were compatible with cortical dismetabolic cataract. Conclusion: We conclude that lathosterolosis is a complex malformative syndrome that can lead to dismetabolic cataract development. This unique case of cataract in such a patient, has been successfully managed with cataract extraction and IOL implant. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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