Journal of Genetic Syndromes & Gene Therapy
Open Access
ISSN: ISSN: 2157-7412
ISSN: ISSN: 2157-7412
Cavallini GM, Forlini M, Masini C, Campi L, Chiesi C, Rejdak R and Forlini C
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.