Pediatric presentation of enhanced S-cone syndrome associated with two heterozygous NR2E3 mutations.

We report the case of an otherwise healthy 10-year-old girl referred to our institution for gradually decreasing vision and nyctalopia. Based on clinical examination, she was diagnosed with inherited retinal dystrophy, presumably due to enhanced S-cone syndrome (ESCS). Subsequent genetic testing confirmed a rare combination of NR2E3 heterozygous mutations: c.119-2A>C and c.932G>A p.(Arg311Gln).

[Tendencies of cataract surgery in Lithuania]. / Kataraktos chirurgijos tendencijos Lietuvoje.

OBJECTIVE: To review the tendencies of cataract surgery in Lithuania. MATERIALS AND METHODS: More than ten years the data are collected from all medical institutions in Lithuania, where cataract surgery is performed. Each year from 1994 standardized questionnaires are sent to all centers of the cataract surgery and afterwards collected in the database. The questionnaires contain questions regarding the incidence of cataract surgery, operation methods, the rate of applied intraocular lenses, their models, etc. RESULTS: A total of 74,954 cataract operations were performed in Lithuania from 1994 till 2004. Phacoemulsification for the first was used in Lithuania in 1996. Since that time, 18,393 phacoemulsification operations have been performed. The first foldable intraocular lens was implanted in Lithuania in 1998. A total of 5,140 foldable intraocular lenses were implanted till 2005. It makes up 7.36% from total number of implanted intraocular lenses during the period under review. CONCLUSIONS: We have been observing a great quantitative and qualitative increase in the amount of cataract surgeries for last ten years. This is due to the newest cataract surgery methods (manual small incision cataract surgery, phacoemulsification), introduction of viscoelastic agents, new generation lenses (foldable: acrylic, silicone), and modern phacoemulsificators to clinical practice.