Cleft palate and keratoconus in a child affected by fetal alcohol syndrome: an accidental association?

This report describes the case of a 9-year-old girl affected by fetal alcohol syndrome who presented at birth with blepharophimosis and a cleft palate, which was submitted to surgery. She was referred to our hospital for a visual acuity reduction, where a diagnosis of keratoconus was made. This case highlights the rarity of the association between fetal alcohol syndrome and cleft palate and the previously unreported association involving fetal alcohol syndrome-keratoconus and cleft palate-keratoconus.

Polymicrobial keratomycosis in a three-year-old child.

PURPOSE: To describe a previously unreported case of polymicrobial mycotic keratitis caused by an association between Candida lusitaniae, C. parapsilosis, and Geotrichum candidum. METHODS: A three-year-old child with an antecedent trauma with vegetable matter and a prolonged use of corticosteroid eyedrops developed fungal keratitis. RESULTS: The isolates of the corneal scraping using Sabaraud dextrose agar grew C. lusitaniae, C. parapsilosis, and G. candidum. After topical 0.2% and systemic fluconazole treatment, the corneal lesion resolved with no recurrence. CONCLUSIONS: Corneal trauma with vegetables and the indiscriminate use of corticosteroids are important risk factors for mycotic keratitis. A combination of topical 0.2% and systemic fluconazole therapy was effective in the treatment of this mycotic association. This is the first report of fungal keratitis caused by C. lusitaniae and G. candidum.

Type 3 Gaucher's disease in a three-year-old child: saccadic eye movements analysis.

Gaucher's disease (GD) is an autosomal-recessive disorder that leads to the storage of sphingolipid material (glucocerebroside) in different peripheral tissues and sometimes in the central nervous system. Among its three existing forms, the most frequent non-neurological form (type 1: GD1) is treatable with appropriate amounts of exogenous enzyme-replacement therapy (ERT), whereas in the type 3 form (GD3), progression of the neurological involvement may be slowed down or halted by much higher doses of ERT than those used in GD1 because of the inability of ERT to cross the blood-brain barrier.

Congenital growth hormone deficiency and eye refraction: a longitudinal study.

The aim of this study was to study the influence of growth hormone deficiency (GHD) on emmetropization and to evaluate the effect of growth hormone replacement therapy on eye refraction. Twenty-eight children affected by congenital GHD and undergoing substitutive therapy (group 1), and 28 healthy subjects (group 2), were prospectively studied. All patients had a thorough eye examination, including cycloplegic refraction and axial length measurement (only GHD children). After 2 years, we found in both groups a reduction of the dioptric power of the eye. A t test for paired data showed statistically significant differences in both groups (p<0.001), but the change of refraction was higher in group 2 (p<0.01). Axial length showed a statistically significant increase, according to the myopic shift (p<0.001). The change of the refraction found in GHD children could be related to the somatic growth and partially induced by growth hormone therapy. The difference between the two groups could be explained with the late beginning of the therapy in GHD children. It is possible to form the hypothesis that a correct and well-timed substitutive therapy could permit a normal emmetropization process.

Refractive evaluation in children with growth defect.

PURPOSE: Growth hormone (GH) is considered essential for postnatal somatic growth, exerting its effects on growth by hepatic production of IGF-I. IGF and other growth factors interact with the developing ocular tissues by influencing the synthesis of the extracellular matrix of the sclera and by inducing angiogenesis. The association between optic nerve hypoplasia, reduced retinal vascularization and GH deficiency (GHD) is well known. The purpose of this study is to evaluate the possible influence of congenital GHD on the refraction and on the emmetropization process. METHODS: Eighty children with congenital GHD had a thorough ophthalmologic examination, including cycloplegic refraction and axial length measurement. As a control group we enrolled 483 healthy children. RESULTS: In accordance with other epidemiological studies, the control group showed a slightly myopic mean defect; on the contrary, in GHD group we found a hyperopic defect, related to a shorter axial length, with statistically significant differences. CONCLUSIONS: Our findings emphasise the possible role of growth hormone in ocular development, and its interaction with the physiological process of emmetropization.

Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report.

A 4-year-old Italian child with the association of a solitary median maxillary central incisor, growth hormone deficiency, Duane retraction syndrome and a duplicated thumb phalanx is described.

Visual function in menopause: the role of hormone replacement therapy.

OBJECTIVE: To assess the effects of hormone replacement therapy (HRT) on visual function after menopause. DESIGN: This study was conducted on 80 postmenopausal women aged 52 to 70 years. Women were randomly divided into two groups: 40 women were treated by oral HRT (equine conjugated estrogens 0.625 mg/day + dydrogesterone 5 mg/day in a continuous combined regimen), and 40 women were not treated with hormones (control group). Each woman underwent a contrast sensitivity test, a Schirmer test, and an evaluation of intraocular pressure before starting the study and 1 year after the beginning of the study. Statistical analysis was performed by Student's test and Fisher's exact test. RESULTS: Contrast sensitivity function was significantly improved in all spatial frequencies (1.5, 3, 6, and 12 cycles per degree) with the exception of 18 cycles per degree in the HRT group 1 year after the beginning of treatment, whereas the control group demonstrated significant impairment at the lowest spatial frequencies (1.5, 3, and 6 cycles per degree). Tear production was significantly improved in the HRT group 1 year after the beginning of treatment, and intraocular pressure was similar in the two groups before and after the beginning of the study. CONCLUSIONS: HRT improves visual function, promoting a better contrast sensitivity and a higher tear production, but does not modify intraocular pressure.