Two years of growth hormone treatment in the first growth hormone deficient patient with cerebrofaciothoracic dysplasia.

We recently reported two siblings, a sister and a brother, with intrauterine growth retardation, microcephaly, short stature, mental retardation, facial dysmorphism and multiple costovertebral malformations. These features fit most with the diagnosis of cerebrofaciothoracic dysplasia, or Pascual-Castroviejo syndrome. The second sibling, our index patient, presented also with cleft palate and growth hormone (GH) deficiency, suggesting that endocrinological assessment should be performed in short patients with this syndrome, especially if midline defects are present. We present the results of 2 years GH treatment of this first GH deficient patient with cerebrofaciothoracic syndrome and compare the results to those observed in other genetic syndromes with GH deficiency.

Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IRE.

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a well-characterized autosomal dominant disease caused by mutations in the iron responsive element (IRE) of ferritin L-chain (FTL) mRNA. Mutations in the IRE result in reduced binding of the trans-acting iron regulatory proteins (IRPs) and hence in upregulation of ferritin L-chain synthesis. The disease is characterized by increased L-ferritin in serum and tissues and early onset of bilateral cataracts. Iron metabolism is normal, and there is no tissue iron overload. At least 25 nucleotide substitutions and deletions in the L-ferritin IRE have been described in families with HHCS, originating from diverse European, Australian and North American populations. We studied the molecular pathogenesis of HHCS in three unrelated kinderships of western Greek origin, with 19 affected members. We identified a relatively rare C39G mutation located in the hexanucleotide loop of L-ferritin IRE. Computational analysis of mRNA folding of mutant FTL IRE predicted that the C39 > G mutation leads to a rearrangement of base pairing in this critical region, which is likely to modify the IRP binding affinity. All subjects with HHCS were heterozygotes for the same C39G mutation. Clinical and laboratory phenotypes were described. Moreover, there was evidence of an association between this FTL IRE stem-loop mutation and very high ferritin levels. Our findings broaden the list of populations where HHCS has been described.

Fundus autofluorescence imaging in serous and drusenoid pigment epithelial detachments associated with age-related macular degeneration.

PURPOSE: To investigate the fundus autofluorescence (FAF) imaging findings in patients with serous and drusenoid pigment epithelial detachment (PED) associated with age-related macular degeneration (AMD). DESIGN: Observational case series. METHODS: Fourteen eyes of 13 consecutive patients with serous (n = 10) and drusenoid (n = 4) PED were prospectively included. RESULTS: In all cases of serous vascularized (n = 7) and avascular (n = 3) PED, the FAF signal was increased, corresponding to the area of detachment. In drusenoid PED, the FAF was either increased or decreased. The decreased signal was recorded in cases associated with pigmented clumping. CONCLUSIONS: These findings are useful for a more detailed phenotyping of patients with PED associated with AMD. FAF may derive not only from lipofuscin, but also from other sources, such as sub-retinal pigment epithelium fluid.

Ophthalmologic findings in cerebrofaciothoracic dysplasia.

We describe the ophthalmologic findings in two cases of cerebrofaciothoracic dysplasia, a rare syndrome characterized by facial dysmorphism, multiple malformations of the vertebrae and ribs, and significant mental retardation. Both affected individuals are members of the same family and have epicanthal folds and hypertelorism. In addition, one patient has bilateral bull's eye maculopathy, which may represent an additional severe manifestation of cerebrofaciothoracic dysplasia syndrome.

Glucocorticoid use represents a risk factor for central serous chorioretinopathy: a prospective, case-control study.

PURPOSE: To evaluate whether exposure to glucocorticoids represents a risk factor for the development of central serous chorioretinopathy (CSCR). METHODS: Prospective, case-control study. Thirty-eight consecutive patients with acute CSCR were asked to answer a specific questionnaire regarding the use of glucocorticoids, in any form, during the last month before the onset of the symptoms. An age- and sex-matched control group was also recruited. It consisted of patients attending the outpatient department for a condition other than CSCR, who were asked to answer the same questionnaire. RESULTS: Use of glucocorticoids was recorded in 11 of 38 patients (28.9%) with CSCR; 8 of them were men and 3 women. In the control group, use of glucocorticoids was recorded in 2 of 38 patients (5.2%), 1 man and 1 woman. The difference between the two groups is statistically significant (odds ratio=7.33, 95% CI=1.49-35.85, P=0.006). CONCLUSION: In this prospective, case-control study, we found that glucocorticoid use represents a risk factor for the development of CSCR.

Retinal vascular abnormalities in neurofibromatosis type 1.

Microvascular retinal abnormalities, presenting in a corkscrew configuration, have been very recently described in patients with neurofibromatosis type 1 (NF-1). We report one more patient with NF-1 who had distinctive corkscrew retinal vessels superior and inferior to the fovea. This patient further supports the existence of a true association between this recently described retinal finding and NF-1.

Central serous chorioretinopathy and glucocorticoids.

Central serous chorioretinopathy is a relatively common retinal disease characterized by the accumulation of subretinal fluid at the posterior pole of the fundus, creating a circumscribed area of serous retinal detachment. It typically affects young and middle-aged men with no previous medical and family history, and no systemic symptoms or signs. However, it has been noted that central serous chorioretinopathy is associated with different conditions, characterized by exposure to increased levels of endogenous or exogenous glucocorticoids. In fact, central serous chorioretinopathy has been described in patients with endogenous Cushing's syndrome. It is also prevalent in patients with type-A behavior, and following stressful events, and pregnancy probably represents a risk factor for central serous chorioretinopathy; these conditions are characterized by endogenous hypercortisolism. In addition, many cases of central serous chorioretinopathy have been described during or following treatment with glucocorticoids, administrated by any route, for various systemic or ocular conditions. Central serous chorioretinopathy, when related to the exposure to exogenous glucocorticoids, has a less prominent male predilection, presents more often with a chronic or atypical form, and is frequently bilateral. Furthermore, treatment of central serous chorioretinopathy with glucocorticoids was found to exacerbate the clinical picture. Based on these observations it could be suggested that glucocorticoids may be involved in the development of central serous chorioretinopathy, even though the exact pathogenic mechanism remains unclear. Glucocorticoids should not be used in the treatment of central serous chorioretinopathy and central serous chorioretinopathy should be added to the list of ocular complications of glucocorticoids.