Evrydiki A. Bouzas

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 Cushings 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.

Lens opacities in neurofibromatosis 2: further significant correlations.

This prospective study of 96 individuals from 29 families with neurofibromatosis 2, 49 of whom were affected, confirms in an extended series the previously reported association between posterior subcapsular/capsular cataract and neurofibromatosis 2. Posterior subcapsular/capsular cataracts were found in 36 (80%) of the 45 affected individuals (four individuals were excluded from statistical analyses). In addition, the association of peripheral cortical lens opacities with neurofibromatosis 2 was found to be statistically significant. Seventeen of the patients with neurofibromatosis 2 (37.8%) had peripheral cortical cataracts in comparison with none of the unaffected family members (p < 0.0001). In three patients peripheral cortical opacities were present despite the absence of posterior subcapsular/capsular cataracts. These findings support the inclusion of cortical cataracts of early onset, in addition to posterior subcapsular/capsular cataracts, in the diagnostic criteria of neurofibromatosis 2.

Ophthalmologic Examinadon in the Diagnosis of Proteus Syndrome

PURPOSE To describe the clinical features of Proteus syndrome, a rare recently recognized hamartoneoplastic malformation, with emphasis on the ocular findings. METHODS Complete physical and ocular examination of two new patients with Proteus syndrome. RESULTS The two reported cases illustrate the wide clinical polymorphism of Proteus syndrome and the overlap of its clinical manifestations with those of other overgrowth syndromes. Both patients had periorbital exostoses and epibulbar tumors. The ocular findings are compared with those in the literature. CONCLUSION Considering the paucity of information in the ophthalmic literature, this article explores the role of the ophthalmologist in diagnosing this rare entity.

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

PurposeTo evaluate whether exposure to glucocorticoids represents a risk factor for the development of central serous chorioretinopathy (CSCR).MethodsProspective, 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.ResultsUse 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).ConclusionIn this prospective, case–control study, we found that glucocorticoid use represents a risk factor for the development of CSCR.

Familial occurrence of combined pigment epithelial and retinal hamartomas associated with neurofibromatosis 2.

Combined pigment epithelial and retinal hamartomas are rare lesions that usually occur sporadically in individuals without systemic abnormalities. However, they have been reported in isolated patients with neurofibromatosis 1 and 2. No familial cases have been reported. The cases of four patients with unilateral macular lesions from three consecutive generations of a single family are presented: two of the patients also have neurofibromatosis 2. The ophthalmoscopic appearance of their ocular lesions resembles combined pigment epithelial and retinal hamartomas. The morphologic differences in the lesions of these 4 patients, whose ages are 8 months, 5 years, 29 years, and 65 years, may serve to demonstrate the evolution of this type of hamartoma.

Evoked Potential Analysis of Visual Pathways in Human Albinism

PURPOSE To explore the abnormal crossing of the retinogeniculate pathways in human albinos with visual-evoked potentials (VEPs). METHODS The authors studied the symmetry of the topographic distribution of pattern onset/offset VEPs over the posterior part of the scalp elicited by monocular stimulation of each eye in 31 consecutive patients with different types of albinism. RESULTS Twenty-one patients had asymmetric responses, with the major amplitude recorded over the lateral part of the scalp contralaterally to the stimulated eye in 14 patients and ipsilaterally in 7 patients. In two patients, the responses had a symmetric topographic distribution. In eight patients, the amplitude was so low that studying the symmetry was not possible. CONCLUSIONS These findings demonstrate a non-uniform pattern of asymmetry as a result of the miswiring of the visual pathways in human albinism. Moreover, the low amplitude of the VEP recorded in a consecutive series of patients shows the difficulty of the study of this phenomenon in a clinical setting.

Hypothyroidism and glaucoma. a study of 100 hypothyroid patients

PURPOSE To determine whether glaucoma is associated with hypothyroidism, as has previously been suggested. METHODS This is a cross-sectional study and a noncomparative interventional case series. One hundred consecutive patients with newly diagnosed hypothyroidism were referred for complete ophthalmologic examination, including automated perimetry and examination of the optic disks, to identify the presence of glaucoma. After correction of the hypothyroidism, reexamination was performed. RESULTS No patient had glaucoma and no correlation was found between intraocular pressure and either thyroid stimulating hormone or free tri-iodothyronine. No statistically significant difference was found between intraocular pressure levels before and after treatment of the hypothyroidism. CONCLUSION This study does not demonstrate an association between hypothyroidism and glaucoma.

Central serous chorioretinopathy complicating solar retinopathy treated with glucocorticoids

Abstract · Background: Solar retinopathy and central serous chorioretinopathy are two well-defined clinical entities which affect the macular area. Their association has never been described. The relation of central serous chorioretinopathy with the exposure to glucocorticoids has been recently suggested. · Case report: Central serous chorioretinopathy developed in a patient who received corticosteroid therapy for solar retinopathy. · Conclusion: This case report provides additional evidence that central serous chorioretinopathy may develop under the effect of glucocorticoids. Retinal damage resulting from a previous insult, such as solar retinopathy, may act as the permissive factor.

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.

Reduced brain stem excitability in mitochondrial myopathy : Evidence for early detection with blink reflex habituation studies

Blink reflex (BR) was studied in 17 patients with histochemically and genetically confirmed mitochondrial myopathy (MM). Fourteen patients had chronic progressive external ophthalmoplegia (CPEO) associated with a mild to moderate craniosomatic myopathy without any symptoms or signs of central nervous system (CNS) involvement, 2 myoclonic epilepsy with ragged red fibers syndrome, and 1 Kearns‐Sayre syndrome. The mean latencies of the early (R1) and late (R2) responses were prolonged (P < 0.01 and P < 0.001, respectively), and the corresponding amplitudes decreased (P < 0.001). Increased habituation of the reflex was clearly observed in 10 out of 14 patients tested (71.4%), 9 of whom presented CPEO. These findings suggest that the brain stem reticular network is in a state of basal inhibition which is presumably due to a subclinical impairment of the cerebral cellular metabolism. Multimodal evoked potentials revealed abnormalities suggestive of CNS involvement in 7 out of 17 patients (41.2%), 4 of whom had CPEO. These observations document the validity of BR in detecting clinically silent brain stem impairment in patients with apparently pure MM and provide important clues for a further understanding of the underlying pathophysiology.