Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report.

BACKGROUND: We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD). CASE PRESENTATION: A 26-year-old white woman, born at term by natural delivery presented with a post-natal diagnosis of GSD Ia. Genetic testing by array-comparative genomic hybridization (CGH) for DGS was required because of her low levels of serum calcium. The patient has been followed from birth, attending the day-hospital every six months at the San Paolo Hospital, Milan, outpatient clinic for metabolic diseases and previously at another eye center. During the last day-hospital visit, a complete eye examination showed ONHD and cataract in both eyes. Next Generation Sequencing (NGS) was subsequently done to check for any association between the eye problems and metabolic aspects. CONCLUSIONS: This is the first description of ocular changes in a patient with GSD Ia and DGS. Mutations explaining GSD Ia and DGS were found but no specific causative mutation for cataract and ONHD. The metabolic etiology of her lens changes is known, whereas the pathogenesis of ONHD is not clear. Although the presence of cataract and ONHD could be a coincidence; the case reported could suggest that hypocalcemia due to DGS could be the common biochemical pathway.

Effect of timolol, latanoprost, and dorzolamide on circadian IOP in glaucoma or ocular hypertension.

PURPOSE: To compare the around-the-clock intraocular pressure (IOP) reduction induced by timolol 0.5%, latanoprost 0.005%, and dorzolamide in patients with primary open-angle glaucoma (POAG) or ocular hypertension (OHT). METHODS: In this crossover trial, 20 patients with POAG (n = 10) or OHT (n = 10) were treated with timolol, latanoprost, and dorzolamide for 1 month. The treatment sequence was randomized. All patients underwent measurements for four 24-hour tonometric curves: at baseline and after each 1-month period of treatment. The patients were admitted to the hospital, and IOP was measured by two well-trained evaluators masked to treatment assignment. Measurements were taken at 3, 6, and 9 AM and noon and at 3, 6, and 9 PM and midnight by handheld electronic tonometer (TonoPen XL; Bio-Rad, Glendale, CA) with the patient supine and sitting, and a Goldmann applanation tonometer (Haag-Streit, Bern, Switzerland) with the patient sitting at the slit lamp. Systemic blood pressure was recorded at the same times. The between-group differences were tested for significance by means of parametric analysis of variance. The circadian IOP curve of a small group of untreated healthy young subjects was also recorded using the same procedures. To compare the circadian IOP rhythms in the POAG-OHT and control groups, the acrophases for each subject were calculated. RESULTS: When Goldmann sitting values were considered, all the drugs significantly reduced IOP in comparison with baseline at all times, except for timolol at 3 AM. Latanoprost was more effective in lowering IOP than timolol at 3, 6, and 9 AM (P = 0.03), noon (P = 0.01), 9 PM, and midnight (P = 0.05) and was more effective than dorzolamide at 9 AM, noon (P = 0.03), and 3 and 6 PM (P = 0.04). Timolol was more effective than dorzolamide at 3 PM (P = 0.05), whereas dorzolamide performed better than timolol at midnight and 3 AM (P = 0.05). An ancillary finding of this study was that in the group of healthy subjects, the pattern of IOP curve was different that in patients with eye disease. CONCLUSIONS: Latanoprost seemed to lead to a fairly uniform circadian reduction in IOP, whereas timolol seemed to be less effective during the nighttime hours. Dorzolamide was less effective than latanoprost but led to a significant reduction in nocturnal IOP. The reason for the difference in the pattern of the IOP curve of healthy subjects is currently unknown and deserves further investigation.

Cystoid macular edema following cataract surgery.

Cystoid macular edema (CME) remains a troublesome problem after cataract surgery and other types of ocular surgical procedures. It is recognized as the most frequent cause of decreased vision in patients following cataract surgery. Although the disease was first described more than 40 years ago, its cause is unclear, and all available therapeutic interventions, mainly based on theories regarding the pathogenesis of the condition, are of doubtful effectiveness and are still far from being satisfactory. Most published literature on the incidence and treatment of CME consists of small, retrospective case series and cannot provide reliable answers as to whether a given factor or intervention is associated with the occurrence or outcome of the disease.

[Occupational asthma: medical and social prognosis]. / Asthme professionnel: pronostic médical et social.

The medical and social prognosis of occupational asthma has only been assessed with retrospective studies. The main findings are analyzed here. The wide range of methods used to obtain a positive diagnosis of occupational asthma and more or less complete eviction of the causal agent hinder interpretation of the results. Nevertheless, the findings reported in 15 studies focusing on the medical prognosis have shown that in 70% of the cases, occupational asthma remains symptomatic after eviction. The number of years the asthma existed at diagnosis is higher in subjects who remain symptomatic after eviction. In most patients with occupational asthma, the absence of eviction leads to accentuation of the obstructive syndrome and non-specific bronchial hyperreactivity. When the occupational disease has been recognized, the social-professional consequences unfortunately often include loss of employment and lower revenue.

Drusen and 'choroidal filling defects': a cross-sectional survey.

The present study was designed as a cross-sectional survey to assess the association between soft drusen and 'choroidal filling defects'. Sixty-eight eyes presenting hard drusen and 58 eyes with soft drusen of 126 subjects with an age range of 45-83 years were examined in the present study. Choroidal filling defects were present in 13 out of 68 (19.1%) patients with hard drusen and 29 out of 58 (50%) with soft drusen (chi 2 square = 13.4; p < 0.0001 and an odds ratio = 4.2 with 95% CI 1.9-9.3). Age, ocular and systemic hypertension, and diabetes did not influence the results. The association between soft drusen and choroidal filling defects, found in our study, suggests that these abnormalities are possibly due to changes in the staining or permeability properties of Bruch's membrane rather than to a defect in the choroidal blood supply. Soft drusen and choroidal filling defects may both be caused by an accumulation of hydrophobic material within the Bruch's membrane, which is discrete in the case of drusen and diffuse in the case of choroidal filling defects. Choroidal filling defects and soft drusen may represent useful clinical sign of hydrophobicity of Bruch's membrane.

Diffuse necrotizing retinochoroiditis in a child with AIDS and toxoplasmic encephalitis.

We examined a child with a human immunodeficiency virus (HIV) infection who at 15 months of age developed acute encephalitis, followed 1 week later by a diffuse, uniocular retinochoroiditis. The clinical picture in the right eye was characterized by the occurrence of some intraretinal hemorrhages; punctate, yellow-white, outer retinal lesions temporal to the macula; and a quadrantal, white area of necrotic retina located superotemporally. - The vitreous was remarkably clear, and the left eye was normal. Fluorescein angiography revealed small spots of late hyperfluorescence, vasculitis in the posterior pole, and a persistently hypofluorescent quadrantal superotemporal area. Toxoplasma IgM antibodies that were absent 1 week after birth became detectable in the serum and the cerebrospinal fluid. Serological testing for cytomegalovirus was negative. Neurological signs improved on a specific therapy (pyrimethamine and sulfamethopirazine), but the patient died 2 months later of disseminated cytomegalovirus infection.

Long-term complications of toxic epidermal necrolysis (Lyell's disease). Clinical and histopathologic study.

A case of toxic epidermal necrolysis had been observed in a 4-year-old child. This patient has been reexamined by us 21 years later. At that time a biopsy of conjunctival material and a histopathologic and ultrastructural study were done. The long-term ocular complications of the disease caused severe visual impairment with a remarkable sicca syndrome due to extensive scarring and keratinization, as confirmed also by light- and electron-microscopic features. These findings, concerning a particularly long follow-up, suggest that the ocular sequelae of this disease require continuous ophthalmological supervision many years after the acute stage of the disease.