Paola Pivetti Pezzi

Childhood leber’s hereditary optic neuropathy (ND1/3460) with visual recovery

The authors report the clinical features and the results of genetic and biochemical studies of a child affected by ND1/3460 Lebers hereditary optic neuropathy, who demonstrates a persistent visual recovery after protracted monitoring. A 10-year-old male suffered from a severe right visual impairment that was incidentally detected. Within 2 months the left eye was also seriously involved, and visual acuity worsened to 20/300 in both eyes, associated with bilateral cecocentral scotomas and dyschromatopsia. During the following months a progressive visual improvement occurred, and 2 years later the visual acuity was 20/20 OU. After 9 years of follow-up the clinical status is unchanged. The mutation at np ND1/3460 was found to be virtually homoplasmic in the probands mtDNA, which was extracted either from platelets or leukocytes, whereas the mother and the sister tested heteroplasmic for the same mutation. The specific activity of complex I in platelets was reduced in the proband and normal in his relatives. An abnormal resistance of NADH:ubiquinone reductase to the inhibitory effect of rotenone was found in platelet mitochondria from the proband and family members and was consistent with the degree of heteroplasmy. This pattern of biochemical abnormalities suggests a cumulative effect of the increasing percentage of mutated mtDNA on complex I function, which involves the interaction between complex I and its substrate ubiquinone in the heteroplasmic condition (asymptomatic state), and the catalytic function of complex I, as mutated mDNA turns toward the homoplasmic condition (symptomatic state).

Intermediate Uveitis in a Pediatric Italian Population

Purpose: To investigate clinical data, outcome, and treatment of intermediate uveitis in children. Methods: Retrospective cohort study, including 116 children affected by intermediate uveitis. Results: Sixty-two percent of patients were males. Ocular involvement was bilateral in 84%. Mean age at uveitis onset was 10.3 ± 3.6 years and 12.2 ± 7 years at first visit. Ninety-seven percent were classified as having idiopathic uveitis. The incidence of ocular complications during follow-up was 0.131/eye-year. Macular edema or a marked vitreous haze at presentation may be risks factors for incident visual loss. The most frequent causes of visual loss were macular edema (64%) and cataract (21%). Conclusions: Most cases are idiopathic (pars planitis); only few children presented associated systemic disease. Macular edema and severe vitritis at presentation are associated with increased risk of visual impairment. Cystoid macular edema is the main cause of visual impairment.

Intermediate uveitis: comparison between childhood-onset and adult-onset disease.

Purpose To compare demographic and clinical data, systemic disease association, visual prognosis, and complications found in childhood and adult onset of intermediate uveitis (IU). Methods Retrospective cohort study of 287 patients with IU: 122 (42.5%) children at onset (<16 years), 165 (57.5%) adults. The data were entered on a computer-based standardized data entry form for statistical analysis. Student t test was used regarding differences in means. To assess significance of differences in proportions, we used the χ 2 test, but when the population in the subgroup was ≤5 patients, we used the Fisher exact test (p<0.05 were deemed to be statistically significant and as reported were not corrected for multiple testing and so should be viewed as nominal). Results A total of 61% of childhood-onset cases occurred in boys (44% in the adult group), while adult onset was more common in women (56% vs 39%) (p = 0.004, odds ratio [OR] 2.06). Regardless of the onset age, IU was frequently bilateral and idiopathic. The most frequent complication was cystoid macular edema (27.5%, p = 0.469, OR 0.85), which was also the most frequent cause of visual loss. Optic disc edema was more prevalent in children (15.5% vs 9.2%; p = 0.027, OR 1.81), ocular hypertension in adults (15.6% vs 7.5%, p = 0.007, OR 0.44). A total of 25 patients had non-idiopathic IU. A total of 14 patients had multiple sclerosis. Conclusions Intermediate uveitis was mostly idiopathic and bilateral in both groups. Visual prognosis was good and it was not age-related. Childhood onset was more frequent in boys, adult onset in women. Endocrinal factors could be involved.

Bilateral trochlear nerve palsy associated with cryptococcal meningitis in human immunodeficiency virus infection

This is the report of a case of bilateral trochlear nerve palsy secondary to cryptococcal meningitis in a 34-year-old woman with acquired immune deficiency syndrome. Based on clinical and neuroradiologic findings, it is concluded that in the present case, a postinflammatory shrinking of the arachnoid has stretched the fourth cranial nerves at their point of emergence from the dorsal surface of the brainstem.

Uveitis heralding previously unknown luetic and HIV infection: syphilitic uveitis in an Italian referral center

PURPOSE This study was conducted to determine the incidence of luetic uveitis in the last seven years at our uveitis center and to describe the characteristics and the role of uveitis in the diagnosis of syphilitic infection with or without unknown HIV infection. METHODS We retrospectively reviewed syphilitic uveitis in patients observed at our center between 2004 and 2010. The diagnosis was based on the serological evidence for syphilis, uveitis, exclusion of other etiologies. All patients had HIV testing. RESULTS We describe 14 new cases of luetic uveitis: 6 co-infected with previously unknown HIV-infection had panuveitis, while the most common presentation in HIV-negative patients was posterior uveitis. CONCLUSIONS Syphilis has been recognized as reemerging disease. The ocular inflammation can be the first symptom of syphilis. This study underlines the importance of a prompt and correct diagnosis of this ocular disease.

Progression of essential iris atrophy studied with confocal microscopy and ultrasound biomicroscopy: a 5-year case report.

Purpose: The purpose of this study was to report the progression of the iridocorneal endothelial syndrome during a 5-year period in a patient with the essential iris atrophy variant using confocal microscopy and ultrabiomicroscopy (UBM). Methods: A 47-year-old woman was referred to us in January 2002 with suspected iridocorneal endothelial syndrome. Examination of both eyes included visual acuity, biomicroscopy, intraocular pressure measurement, gonioscopy, visual field test, and UBM. Afterward, she was examined yearly and confocal microscopy performed. Results: Visual acuity was 20/20 in both eyes. Examination of the right eye revealed endothelial degeneration, peripheral anterior synechiae, and iris atrophy around the pupil that appeared displaced to the temporal side. Biomicroscopy of the left eye was unremarkable. Posterior segment was normal in both eyes. UBM of the right eye showed thickening of the iris adherent to the corneal endothelium. Diagnosis of essential iris atrophy was confirmed. One year later, the right eye showed increasing iridoendothelial adherences confirmed by UBM. Confocal microscopy revealed endothelial cell abnormalities and groups of endothelial “epithelium-like” cells with hyperreflective nuclei. In April 2007, the pupil appeared more temporally dislocated. UBM showed more extended synechiae. Confocal microscopy displayed hyporeflective opacities in the endothelial layer and many grouped keratocytic clusters in the posterior stroma. No alteration of the intraocular pressure and visual field was found during the follow-up. Conclusions: UBM and confocal microscopy permit observation of any corneal and iridocorneal angle changes and evaluation of essential iris atrophy progression.

Contact Lens Care among Teenage Students in Italy: A Cross-Sectional Study

ABSTRACT Aim: To assess the attitude and practice of contact lens (CL) wearers among teenage school students and to evaluate how much the teenagers adhere to the CL care procedures according to the proper care of CL guidelines. Methods: A cross-sectional descriptive study of Italian teenagers from high schools in Rome who wear CL. We inquired about the different aspects of CL care through a questionnaire. Results: We investigated 3,106 students from high schools in Rome (2% of all Roman high school students), 293 of whom wore CL (9%); 151 (52%) of participants responded, 42 (27.8%) male and 109 (72.8%) female. The mean age was 16.4 ± 1.6 years. 79.5% of students were daily users. 45.7% wore CL more than nine hours/day. 87.4% wore soft CL. 33.1% wore disposable CL; 7.9% weekly CL, 55% monthly CL. Thirty-four percent wore disposable lenses twice or more. 14.5% of students did not wash their hands before handling CL and 52.3% wore CL after it had fallen in the sink. 39.7% rubbed and cleaned CL before storing it. 10% used expired lens care solutions. Only 31.1% changed CL cases every three months. 38.4% wore CL in a swimming pool. 61.6% were having problems: redness (13.9%), itching (7.9%), and foreign body sensation (29.1%). Conclusion: Many students don’t properly care for their CL. Education regarding proper care and management of CL among users is advised in view of frequency of symptoms and complications reported.

Bilateral uveitis with hypopyon as a presenting symptom of metastatic peritoneal carcinomatosis.

Purpose To report the association between bilateral uveitis with hypopyon and metastatic peritoneal carcinomatosis. Methods A 76-year-old woman presented bilateral diffuse uveitis with hypopyon. She was in good health. She reported breast cancer history 20 years before with no recurrence of tumor at periodic examinations. Results The patient had visual acuity of count fingers in both eyes, hypopyon, and vitritis with no chorioretinal lesions. After 1 week of steroids, visual acuity and intraocular inflammation improved significantly. Given the late age at uveitis onset, clinical picture of uveitis, and breast cancer history, we suspected associated malignancy. Total body computed tomography revealed peritoneal carcinomatosis, which was removed 1 month later. After 12 months, visual acuity was 0.8 bilaterally and bilateral uveitis resolved completely. Conclusions Excluding a masquerade syndrome and a paraneoplastic syndrome on the basis of clinical features, uveitis represents an immune response to the concurrent tumor. The good response to steroid therapy is in accordance with this hypothesis. This is the first case of uveitis with hypopyon as presenting symptom of a metastatic peritoneal carcinomatosis developing 20 years after the removal of primitive breast cancer.