Alessandro Autelitano

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.

Long-Term Complications of Toxic Epidermal Necrolysis (Lyell’s Disease)

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.

Blindness and Glaucoma: A Multicenter Data Review from 7 Academic Eye Clinics

Purpose To evaluate frequency, conversion rate, and risk factors for blindness in glaucoma patients treated in European Universities. Methods This multicenter retrospective study included 2402 consecutive patients with glaucoma in at least one eye. Medical charts were inspected and patients were divided into those blind and the remainder (‘controls’). Blindness was defined as visual acuity≤0.05 and/or visual field loss to less than 10°. Results Unilateral and bilateral blindness were respectively 11.0% and 1.6% at the beginning, and 15.5% and 3.6% at the end of the observation period (7.5±5.5 years, range:1–25 years); conversion to blindness (at least unilateral) was 1.1%/year. 134 eyes (97 patients) developed blindness by POAG during the study. At the first access to study centre, they had mean deviation (MD) of -17.1±8.3 dB and treated intraocular pressure (IOP) of 17.1±6.6 mmHg. During follow-up the IOP decreased by 14% in these eyes but MD deteriorated by 1.1±3.5 dB/year, which was 5-fold higher than controls (0.2±1.6 dB/year). In a multivariate model, the best predictors for blindness by glaucoma were initial MD (p<0.001), initial IOP (p<0.001), older age at the beginning of follow-up (p<0.001), whereas final IOP was found to be protective (p<0.05). Conclusions In this series of patients, blindness occurred in about 20%. Blindness by glaucoma had 2 characteristics: late diagnosis and/or late referral, and progression of the disease despite in most cases IOP was within the range of normality and target IOP was achieved; it could be predicted by high initial MD, high initial IOP, and old age.

Compass: Clinical Evaluation of a New Instrument for the Diagnosis of Glaucoma

Aims To evaluate Compass, a new instrument for glaucoma screening and diagnosis that combines scanning ophthalmoscopy, automated perimetry, and eye tracking. Materials and Methods A total of 320 human subjects (200 normal, 120 with glaucoma) underwent full ophthalmological evaluation and perimetric evaluation using the Humphrey SITA standard 24° test (HFA), and the Compass test that consisted of a full-threshold program on the central 24° with a photograph of the central 30° of the retina. A subgroup of normal subjects and glaucoma patients underwent a second Compass test during the same day in order to study test-retest variability. After exclusion of 30 patients due to protocol rules, a database was created to compare the Compass to the HFA, and to evaluate retinal image quality and fixation stability. Results The difference in mean sensitivity between Compass and HFA was -1.02 ± 1.55 dB in normal subjects (p<0.001) and -1.01 ± 2.81 dB in glaucoma (p<0.001). Repeatability SD for the average sensitivity was 1.53 for normal subjects and 1.84 for glaucoma. Test time with the Compass was 634±96 s (607±78 for normals, 678±108 for glaucoma). Compass analysis showed the percentage of fixation within the central 1° was 86.6% in normal subjects, and 79.3% in glaucoma patients. Color image quality was sufficient for diagnostic use in >65% of cases; Image-based diagnosis was in accordance with the initial diagnosis in 85% of the subjects. Conclusions Based on preliminary results, Compass showed useful diagnostic characteristics for the study of glaucoma, and combined morphological information with functional data.

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.

Lens opacities in glycogenoses type I and III

OBJECTIVE The glycogen storage diseases (GSD) or glycogenoses comprise several inherited diseases caused by abnormalities of the enzymes that regulate the synthesis or degradation of glycogen. This report presents lens opacities not previously described in patients with type I or III GSD. PARTICIPANTS Eleven patients with type I and III GSD. METHODS We examined a series of 11 consecutive patients (aged 13-40 years) with type I and III GSD by full ophthalmologic examination. RESULTS We found changes of the lens on 7 of 11 patients (aged 23-40 years) with glycogenoses I and III. In 6 patients, the lens showed multiple, bilateral, punctate, and peripheral opacities; only 1 patient showed a posterior subcapsular opacity in both eyes. We did not observe changes in the cornea and the posterior pole correlated to the accumulation of glycogen and lipids. CONCLUSIONS In this series, we found that 60% of patients with type I and III GSD show lens opacities. These opacities are bilateral, peripheral, multiple, and small; they do not give any visual disturbance. Considering that subjects with age ranging from 13 to 23 years had no lens opacities, we postulate that they could progressively develop over time because of exposure to recurrent attacks of hypoglycemia, which lead to a progressive depletion of hexokinase.

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

BackgroundWe 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 presentationA 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.ConclusionsThis 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.

Grisel’s syndrome, a rare cause of anomalous head posture in children: a case report

BackgroundAnomalous head posture (AHP) or torticollis is a relatively common condition in children. Torticollis is not a diagnosis, but it is a sign of underlying disease. Grisel’s syndrome (GS) is a rare condition of uncertain etiology characterized by a nontraumatic atlanto-axial subluxation (AAS), secondary to an infection in the head and neck region. It has not been considered, in ophthalmological papers, as a possible cause of AHP.Case presentationA case of AAS secondary to an otitis media is studied. The children showed neck pain, head tilt, and reduction in neck mobility. The patient had complete remission with antibiotic and anti-inflammatory therapy and muscle relaxants. Signs of GS should always be taken into account during ophthalmological examination (recent history of upper airway infections and/or head and neck surgeries associated to a new onset of sudden, painful AHP with normal ocular exam). In such cases it is necessary to require quick execution of radiological examinations (computer tomography and/or nuclear magnetic resonance), which are essential to confirm the diagnosis.ConclusionGS is a multidisciplinary disease. We underline the importance of an accurate orthoptic and ophthalmological examination. Indeed, early detection and diagnosis are fundamental to achieve proper management, avoid neurological complications and lead to a good prognosis.

Ocular effects of desferrioxamine infusion in uraemic patients on chronic haemodialysis

Five uraemic patients on chronic haemodialysis were treated with single doses (40 mg/kg) of intravenous Desferrioxamine (DFO) in order to evaluate the retinal toxicity. Best corrected visual acuity, ERG, VEP and color vision test (Farnsworth-Munsell 100-hue test) were performed in every patient before the injection of DFO, as well as after 24 hr and 8 days. Transient changes in the 100-hue results were observed in three of the five patients, suggesting that single doses of DFO are toxic to the retina.