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Discreet chorioretinal spots are a characteristic of the Pattern Dystrophies (PD) that include a small group of disorders with pigmentary changes in the posterior fundus, including the macular region. These disorders are transmitted as either Autosomal Recessive or Dominant trait and can be observed in association with maternal diabetes mellitus and deafness. This report was performed with three aims: 1. to present a clinical case of PD in a young girl and her family; 2. to elucidate the complex panel of diagnostic Hi-Tech techniques; 3. to describe the State of the Art in this field of retinal alterations. The complex diagnostic procedure, when examined at the light of the consolidated bibliography, confirms the importance of the new Hi-Tech instrumentation as an indispensable tool for an early diagnosis of PD.

The most recent data from National Institute Insurance Work Accident (INAIL) confirm the high incidence of ocular injury as accident work. In this work the authors analyse the most common clinical form of occupational ocular trauma with the purpose to evaluate the use of electrophysiological tests in the diagnosis and in the follow up of these accidents. Authors admit the importance of more recent techniques as TC and MR in the diagnosis of these injuries; however, they conclude that electrophysiological tests can be considered as a first choice for the evaluation of the evolution and sequelae of ocular traumatism, for their low cost and easy application.

Besides hereditary macular dystrophies as well as acquired and age-related macular degenerations, systemic disorders should also be considered as a rare cause of maculopathy. In particular, myotonic dystrophy (Curschmann-Steinert syndrome), also characterized by the presence of ptosis and a pathognomic star-shaped cataract, should be taken into account since a reticular dystrophy of the retinal pigment epithelium could be observed, resulting in a visual impairment of various degrees. A clinical case have been retrospectively reviewed and reported in this paper.

In the present work the Authors report one case of Wilson's disease showing peculiar characteristics diagnosed in pediatric-age patients. In this case, a deep electrophysiological visual analysis was carried out six years after diagnosis. The evoked visual potential alterations might be connected to a retina dysfunction. Further studies should be carried out in order to support such hypothesis.

Oscillatory potentials (OP) were recorded from 24 patients with chronic renal insufficiency undergoing hemodialysis. Nobody had visual disturbances. Abnormal OP were found in 11 (45.8%) patients. Moreover the possible correlations among the abnormal OP and some biochemical and clinical parameters were studied. The Authors emphasize the usefulness of the OP to disclose the subclinical retinopathy of the patients with renal insufficiency.

Chloroquine retinopathy is a drug disease that can be prevented. Among some suggested methods, fluorescence electroretinography allows an evaluation of drug retinal deposit. In fact if a fluorescent substance accumulates in the retinal cells, a very short wavelength stimulus can produce a bioelectric response. If soon detected drug absorption is reversible. Only in a long run, the drug can induce irreversible damages. Thus the importance of continuous control of the patients in treatment with chloroquine-drugs is necessary. In this study the results of an investigation of 38 patients treated with synthetic anit-malarial drugs are shown. In some subjects the presence of the drug in the retina, without anatomic lesions, was demonstrated. These deposits disappeared upon cessation of the treatment. Deposits with or without retinal lesions were noticed in 31% of the observed subjects. In these patients the suspension of drug administration reduced accumulation but did not influence retinal lesion shown by fluorangiography. The authors hypothesized that fluorescent substance deposit is made easier by retinal vasculopathy due to connective tissue disorders.

The Authors studied the checkerboard pattern electroretinogram (PERG) behaviour in normal subjects and in patients suffering from traumatic lesion of optic nerve, demyelinating optic neuritis, axonal optic neuritis, retinal vascular disorders and retinitis pigmentosa in order to verify the PERG origin. According to our data the PERG appears to originate from ganglion cells since the signal diminished or disappeared in axonal lesion of optic nerve, as a result of retrograde ganglion cell degeneration. Furthermore, the demyelinating lesions of optic nerve were not able to modify the PERG wave. In patients suffering from retinal receptor disturbances the flash electroretinogram (FERG), which is probably an expression of receptor activity, was greatly impaired, whereas PERGs were either normal or less impaired than FERGs. These data demonstrate the different origin of PERG and FERG.

Pathological changes in the visual system are often present in children with neurological handicaps. Strabismus, refractive errors, amblyopia, optic atrophy are the more frequent findings. The ophthalmological evaluation in these children includes: eliciting of pupillary light reflex; occlusion test; cover-test; observation of symmetry of corneal light reflexes; retinoscopy and ophthalmoscopy. Strabismus is the most frequent alteration. The so-called "caotic" strabismus, with very variable angle of squint and abnormalities of the vertical movements, is peculiar in children with neurological handicaps. Sensorial adaptation to strabismus can lead to: suppression, lack of fusion power, anomalous retinal correspondence, amblyopia; these sequelae are the same as those found in strabismic patients without neurological lesions. The basic aims of therapy are an energetic treatment of sensorial anomalies of strabismus, and the development of the best possible visual acuity in each eye. Surgical treatment has mainly cosmetic purposes. It tends to be delayed in time because the results are rather impredictable, owing to the variations of the angle of squint. It is stressed that surgical and non-surgical treatment of strabismus in children with neurological handicaps has no influence on their psycho-motor performances.

The authors have examined some electrophysiologic data in two couples of siblings with Wolfram's syndrome and in the unaffected sister of one of the couples. The results confirment the involvement of some neurologic structures and show up how the Evocated Potentials can disclose a damage in the a.m. structures even lacking clinical features.