[Neurological alterations and intellectual deficits with sudden visual loss in a 7-year-old boy]. / Neurologische Veränderungen und intellektuelle Defizite mit plötzlichem Visusabfall bei einem 7-jährigen Jungen.

Neuronal ceroid-lipofuscinoses (NLC) are a clinically and genetically heterogeneous group of lysosomal storage diseases. The most common NCL is the juvenile type which begins between the ages of 4 and 10 years in most cases with sudden visual loss which correlates with maculopathy and leads to blindness within a few years of presentation. After several years neurological deterioration ensues and in most cases death occurs in the 3rd decade of life. As with other storage disorders NCL is an incurable disease.

[Importance of family examination in juvenile X-linked retinoschisis]. / Die Bedeutung der Familienuntersuchung bei der juvenilen Retinoschisis.

BACKGROUND: Congenital (juvenile) retinoschisis belongs to the group of hereditary vitreoretinopathies. This disorder is inherited in an X-linked recessive pattern and its onset usually occurs in 5- to 10-year-old boys. Presenting clinical signs include decreased visual acuity due to maculopathy. CASE REPORT: The authors present a case of a 17-year-old boy with decreased visual acuity, hypermetropia, and bilateral retinoschisis with maculopathy upon fundus examination. In view of a 50% risk of the disorder occurring in the brothers of the affected male, they underwent full ophthalmological and electrophysiological examinations (until then asymptomatic). In one of them decreased visual acuity, mixed astigmatism, and maculopathy were present, without any changes of the peripheral retina. In the youngest brother decreased visual acuity, hypermetropia, and maculopathy were diagnosed. CONCLUSIONS: Genetic counseling and ophthalmological examination of family members at risk facilitated early recognition of the pathological changes in the siblings. Genetic counseling with pedigree analysis and genetic analysis, if possible, should be offered to all affected patients and family members.

[The diagnosis of psychogenic visual problems in children and young adults with application of visual evoked responses (VER)]. / Diagnostyka psychogennych zaburzen widzenia u dzieci i mlodziezy z wykorzystaniem wzrokowych potencjalów wywolanych.

PURPOSE: To present diagnostical and therapeutical problems connected with children and adolescents suspected of aggravation or simulation of visual problems. MATERIAL: 5 patients between 10 and 13 years old with visual disturbances sent to ophthalmologist with suspicion of neuritis retrobulbaris or tumor cerebri. METHODS: Complexive diagnostical investigations (including visual field tests, color vision tests, visual evoked potentials) with complete ophthalmological examinations of visual organ and psychological evaluation of patients. RESULTS: The normal results of ophthalmological examinations and of all diagnostical investigations including visual evoked potentials. Psychological evaluation of patients showed psychological troubles of the young ones. CONCLUSIONS: The normal results of visual evoked potentials confirm the diagnosis of psychogenic visual disturbances and allow to save children before other medical invasive investigations. Such patients with psychogenic visual disturbances and their families usually need a special kind of psychogenic therapy.

[Laser therapy of diabetic changes in the posterior pole of the eye. Early observations]. / Laseroterapia w zmianach cukrzycowych bieguna tylnego galki ocznej. Obserwacje wczesne.

Presented are the results of treatment of diabetic changes at the posterior pole by argon laser. Among 26 eyes in which the "macular grid" technique was used an improvement or stabilization of vision was attained in 14 eyes, 12 remaining eyes showing deterioration. The anatomical condition improved or it was stabilized in 24 eyes. Focused laser therapy after fluoresceine angiography was used in 15 eyes; improvement or stabilization of the visual acuity was achieved in 12 eyes, deterioration was observed in 3 eyes. The anatomical condition improved or was stabilized in all the 15 eyes. The period of observation amounted 6 months.