[Acquired temporary night blindness in vitamin A and zinc deficiency in anorexia nervosa nine years after kidney transplantation]. / Erworbene vorübergehende Nachtblindheit bei Vitamin-A- und Zinkmangel bei Anorexia nervosa neun Jahre nach Nierentransplantation.

BACKGROUND: Vitamin and trace element deficiencies may cause visual disturbances. Before starting a substitutional therapy, specific investigations should be performed. HISTORY AND SIGNS: We present a kidney-transplanted patient who suffered for 6 months from night blindness. The electroretinography showed a severe decrease of the rod activity. Except for an irregular pigmentation in the far periphery, the fundus appeared normal. These findings were indicative of a vitamin A and zinc deficiency. The laboratory tests showed decreased vitamin A and zinc serum levels. THERAPY AND OUTCOME: After three months of substitutional therapy the electroretinogram had normalized and the patient was free of symptoms. CONCLUSIONS: Visual disturbances due to vitamin and trace element deficiencies are rare in Europe. If suspected, since the diagnosis and the treatment of nutritional deficiencies are simple, specific investigations and a substitutional therapy should be initiated.

[Visual improvement of an amblyopic eye in an adult patient after visual loss in the non-amblyopic eye]. / Sehschärfenverbesserung eines amblyopen Auges im Erwachsenenalter bei Sehschärfenverlust des nicht amblyopen Auges.

BACKGROUND: The sensitive period for a successful amblyopia treatment is limited to the age of 11 to 13 years. HISTORY AND SIGNS: We present a 60-year-old patient with complete visual loss on his dominant eye after retinal arterial occlusion. The fellow eye had a known severe amblyopia with a corrected visual acuity of 0.1. THERAPY AND OUTCOME: After retinoscopy the patient received a full correction for his amblyopic eye and the vision increased to 0.25. After three months follow-up visual acuity was 0.5 for single optotypes. CONCLUSIONS: Even in adulthood a attempt at full correction of an amblyopic eye after loss of vision in the dominant eye should be performed for optimising the quality of life.

[Does amblyopia therapy make sense in eyes with severe organic defects?]. / Ist eine Amblyopietherapie bei schwerer organischer Augenerkrankung sinnlos?

BACKGROUND: In eyes with severe organic defects the question arises if amblyopia therapy makes sense. PATIENTS AND METHODS: Three children are presented in whom despite severe organic eye diseases amblyopia therapy was tried. The first child had a unilateral large macular scar secondary to retinoblastoma treatment, the second a unilateral severe optic nerve atrophy secondary to an orbital hemangioma, and the third a unilateral large optic nerve coloboma. RESULTS: In the first case a reading visual acuity of 0.9 was achieved by occlusion therapy and in the second a reading visual acuity of 0.5. In the third case occlusion lead to alternation of the divergent strabismus (child too strongly retarded for reliable visual acuity measurements). CONCLUSIONS: During the sensitive phase, amblyopia therapy is also indicated in eyes with severe organic defects since good visual acuities can be achieved.

The development of visual pursuit during the first months of life.

BACKGROUND: There are few previous investigations of smooth pursuit in infants. The aim of our study was to quantify visual pursuit in infants between 1 day and 16 weeks of age. METHODS: Eye movements of 97 healthy infants between 1 day and 16 weeks of age were recorded one to seven times with infrared photo-oculography. For stimulation of visual pursuit a square of 9.4 deg of visual angle with vertical gratings moved horizontally at a constant velocity of 7.5 deg/s. RESULTS: In the first 2 weeks of life, segments of smooth pursuit were measured with a maximum velocity of 7.93 deg/s, with a maximum gain of 1.06 and a maximal duration of 3.16 s. In sequential recordings no significant increases of velocity, gain or duration were found. However, the total time the subjects followed the stimulus with smooth plus saccadic pursuit increased significantly with age (from a median of 39.0% to a median of 61.5% of examination time). CONCLUSION: This study clearly demonstrates that smooth pursuit is already present in the first week of life. We found no significant increase in velocity, gain and duration of smooth pursuit segments in the first 16 weeks of life with our recording technique. However, the total pursuit time, reflecting attention, increased with age. The ocular machinery to drive pursuit appears to be in place at birth and seems not to be influenced by increased attention in the first months of life.

[Eye movement abnormalities as a sign for the diagnosis in Niemann-Pick disease type C]. / Augenbewegungsstörungen als Kennzeichen für die Diagnose des Morbus Niemann-Pick Typ C bei zwei Schwestern.

BACKGROUND: Eye movement abnormalities in familial mental retardation syndrome should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gaucher's disease, abetalipoproteinemia and Wilson's disease. The eye movement abnormalities in our two patients were suggestive of Niemann Pick disease type C, characterized by initial loss of voluntary vertical eye movements and subsequent loss of horizontal eye movements, with preservation of the vestibulo-ocular response. The characteristics of eye movements in storage disorders are different. In Gaucher's disease a progressive horizontal gaze palsy, in abetalipoproteinemia a particular type of internuclear ophthalmoplegia with nystagmus of the adducting eye and in Wilson's disease slowing of saccades may be observed. PATIENTS: We evaluated two mentally retarded sisters with unclear diagnosis at the age of 34 and 27 years. At the age of 24 and 21 a vertical gaze palsy led to the diagnosis of Parinaud syndrome. RESULTS: At the time of our examination both sisters were unable to perform voluntary horizontal or vertical saccades or pursuit eye movements. The vestibulo-ocular reflex was present in all directions. Optokinetic nystagmus and convergence were absent. This clinical picture led us to a suspicion of Niemann-Pick disease type C, confirmed by the presence of sea-blue histiocytes in the bone marrow biopsy. CONCLUSION: These cases demonstrate that the pattern of eye movement disorders in some syndromes associated with mental retardation can give important clues in the determination of the diagnosis.