Pediatric presentation of enhanced S-cone syndrome associated with two heterozygous NR2E3 mutations.

We report the case of an otherwise healthy 10-year-old girl referred to our institution for gradually decreasing vision and nyctalopia. Based on clinical examination, she was diagnosed with inherited retinal dystrophy, presumably due to enhanced S-cone syndrome (ESCS). Subsequent genetic testing confirmed a rare combination of NR2E3 heterozygous mutations: c.

Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants.

Individuals carrying biallelic loss-of-function mutations in PCDH12 have been reported with three different conditions: the diencephalic-mesencephalic junction dysplasia syndrome 1 (DMJDS1), a disorder characterized by global developmental delay, microcephaly, dystonia, and a midbrain malformation at the diencephalic-mesencephalic junction; cerebral palsy combined with a neurodevelopmental disorder; and cerebellar ataxia with retinopathy. We report an additional patient carrying a homozygous PCDH12 frameshift, whose anamnesis combines the most recurrent DMJDS1 clinical features, that is, global developmental delay, microcephaly, and ataxia, with exudative vitreoretinopathy. This case and previously published DMJDS1 patients presenting with nonspecific visual impairments and ophthalmic disorders suggest that ophthalmic alterations are an integral part of clinical features associated with PCDH12 loss-of-function.

[Microvib--a test battery for studies of physiological tremor].

4 simple tests to investigate physiological tremors in different load conditions on the musculo-skeletal system have been developed with regard to the Austromir space missions. Some new results on normal tremors from the space experiments as well as from ground studies using these tests are discussed. It is proposed to introduce these experimental methods in the area of clinics to evaluate precision of motor control.

[Movement disorders in weightlessness].

The system MONIMIR has been developed to study the coordination of eye, head and arm movements as well as spinal reflexes in microgravity and was used during three spaceflights on board of the station MIR. The following investigations in the course of the experiment MONIMIR were performed: (1) slow head movements in three planes, (2.3) fast pointing movements of eyes, head and arm to acoustic and visual targets, (4) tracking movements of eyes, head and arm to visual targets, (5) head and arm movements based on short term memory and (6) patellar-tendon-reflex.