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Background Mucopolysaccharidosis type VI (MPS VI) is a rare autosomal recessive inherited disease caused by mutations in the arylsulfatase B (ARSB) gene. MPS VI is a multisystemic disease resulting from a deficiency in arylsulfatase B causing an accumulation of glycosaminoglycans in the tissues and organs of the body. In this report, we present the case of a 16-year-old Chinese male who presented with vision loss caused by corneal opacity. MPS VI was confirmed by genetic diagnosis. Case presentation A 16-year-old Chinese male presented with a one-year history of binocular vision loss. The best-corrected visual acuity was 0.25 in the right eye and 0.5 in the left eye. Although slit-lamp examination revealed corneal opacification in both eyes, the ocular examinations of his parents were normal. At the same time, the patient presented with kyphotic deformity, short stature, joint and skeletal malformation, thick lips, long fingers, and coarse facial features. Genetic assessments revealed that ARSB was the causative gene. Compound heterozygous missense mutations were found in the ARSB gene, namely c.1325G > A (p. Thr442Met) (M1) and c.1197G > C (p. Phe399Leu) (M2). Genetic diagnosis confirmed that the patient had MPS VI. Conclusions This paper reports a case of MPS VI confirmed by genetic diagnosis. MPS VI is a multisystem metabolic disease, with corneal opacity as a concomitant ocular symptom. As it is difficult for ophthalmologists to definitively diagnose MPS VI, genetic testing is useful for disease confirmation.

Horseradish peroxidase (HRP) tracings showed a bidirectional connection between the optic tectum (OT) and the ipsilateral nucleus isthmi (NI) pars magnocellularis (Imc) in nocturnal Gekko gekko and diurnal Shinisaurus crocodilurus . We found that, in addition to a direct neuronal pathway, there is an indirect pathway from OT to Imc via the nucleus profundus mesencephali (NPM). The morphology of cells in OT, NPM and NI was studied. Visual units extracellularly recorded from NI were located within Imc based on cobalt sulphide markings. They responded to moving contrast targets, without reacting to tactile and auditory stimulation. HRP and Golgi-Cox studies showed that Imc is a nucleus independent of its parvocellular partner, Ipc.

In the bird, histochemical and biochemical data suggest that the tectal input into nucleus isthmi is of a cholinergic nature. In the present study the response of toad (Bufo bufo gargarizans) isthmic neurones to acetylcholine was investigated using conventional extracellular recording techniques and ionophoresis. The results show isthmic cells to be strongly excited by acetylcholine (ACh), whereas neurones in the neighbouring areas show minimal sensitivity. Atropine sulphate completely blocked the response to acetylcholine and greatly decreased activity induced by visual stimulus. The present data show that acetylcholine mimics one of the physiological transmitters in the nucleus isthmi.