The gene encoding the synaptosomal-associated protein--25 kDa (SNAP-25) was mapped by analysis of somatic cell hybrids and an intersubspecies backcross to mouse Chromosome 2. To identify potential mutants for SNAP-25, mice bearing mutations mapping to this region of Chromosome 2 were screened for Snap gene abnormalities. Mice heterozygous for the semidominant mutation coloboma (Cm/+) were ident...

Although hyperkinesis is expressed in several neurological disorders, the biological basis of this phenotype is unknown. The mouse mutant coloboma (Cml+) exhibits profound spontaneous locomotor hyperactivity resulting from a deletion mutation. This deletion encompasses several genes including Snap, which encodes SNAP-25, a nerve terminal protein involved in neurotransmitter release. Administrat...

Originally received: July 13, 2016. Final revision: December 23, 2016. Accepted: January 5, 2017. Available online: February 14, 2017. Manuscript no. 2016-1470. 1 Sacrocuore Hospital, Verona, Italy. 2 Department of Computer Science, University of Verona, Verona, Italy. 3 Department of Ophthalmology, Sant’Anna Institute, Brescia, Italy. Financial Disclosure(s): The authors have no proprietary or...

THIS case of a coloboma of the optic nerve entrance is recorded because of the great scarcity of previous histological reports. Only very rarely is a coloboma found to be restricted to the optic nerve entrance (Duke-Elder, 1964); the great majority affect the adjacent choroid as well. Many of the early reports concerned eyes from animals or from anencephalic stillborn infants. These as well as ...

Austromonticolagen. n. is proposed for a group of eight New Zealand alpine broad-nosed weevil species, all of which are here described: A. atriariussp. n. (type locality: Umbrella Mountains, Central Otago), A. caelibatussp. n. (type locality: Ohau Range, Mackenzie), A. furcatussp. n. (type locality: Old Man Range, Central Otago), A. inflatussp. n. (type locality: Hawkdun Range, Central Otago), ...

1. DUKE :-ELDER, S.-The Practice of Refraction. Pp. 152, et seq. London, 1943. -2. PARSONS, SIR JOHN.-Diseases of the Eye. Tenth edition. -.3. LIVINGSTON, P. C-Brit. Orthob. Ji., Vol. I, No. 1, 1939. 4. GRIEVE, J. and ARCHIBALD, D. H.-Tranis. Obhthal. Soc. U,.K., p.285, 1942. 5. MANN, I.-Idem ibide)) quoted. 6. I?E'SCHWENITZ.-Diseases of the Eye; Tenth edition. 7. CHAVASSE.-Modern Trends in Oph...

The aim of this study was to evaluate ocular findings in children with nonsyndromic cleft lip and palate. Fifty-seven consecutive patients with cleft lip and/or palate seeking orthodontic treatment during 2006 were examined prospectively from an ophthalmological standpoint. Mean age of the patients was 9.2 years (range: 15 days to 18 years). Of the 57 children in total, five cases (8.7%) had cl...

BACKGROUND Pseudo-doubling of the optic nerve head is a spectacular clinical entity, in which a lesion resembling an optic disk appears adjacent to the true optic disk. CASE REPORT A case of unilateral pseudo-doubling of the optic disk with bilateral optic nerve pits is presented. CONCLUSIONS The lesion is congenital, and represents a chorioretinal coloboma with optic disk involvement. Pseu...

Both figures show that the centre of the lenses (devoted to far distance) does not reach the nominal distance power of the lens (−3.0 D), being slightly more positive. A higher nominal power of the lenses implies a higher addition, however, this may impact on distance vision. Therefore, this positive over-correction (around 0.5 D) should be taken into consideration by clinicians at the moment o...

PURPOSE To report the optical coherence tomography (OCT) findings in a patient with unilateral macular coloboma. METHODS A 12-year-old male was presented with macular coloboma in the left eye. The optical coherence tomography was performed with fluorescein angiography (FA). RESULTS The OCT revealed the crater-like depression in the macula, demonstrating atrophic neurosensory retina, and an ...