morning glory syndrome (mgs) is a rare congenital optic disc anomaly characterized by a funnel-shaped, excavated optic disc surrounded by chorioretinal pigmentary disturbance. the main ophthalomoscopic feature of the mgs is enlarged optic disc with a funnel shaped scleral defect; elevated peripapillary chorioretinal pigmentation; and pale fluffy tissue of glial hyperplasia overlying the optic d...

Inherited optic neuropathies are a heterogeneous group of disorders characterized by mild to severe visual loss, colour vision deficit, central or paracentral visual field defects and optic disc pallor. Optic atrophies can be classified into isolated or non-syndromic and syndromic forms. While multiple modes of inheritance have been reported, autosomal dominant optic atrophy and mitochondrial i...

Mutations in the optic atrophy 1 gene (OPA1) are associated with autosomal dominant optic atrophy and 20% of patients demonstrate extra-ocular manifestations. In addition to these autosomal dominant cases, only a few syndromic cases have been reported thus far with compound heterozygous OPA1 mutations, suggestive of either recessive or semi‑dominant patterns of inheritance. The majority of thes...

Optic atrophy is not a disease in itself but a clinical sign. It refers to pallor of the optic disc which results from irreversible damage to the retinal ganglion cells and axons. The axons of the retinal ganglion cells make up the optic nerve and continue onto the optic chiasm, optic tract and up to the lateral geniculate body before they synapse. Injury to the retinal ganglion cells and axons...

6 Weiller C, Ferbert A. Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN Type VI, Vizioli). Eur Arch Psychiatry Clin Neurosci 1991;240: 246-9. 7 Vizioli F. Dell'atrofia progressiva nervosa. Bollettino della R Accademia Medico-Chirurgica di Napoli 1889;1: 173-83. 8 Sainton P. L'amyotrophie type Charcot-Marie [MD thesis]. University of Paris: Paris, 1899. 9 Ballet G, Rose F....

PURPOSE The pattern of neuroretinal rim loss and increase in the area of parapapillary atrophy in glaucoma depend on the localization of the central retinal vessel trunk in the lamina cribrosa. The purpose of the present study was to determine whether, in a similar way, the pattern of rim loss and progression of parapapillary atrophy are influenced by the presence and position of cilioretinal a...

PURPOSE To characterize ocular abnormalities associated with iris atrophy in DBA/2J mice and to determine whether mice of this strain develop elevated intraocular pressure (IOP) and glaucoma. METHODS Different approaches, including slit-lamp biomicroscopy, ophthalmoscopic examination, ultrasound backscatter microscopy, and histology were used to examine the eyes of DBA/2J mice ranging from 2 ...

Inherited optic neuropathies are a significant cause of childhood and adult blindness and dominant optic atrophy (DOA) is the most common form of autosomally inherited (non-glaucomatous) optic neuropathy. Patients with DOA present with an insidious onset of bilateral visual loss and they characteristically have temporal optic nerve pallor, centrocaecal visual field scotoma, and a colour vision ...

In order to test the hypothesis that Leber's optic atrophy may be caused by mutation of the mitochondrial (mt) genome, restriction fragment length polymorphism in leukocyte mt DNA was studied in 16 patients with Leber's optic atrophy, 28 of their unaffected matrilineal relatives, and 35 normal control subjects. No differences in restriction fragment patterns were observed between affected and u...