4. ONH - Congenital/ Hereditary

ONH hypoplasia - a subnormal number of optic nerve _____

axons

ONH hypoplasia

a nerve with hypoplasia will be small or large?

small

ONH hypoplasia will exist with a ______ ______ peripapillary halo with a ring of pigment outside the halo called the ____ ____ ____

yellowish mottled double ring sign

double ring sign

45% of patients with optic nerve hypoplasia have ____ malformations

CNS

what condition is associated with ONH hypoplasia

septo-optic dysplasia

what is the triad of septo-optic dysplasia?

ONH hypoplasia, midline brain abnormalities, pituitary gland dysfunction

onh hypoplasia warrants what two referrals?

neuroimaging and endocrinology

_____ _____ _____ ____ - congenital funnel shaped excavation of the posterior globe which involves the optic disc

morning glory disc anomaly

does morning glory affect more males or females?

females

along with an enlarged orange/pink funnel shaped area of excavation, what is a common finding with morning glory?

overlying central tuft of glial tissue

in patients with morning glory, retinal vessels run an abnormally ______ course over the peripapillary retina and branch at _____ angles

straight acute

is morning glory unilateral or bilateral?

unilateral

in cases of morning glory, SRF can accumulate leading to a...

serous macular detachment

morning glory

patients with morning glory will have an enlarged ____ ____

blind spot

morning glory has a strong association with some _____ _______ abnormalities

congenital brain

_____ _____ - outpouching of retina due to axial elongation from pathological myopia

posterior staphyloma

patients will have what VF defect at the staphyloma location?

scotoma

____ ___ ______ - an enlarged disc within a sharply demarcated white excavation inferiorly due to an incomplete closure of the embryonic fissure during gestation

optic disc coloboma

where does the coloboma occur?

inferiorly

coloboma may involve the adjacent _____ and _____

choroid retina

optic disc coloboma is associated with what three other findings?

serous RD, foveal hypoplasia, pigmented macular atrophy

pts with disc coloboma will have an enlarged ____ ____

blind spot

optic disc coloboma is associated with genetic disorders and mutations arising from _____ defects

midline

what are the CHARGE syndromes?

coloboma of the eye, heart defects, atresia, retardation of growth, ear abnormalities with deafness

coloboma

optic _____ - isolated excavation in the optic nerve head

pit

pits are most commonly on the ______/______ nerve head

inferior temporal

are optic disc pits unilateral or bilateral?

unilateral

30-75% of patients with an optic disc pit will develop ______

maculopathy

optic pits can cause _______-like degenerations of the _____ macula and shallow macular detachments

retinoschisis nasal

what are two treatments for optic pits?

laser photocoagulation and PPV

optic pit

optic pit OCT

patients with optic pits are generally asymptomatic unless _______ occurs

maculopathy

patients with optic disc pits will have an enlarged ____ ____

blind spot

are optic pits associated with any brain malformations?

no

megalopapilla is a disc that is larger than ____mm

2.5

patients with megalopapilla will have normal VA with an enlarged _____ _____

blind spot

is megalopapilla associated with any systemic conditions?

no

is congenital tilted disc syndrome normally unilateral or bilateral?

bilateral

in cases of congenital tilted disc syndrome:

superiotemporal disc is ________

inferionasal disc is displaced ______

elevated posteriorly

_____ ______ - retinal vessels emerge from the optic disc and initially course nasally before turning temporally, reversing to the normal pattern

situs inversus

in cases of congenital tilted disc syndrome, there may be a scleral crescent in what two places?

inferior or inferior nasal

tilted disc

choroidal and scleral crescents are usually _____ to the optic disc

temporal

choroidal and scleral crescents are due to an _____ insertion of optic nerve to globe

oblique

a scleral crescent occurs when _____ and _____ do not border ONH and there is visualization of the sclera

retina choroid

a choroid crescent occurs when the _____ does not border then ONH and there is better visualization of the choroid

retina

mal insertions

myelinated nerve fibers occur when myelination does not stop at the ____ ____ and appears in the retina

lamina cribosa

are myelinated nerve fibers usually unilateral or bilateral?

unilateral

myelinated NFL

if you suspect myelinated NFL, what are two DDx that need to be ruled out?

CWS and artery occlusion

myelinated NFL may create a ____ ____ VF defect

relative scotoma

_____ ______ - a benign glial remnant positioned on or over the ONH

bergmeisters papilla

hyaloid remnant

optic nerve _______ - a benign neoplasm over the ONH

melanocytoma

what is the mean age of diagnosis for ON melanocytoma?

50

are optic nerve melanocytoma more commonly unilateral or bilateral?

unilateral

optic nerve melanocytoma become more _____ over time

pigmented

optic nerve melanocytoma have a ___ risk of malignant transformation

low

if the optic nerve melanocytoma is greater than ____mm thick, there is a greater risk for malignant transformation

1.5

optic nerve melanocytoma

what are two hereditary conditions that cause ONH malformations

leber hereditary optic neuropathy and autosomal dominant optic atrophy

leber hereditary optic neuropathy arises from an inherited _____ mutation in mitochondrial DNA and manifests in young adulthood as a distinctive __________ optic neuropathy

point heredodegenerative

___% of males and ___% of females who carry LHON mutation manifest optic neuropathy

50 10

leber hereditary neuropathy is associated with ____ condition abnormalities

cardiac

typical lebers presentation:

young adult who develops acute painless severe _____ vision loss followed by similar vision loss in the fellow eye __-__ months later

unilateral 2 3

patients with lebers will have a ____ or ______ VF defect

central cecocentral

how with the optic nerve change with lebers?

hyperemia followed by pallor

lebers

autosomal dominant is the most ____ hereditary optic neuropathies

common

onset of autosomal dominant is within the ____ decade of life

first

vision is reduced _______ in both eyes in cases of autosomal dominant

symmetrically

autosomal dominant will cause disc pallor where?

temporal

autosomal dominant will cause what kind of visual field defect?

cecocentral

autosomal dominant