presentation varies depending on which part of the eye is affected and can result in photophobia, retinal detachment, and/or vision loss (Hsu et al., 2014).
Overall, only 25% of patients received a genetic diagnosis, some categories of disease fared better than others, for example, patients with congenital cataracts (88%), retinal dystrophies (42%) but those with structural globe anomalies such as microphthalmia, anophthalmia and ocular coloboma
only had a 8% diagnostic yield; this indicates that exome-based tests are not suitable for all patients, and a more detailed screen of the whole genome would be more beneficial.
Microphthalmia is an eye disorder which affects the size of the eyeball while coloboma
creates a hole in the retina, leading to a 'cat like' appearance.
The classification is necessary not only for treatment purpose but also is important for cosmetic purpose, cicatricial retraction, post-traumatic loss of tissue, congenital colobomas
. The final diagnoses of these lesions are also important to consider reconstruction techniques with grafts and flap in orbital regions.11
Of the 10 genes, three were linked to activity of one molecule-known as actin-among patients with a disease known as ocular coloboma
, which causes part of the eye to be missing at birth.
The exclusion criteria were persistent hyperplastic primer vitreous, uveal inflammation or congenital glaucoma, microphthalmos, and coloboma
. Children who did not complete 12 months follow-up were excluded from the study.
* Selected congenital eye anomalies: microphthalmia or anophthalmia; coloboma
; cataract; intraocular calcifications; chorioretinal anomalies involving the macula (e.g., chorioretinal atrophy and scarring, macular pallor, and gross pigmentary mottling), excluding retinopathy of prematurity; optic nerve atrophy, pallor, and other optic nerve abnormalities.
Criteria for Gorlin syndrome Type Criteria Our patient Major Multiple (>2) basal cell carcinomas or No one diagnosed under 20 years Medulloblastoma, typically Yes desmoplastic/nodular type Odontogenic keratocysts proven by No histology [greater than or equal] 3 palmar or No plantar pits Ectopic calcification (lamellar or Yes early falx) Family history of NBCCS Questionable Minor Skeletal malformations (sella turcica, No vertebral, hands and feet) Ocular anomaly (cataract, coloboma
, No microphthalmia) Rib anomalies No Macrocephaly No Cleft lip or palate No Cardiac or ovarian fibroma No Lymphomesenteric cysts No NBCCS indicates nevoid basal cell carcinoma syndrome.
To the Editor: Semicircular canal (SCC) malformation (dystrophy, coloboma
, or enlargement) is a kind of inner ear anomaly.
Warburg, "Classification of microphthalmos and coloboma
," Journal of Medical Genetics, vol.