The features of Treacher Collins syndrome along with correlation with the present case Clinical features of TCS For the Our Case Absent (-)/Present(+) Hypoplasia of the zygomatic bones + Hypoplasia of the mandible + Microtia + Conductive hearing loss + External auditory canal atresia/stenosis + Hypoplasia of middle ear ossicles + Cleft palate with or without cleft lip - Preauricular hair displacement - Antimongoloid slant of palpebral fissures + Lower eyelid abnormalities Coloboma
- Sparse or absent eyelashes + Ophtalmologic defects - TCS: Treacher Collins Syndrome
CHARGE is a mnemonic that stands for Coloboma
, Heart defects, choanal Atresia, Retardation of growth and development, Genital hypoplasia, and Ear anomalies (Hsu et al., 2014).
Genetic eye disease spans developmental eye defects such as structural globe anomalies (microphthalmia, anophthalmia, ocular coloboma
), anterior segment dysgenesis (including aniridia and sclerocornea), congenital cataracts, primary congenital glaucoma, congenital nystagmus, optic nerve disorders (ranging from hypoplasia to morning glory disc anomaly), to later childhood and adult-onset disorders including corneal and retinal dystrophies, and hereditary optic neuropathies.
The most common systemic symptoms include delays in developmental milestones, seizure disorders, coloboma
, strabismus, muscle weakness, and hemihypertrophy.
Seventeen patients aged under two years were enrolled, thirteen patients had bilateral cataract, four patients had unilateral cataract with micro ophthalmic eyes with ocular trauma, inflammation, tractional retinal detachment, choroidal coloboma
, aniridia and with persistent fatal vasculature were not included in study.
The ocular lesions observed by the latter team included focal pigment clumping, chorioretinal atrophy, optic nerve changes, bilateral iris coloboma
, and lens subluxation (3).
At less than a week old she was diagnosed with two severe eye conditions known as microphalamia and coloboma
, which have given her eyes that resemble a cat's.
The individuals evidenced hypoplasia of the middle third of the face (bone and muscle), antimongolian rotation of the palpebral cleft, coloboma
of the lower eyelids, absence of eyelashes in the medial region of the eyelids.
Irregular pupil, post-traumatic mydriatic pupil, irregular pupil due to complicated cataract, eccentric pupils and key shaped pupil (iris coloboma
) atrophy iris due to various reasons are absolute contradictions.
Because this case was unilateral and the defective ciliary body was not in the closure site of the embryonic fissure, there was a slight possibility of atypical coloboma
. However, the presence of normal ocular structures other than the ciliary body reduced this possibility.
Other lesions were rare like Lipoma in 4 (1.4%), Pleomorphic adenoma in 4 (1.4%), Benign nevus in 3 (1%), cavernous hemangioma in 3 (1%), AV malformations in 3 (1%) cases, Coloboma
in 3 (1%) Meningioma Grade I in 2 (0.7%).